PDB ID 3B8E     CHAIN A
Protein name Sodium/potassium-transporting ATPase subunit alpha-1
Uniprot Accession P05024
The number of similar proteins 26
The number of binding states 6
The number of binding partners 5

Coloring

Unicolor (beige)

The number of binding partners

Group

Binding
state		 Binding partners
3B8E (CHAIN: A)
1 P05027  
2 P05027  
3 Q58K79   P05027  
4 P05027   Q58K79  
5 P05024   Q58K79   P05027  
6 P05024   Q58K79   P05027   P05027  

Downdload

Format:

Molecule viewer


Only interaction residues
#binding
partners
  3
  2
  1
  0

Sequence information

1   AKKERDMDEL   KKEVSMDDHK   LSLDELHRKY   GTDLSRGLTP   ARAAEILARD   50
51   GPNALTPPPT   TPEWVKFCRQ   LFGGFSMLLW   IGAILCFLAY   GIQAATEEEP   100
101   QNDNLYLGVV   LSAVVIITGC   FSYYQEAKSS   KIMESFKNMV   PQQALVIRNG   150
151   EKMSINAEEV   VVGDLVEVKG   GDRIPADLRI   ISANGCKVDN   SSLTGESEPQ   200
201   TRSPDFTNEN   PLETRNIAFF   STNCVEGTAR   GIVVYTGDRT   VMGRIATLAS   250
251   GLEGGQTPIA   AEIEHFIHII   TGVAVFLGVS   FFILSLILEY   TWLEAVIFLI   300
301   GIIVANVPEG   LLATVTVCLT   LTAKRMARKN   CLVKNLEAVE   TLGSTSTICS   350
351   DKTGTLTQNR   MTVAHMWSDN   QIHEADTTEN   QSGVSFDKTS   ATWLALSRIA   400
401   GLCNRAVFQA   NQENLPILKR   AVAGDASESA   LLKCIELCCG   SVKEMRERYT   450
451   KIVEIPFNST   NKYQLSIHKN   PNTAEPRHLL   VMKGAPERIL   DRCSSILIHG   500
501   KEQPLDEELK   DAFQNAYLEL   GGLGERVLGF   CHLFLPDEQF   PEGFQFDTDD   550
551   VNFPLDNLCF   VGLISMIDPP   RAAVPDAVGK   CRSAGIKVIM   VTGDHPITAK   600
601   AIAKGVGIIS   EGNETVEDIA   ARLNIPVSQV   NPRDAKACVV   HGSDLKDMTS   650
651   EQLDDILKYH   TEIVFARTSP   QQKLIIVEGC   QRQGAIVAVT   GDGVNDSPAS   700
701   KKADIGVAMG   IAGSDVSKQA   ADMILLDDNF   ASIVTGVEEG   RLIFDNLKKS   750
751   IAYTLTSNIP   EITPFLIFII   ANIPLPLGTV   TILCIDLGTD   MVPAISLAYE   800
801   QAESDIMKRQ   PRNPKTDKLV   NEQLISMAYG   QIGMIQALGG   FFTYFVILAE   850
851   NGFLPIHLLG   LRVNWDDRWI   NDVEDSYGQQ   WTYEQRKIVE   FTCHTPFFVT   900
901   IVVVQWADLV   ICKTRRNSVF   QQGMKNKILI   FGLFEETALA   AFLSYCPGMG   950
951   VALRMYPLKP   TWWFCAFPYS   LLIFVYDEVR   KLIIRRRPGG   WVEKETYY   1000

Variants

Residue AA Source dbSNP Clinical
Significance
 Allele
Frequency
(> 0.0001)		 Disease name
23_LYS MET 8.3kJPN
chr1:160090766 		rs1377838920
- 0.0001 -
41_LEU ARG ClinVar
chr1:116927424 		rs1553190285
Pathogenic - Charcot-marie-tooth disease, axonal, type 2DD|not provided|Charcot-Marie-Tooth disease type 2A2 [MONDO:MONDO:0054833,MedGen:C4747974,OMIM:618036,Orphanet:521414|MedGen:C3661900|MONDO:MONDO:0012231,MedGen:C4721887,OMIM:609260,Orphanet:99947]
42_ASP GLU 8.3kJPN
chr1:116927428 		-
- 0.0002 -
45_GLY SER 8.3kJPN
chr1:160091012 		-
- 0.0001 -
46_ARG HIS gnomAD
chr1:160091016 		rs144106169
- 0.000123271 -
46_ARG CYS 8.3kJPN
chr1:160091015 		rs747283283
- 0.0002 -
46_ARG HIS 8.3kJPN
chr1:160091016 		rs144106169
- 0.0001 -
52_LEU PRO 8.3kJPN
chr1:160091034 		rs748802547
- 0.0001 -
57_THR ILE 8.3kJPN
chr1:160093010 		-
- 0.0001 -
59_GLN LEU 8.3kJPN
chr1:160093016 		-
- 0.0001 -
60_ARG LEU gnomAD
chr1:160093019 		rs187733403
- 0.000342539 -
60_ARG TRP 8.3kJPN
chr1:160093018 		rs121918619
- 0.0001 -
60_ARG LEU 8.3kJPN
chr1:160093019 		rs187733403
- 0.0101 -
67_ARG TER 8.3kJPN
chr1:160093039 		-
- 0.0001 -
87_ARG GLN 8.3kJPN
chr1:116930007 		rs145341046
- 0.0001 -
92_GLY SER ClinVar
chr19:42492180 		rs1057522886
Likely pathogenic - not provided [MedGen:CN517202]
92_GLY ALA ClinVar
chr19:42492179 		rs1599725621
Pathogenic/Likely pathogenic - Dystonia 12|not provided [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517|MedGen:C3661900]
92_GLY CYS ClinVar
chr19:42492180 		-
Likely pathogenic - Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome [MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338,Orphanet:1171]
95_MET LEU 8.3kJPN
chr1:116930030 		-
- 0.0001 -
97_LEU ARG ClinVar
chr1:116930037 		rs11540945
Pathogenic - Aldosterone-producing adrenal cortex adenoma [MONDO:MONDO:0016505,MedGen:C1706762,Orphanet:231625]
97_LEU PRO ClinVar
chr19:42492164 		-
Pathogenic - Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
109_GLY SER gnomAD
chr1:160093165 		rs116711766
- 0.000815278 -
110_ILE THR 8.3kJPN
chr1:116930076 		-
- 0.0013 -
118_PRO GLN 8.3kJPN
chr1:160093193 		rs1323826655
- 0.0001 -
130_ALA VAL ClinVar
chr19:42490359 		rs2075284959
Likely pathogenic - Developmental and epileptic encephalopathy 99 [MONDO:MONDO:0030473,MedGen:C5562018,OMIM:619606]
132_VAL MET ClinVar
chr19:42490354 		rs1555865401
Pathogenic/Likely pathogenic - Juvenile onset psychosis|Dystonia 12|not provided|Alternating hemiplegia of childhood 2 [MedGen:CN236437|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517|MedGen:CN517202|MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131]
140_SER PHE ClinVar
chr19:42490329 		rs542652468
Pathogenic - Alternating hemiplegia of childhood 2|Ventriculomegaly [MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131|Human Phenotype Ontology:HP:0002119,Human Phenotype Ontology:HP:0002447,Human Phenotype Ontology:HP:0005691,Human Phenotype Ontology:HP:0007071,MedGen:C3278923]; Abnormal earlobe morphology [Human Phenotype Ontology:HP:0000363,MedGen:C4021808]; Depressed nasal bridge [Human Phenotype Ontology:HP:0000425,Human Phenotype Ontology:HP:0000428,Human Phenotype Ontology:HP:0000439,Human Phenotype Ontology:HP:0000459,Human Phenotype Ontology:HP:0004413,Human Phenotype Ontology:HP:0004505,Human Phenotype Ontology:HP:0004506,Human Phenotype Ontology:HP:0004666,Human Phenotype Ontology:HP:0005119,Human Phenotype Ontology:HP:0005280,Human Phenotype Ontology:HP:0005284,MedGen:C1836542]; Seizure [Human Phenotype Ontology:HP:0001250,Human Phenotype Ontology:HP:0001275,Human Phenotype Ontology:HP:0001303,Human Phenotype Ontology:HP:0002125,Human Phenotype Ontology:HP:0002182,Human Phenotype Ontology:HP:0002279,Human Phenotype Ontology:HP:0002306,Human Phenotype Ontology:HP:0002348,Human Phenotype Ontology:HP:0002391,Human Phenotype Ontology:HP:0002417,Human Phenotype Ontology:HP:0002430,Human Phenotype Ontology:HP:0002431,Human Phenotype Ontology:HP:0002432,Human Phenotype Ontology:HP:0002434,Human Phenotype Ontology:HP:0002437,Human Phenotype Ontology:HP:0002466,Human Phenotype Ontology:HP:0002479,Human Phenotype Ontology:HP:0002794,Human Phenotype Ontology:HP:0006997,Human Phenotype Ontology:HP:0010520,MedGen:C0036572]; Epicanthus|Dystonia 12|not provided [Human Phenotype Ontology:HP:0000286,Human Phenotype Ontology:HP:0000624,Human Phenotype Ontology:HP:0007930,MedGen:C0678230,OMIM:131500|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517|MedGen:C3661900]
140_SER TYR ClinVar
chr19:42490329 		rs542652468
Pathogenic - Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
142_TYR CYS 8.3kJPN
chr1:116930811 		rs755220071
- 0.0001 -
143_GLN LYS 8.3kJPN
chr1:160093793 		-
- 0.0001 -
157_MET VAL ClinVar
chr19:42490279 		rs1135401821
Likely pathogenic - Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome [MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338,Orphanet:1171]
170_LYS ASN 8.3kJPN
chr1:160094115 		-
- 0.0001 -
186_VAL MET ClinVar
chr1:160094161 		rs869025341
Pathogenic - Migraine, familial hemiplegic, 2 [MONDO:MONDO:0011232,MedGen:C1865322,OMIM:602481,Orphanet:569]
191_ARG TER ClinVar
chr19:42490060 		rs2075282510
Pathogenic - Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
197_ARG TRP ClinVar
chr1:160094194 		rs1219118149
Likely pathogenic - Familial hemiplegic migraine [MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500]
197_ARG GLN ClinVar
chr1:160094195 		-
Pathogenic - Familial hemiplegic migraine [MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500]
224_PHE LEU 8.3kJPN
chr1:116931578 		-
- 0.0002 -
225_THR ILE 8.3kJPN
chr19:42489517 		-
- 0.0001 -
227_ASP ASN 8.3kJPN
chr19:42489512 		rs1271282195
- 0.0003 -
248_ARG HIS 8.3kJPN
chr1:116932070 		rs1258171077
- 0.0002 -
258_THR MET ClinVar
chr1:160097381 		rs777400961
Pathogenic/Likely pathogenic - not provided|Familial hemiplegic migraine|Migraine, familial hemiplegic, 2 [MedGen:C3661900|MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500|MONDO:MONDO:0011232,MedGen:C1865322,OMIM:602481,Orphanet:569]
274_ARG GLN gnomAD
chr1:160097429 		rs373178892
- 0.000115342 -
274_ARG GLN 8.3kJPN
chr1:160097429 		rs373178892
- 0.0001 -
277_ILE THR ClinVar
chr19:42489242 		rs80356532
Pathogenic - Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
277_ILE ASN ClinVar
chr19:42489242 		rs80356532
Pathogenic - Alternating hemiplegia of childhood 2 [MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131]
277_ILE PHE ClinVar
chr19:42489243 		-
Likely pathogenic - ATP1A3-Related Disorders [-]
280_GLU LYS ClinVar
chr19:42489234 		rs80356533
Pathogenic - Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
281_ILE THR ClinVar
chr1:160097450 		rs121918617
Likely pathogenic - Migraine, familial hemiplegic, 2|Familial hemiplegic migraine [MONDO:MONDO:0011232,MedGen:C1865322,OMIM:602481,Orphanet:569|MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500]
286_GLN HIS 8.3kJPN
chr1:160097466 		-
- 0.0001 -
288_ILE MET ClinVar
chr1:160097472 		rs1553244746
Pathogenic - Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]
288_ILE LEU 8.3kJPN
chr19:42489210 		-
- 0.0009 -
289_THR PRO 8.3kJPN
chr19:42489207 		-
- 0.0005 -
295_LEU PRO ClinVar
chr1:116932211 		rs1557785499
Pathogenic - Hypomagnesemia, seizures, and intellectual disability 2 [MONDO:MONDO:0020788,MedGen:C5193023,OMIM:618314]
295_LEU ARG ClinVar
chr19:42489188 		rs2145977887
Pathogenic - Developmental and epileptic encephalopathy 99 [MONDO:MONDO:0030473,MedGen:C5562018,OMIM:619606]
295_LEU ARG ClinVar
chr1:116932211 		rs1557785499
Pathogenic - Hypomagnesemia, seizures, and intellectual disability 2 [MONDO:MONDO:0020788,MedGen:C5193023,OMIM:618314]
296_GLY ARG ClinVar
chr1:160097494 		rs121918612
Pathogenic - Migraine, familial hemiplegic, 2|Familial hemiplegic migraine [MONDO:MONDO:0011232,MedGen:C1865322,OMIM:602481,Orphanet:569|MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500]
296_GLY ARG ClinVar
chr1:116932213 		rs1557785503
Pathogenic - Hypomagnesemia, seizures, and intellectual disability 2 [MONDO:MONDO:0020788,MedGen:C5193023,OMIM:618314]
296_GLY GLU ClinVar
chr1:160097495 		-
Likely pathogenic - Familial hemiplegic migraine [MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500]
318_ILE PHE ClinVar
chr19:42489120 		-
Likely pathogenic - Developmental and epileptic encephalopathy 99 [MONDO:MONDO:0030473,MedGen:C5562018,OMIM:619606]
319_GLY SER ClinVar
chr19:42489117 		rs869320661
Pathogenic - Dystonia 12|ATP1A3-Related Disorders [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517|]
319_GLY VAL ClinVar
chr19:42489116 		rs2145977758
Pathogenic - Developmental and epileptic encephalopathy 99 [MONDO:MONDO:0030473,MedGen:C5562018,OMIM:619606]
321_ILE MET ClinVar
chr19:42489109 		rs529241207
Pathogenic - Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]; Alternating hemiplegia of childhood 2|Dystonia 12 [MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
323_ALA THR ClinVar
chr19:42489105 		rs879255368
Likely pathogenic - not provided [MedGen:CN517202]
323_ALA PRO ClinVar
chr19:42489105 		rs879255368
Pathogenic/Likely pathogenic - Oculogyric crisis [Human Phenotype Ontology:HP:0010553,MONDO:MONDO:0000483,MedGen:C0085637]; Apnea [Human Phenotype Ontology:HP:0002104,Human Phenotype Ontology:HP:0005936,Human Phenotype Ontology:HP:0005958,MedGen:C0003578]; Delayed speech and language development [Human Phenotype Ontology:HP:0000750,Human Phenotype Ontology:HP:0002116,Human Phenotype Ontology:HP:0002117,Human Phenotype Ontology:HP:0002336,Human Phenotype Ontology:HP:0002399,Human Phenotype Ontology:HP:0002498,Human Phenotype Ontology:HP:0006936,Human Phenotype Ontology:HP:0007004,Human Phenotype Ontology:HP:0007127,Human Phenotype Ontology:HP:0007170,Human Phenotype Ontology:HP:0007172,MedGen:C0454644]; Seizure [Human Phenotype Ontology:HP:0001250,Human Phenotype Ontology:HP:0001275,Human Phenotype Ontology:HP:0001303,Human Phenotype Ontology:HP:0002125,Human Phenotype Ontology:HP:0002182,Human Phenotype Ontology:HP:0002279,Human Phenotype Ontology:HP:0002306,Human Phenotype Ontology:HP:0002348,Human Phenotype Ontology:HP:0002391,Human Phenotype Ontology:HP:0002417,Human Phenotype Ontology:HP:0002430,Human Phenotype Ontology:HP:0002431,Human Phenotype Ontology:HP:0002432,Human Phenotype Ontology:HP:0002434,Human Phenotype Ontology:HP:0002437,Human Phenotype Ontology:HP:0002466,Human Phenotype Ontology:HP:0002479,Human Phenotype Ontology:HP:0002794,Human Phenotype Ontology:HP:0006997,Human Phenotype Ontology:HP:0010520,MedGen:C0036572]; Hemiplegia|Dystonia 12 [Human Phenotype Ontology:HP:0002301,MONDO:MONDO:0001170,MedGen:C0018991|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
325_VAL GLY ClinVar
chr1:116932301 		rs724160010
Pathogenic - Aldosterone-producing adrenal cortex adenoma [MONDO:MONDO:0016505,MedGen:C1706762,Orphanet:231625]
325_VAL MET ClinVar
chr1:160097581 		rs1236883845
Pathogenic - Familial hemiplegic migraine [MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500]
326_PRO SER ClinVar
chr19:42489096 		rs864309572
Pathogenic/Likely pathogenic - not provided|Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome|Dystonia 12 [MedGen:C3661900|MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338,Orphanet:1171|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
326_PRO ARG ClinVar
chr1:116932304 		rs1401759980
Likely pathogenic - Marfanoid habitus and intellectual disability [MedGen:CN263130]
326_PRO ALA ClinVar
chr1:160097584 		-
Pathogenic - Familial hemiplegic migraine [MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500]
327_GLU GLY ClinVar
chr19:42489092 		rs797044897
Pathogenic/Likely pathogenic - Inborn genetic diseases|not provided [MeSH:D030342,MedGen:C0950123|MedGen:CN517202]
327_GLU GLY ClinVar
chr1:116932307 		rs2101045655
Likely pathogenic - Charcot-marie-tooth disease, axonal, type 2DD [MONDO:MONDO:0054833,MedGen:C4747974,OMIM:618036,Orphanet:521414]
328_GLY ASP ClinVar
chr19:42489089 		rs863224847
Pathogenic/Likely pathogenic - Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome|not provided [MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338,Orphanet:1171|MedGen:CN517202]
329_LEU ARG ClinVar
chr19:42489086 		rs1131691307
Pathogenic/Likely pathogenic - not provided|Dystonia 12 [MedGen:C3661900|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
329_LEU PRO ClinVar
chr19:42489086 		-
Likely pathogenic - Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
334_THR PRO ClinVar
chr19:42489072 		-
Likely pathogenic - Alternating hemiplegia of childhood 2 [MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131]
336_CYS PHE ClinVar
chr1:160098446 		rs1057521630
Likely pathogenic - not provided|Developmental and epileptic encephalopathy 98 [MedGen:CN517202|MONDO:MONDO:0030472,MedGen:C5562017,OMIM:619605]
336_CYS TYR ClinVar
chr19:42486254 		-
Likely pathogenic - Alternating hemiplegia of childhood [MONDO:MONDO:0016241,MedGen:C0338488,OMIM:PS104290,Orphanet:2131]
336_CYS TYR ClinVar
chr1:160098446 		-
Likely pathogenic - Developmental and epileptic encephalopathy 98|Migraine, familial hemiplegic, 2 [MONDO:MONDO:0030472,MedGen:C5562017,OMIM:619605|MONDO:MONDO:0011232,MedGen:C1865322,OMIM:602481,Orphanet:569]
338_THR MET ClinVar
chr19:42486248 		rs1131691940
Likely pathogenic - not provided [MedGen:CN517202]
338_THR LYS ClinVar
chr19:42486248 		rs1131691940
Likely pathogenic - Alternating hemiplegia of childhood 2 [MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131]
340_THR ALA ClinVar
chr1:160098457 		rs121918613
Pathogenic - Migraine, familial hemiplegic, 2 [MONDO:MONDO:0011232,MedGen:C1865322,OMIM:602481,Orphanet:569]
341_ALA PRO ClinVar
chr19:42486240 		rs2145972624
Likely pathogenic - not provided [MedGen:C3661900]
346_ARG GLN 8.3kJPN
chr1:160098476 		rs754655141
- 0.0001 -
349_CYS ARG ClinVar
chr19:42486216 		rs1599719534
Likely pathogenic - Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
357_VAL MET ClinVar
chr1:160098508 		-
Likely pathogenic - not provided [MedGen:C3661900]
359_THR MET ClinVar
chr1:160098515 		rs1553244881
Pathogenic/Likely pathogenic - not provided|Inborn genetic diseases|Migraine, familial hemiplegic, 2 [MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0011232,MedGen:C1865322,OMIM:602481,Orphanet:569]
361_GLY CYS ClinVar
chr19:42486180 		rs606231432
Pathogenic - Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
361_GLY ARG ClinVar
chr19:42486180 		rs606231432
Likely pathogenic - not provided [MedGen:C3661900]
361_GLY SER ClinVar
chr1:160098520 		rs1553244883
Likely pathogenic - not provided|Developmental and epileptic encephalopathy 98 [MedGen:C3661900|MONDO:MONDO:0030472,MedGen:C5562017,OMIM:619605]
361_GLY VAL ClinVar
chr1:160098521 		rs1057518514
Pathogenic - Familial hemiplegic migraine [MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500]
361_GLY ASP ClinVar
chr19:42486179 		rs1555863693
Pathogenic - Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
361_GLY SER ClinVar
chr19:42486180 		rs606231432
Pathogenic - Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
362_SER TYR ClinVar
chr19:42486176 		rs2075237416
Likely pathogenic - ATP1A3-associated neurological disorder [MONDO:MONDO:0700002,MedGen:CN305087]
363_THR MET ClinVar
chr1:160098527 		rs746383817
Likely pathogenic - Familial hemiplegic migraine [MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500]
363_THR ARG ClinVar
chr19:42486173 		-
Pathogenic/Likely pathogenic - Alternating hemiplegia of childhood 2|Dystonia 12 [MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
364_SER PRO ClinVar
chr19:42486171 		rs2145972497
Pathogenic - Developmental and epileptic encephalopathy 99 [MONDO:MONDO:0030473,MedGen:C5562018,OMIM:619606]
366_ILE THR ClinVar
chr19:42486164 		rs2145972483
Pathogenic - Alternating hemiplegia of childhood 2|Dystonia 12 [MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
367_CYS ARG ClinVar
chr19:42486162 		rs2075237136
Likely pathogenic - Alternating hemiplegia of childhood 2 [MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131]
371_THR MET ClinVar
chr1:160098551 		rs121918620
Pathogenic/Likely pathogenic - Migraine, familial hemiplegic, 2|Familial hemiplegic migraine|Inborn genetic diseases|not provided [MONDO:MONDO:0011232,MedGen:C1865322,OMIM:602481,Orphanet:569|MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500|MeSH:D030342,MedGen:C0950123|MedGen:C3661900]
372_GLY VAL ClinVar
chr1:160098554 		-
Pathogenic - Familial hemiplegic migraine [MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500]
373_THR ASN ClinVar
chr1:160098557 		rs28934002
Pathogenic/Likely pathogenic - Alternating hemiplegia of childhood 1|Familial hemiplegic migraine [MONDO:MONDO:0007087,MedGen:C3549447,OMIM:104290,Orphanet:2131|MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500]
373_THR ALA ClinVar
chr19:42486144 		rs2145972442
Likely pathogenic - Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
373_THR ILE ClinVar
chr19:42486143 		-
Likely pathogenic - Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
378_ARG HIS ClinVar
chr1:160098572 		rs765909830
Pathogenic/Likely pathogenic - not provided|Alternating hemiplegia of childhood 1|Familial hemiplegic migraine [MedGen:C3661900|MONDO:MONDO:0007087,MedGen:C3549447,OMIM:104290,Orphanet:2131|MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500]
381_VAL ILE 8.3kJPN
chr1:160098580 		rs137878081
- 0.0001 -
387_ASP ASN 8.3kJPN
chr1:160098598 		-
- 0.0001 -
388_ASN SER 8.3kJPN
chr1:116932995 		rs138556439
- 0.0001 -
392_GLU LYS ClinVar
chr19:42486087 		rs1555863623
Pathogenic - Alternating hemiplegia of childhood 2 [MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131]
399_GLN HIS 8.3kJPN
chr1:160098636 		-
- 0.0001 -
407_ARG TER ClinVar
chr1:160098787 		-
Pathogenic/Likely pathogenic - Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies|not provided|Familial hemiplegic migraine [MONDO:MONDO:0859204,MedGen:C5562015,OMIM:619602|MedGen:C3661900|MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500]
416_ARG TER ClinVar
chr1:160098814 		rs1165052640
Pathogenic/Likely pathogenic - not provided|Familial hemiplegic migraine [MedGen:C3661900|MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500]
416_ARG GLN 8.3kJPN
chr1:160098815 		rs139499540
- 0.0001 -
419_GLY SER 8.3kJPN
chr1:116933457 		-
- 0.0001 -
431_GLU LYS 8.3kJPN
chr1:160098859 		rs866493442
- 0.0001 -
434_PRO HIS 8.3kJPN
chr1:116933503 		-
- 0.0004 -
464_ARG TER ClinVar
chr1:160099134 		-
Pathogenic - Familial hemiplegic migraine [MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500]
466_ARG CYS gnomAD
chr19:42485704 		rs150785666
- 0.00046522 -
467_ASN SER gnomAD
chr1:160099144 		rs529607288
- 0.000179217 -
480_LYS TER ClinVar
chr1:160099182 		rs2101989829
Pathogenic - Familial hemiplegic migraine [MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500]
480_LYS TER ClinVar
chr19:42485662 		rs2145971509
Pathogenic - Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
487_GLU LYS gnomAD
chr1:160099904 		rs142348542
- 0.000441925 -
487_GLU LYS 8.3kJPN
chr1:160099904 		rs142348542
- 0.0001 -
488_ARG TER ClinVar
chr1:160099907 		rs534696343
Likely pathogenic - Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies [MONDO:MONDO:0859204,MedGen:C5562015,OMIM:619602]
488_ARG TER 8.3kJPN
chr1:160099907 		rs534696343
- 0.0001 -
497_VAL MET gnomAD
chr1:160099931 		rs150465651
- 0.000202961 -
510_ARG CYS 8.3kJPN
chr1:116936234 		rs574791429
- 0.0001 -
510_ARG HIS 8.3kJPN
chr1:116936235 		rs11540949
- 0.0001 -
520_GLU TER ClinVar
chr1:160100000 		-
Pathogenic - Familial hemiplegic migraine [MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500]
525_LYS GLN 8.3kJPN
chr1:160100015 		rs377024509
- 0.0009 -
526_GLU GLY 8.3kJPN
chr1:160100019 		rs201296747
- 0.0002 -
544_ARG HIS ClinVar
chr1:160100073 		rs121918616
Pathogenic/Likely pathogenic - Migraine, familial basilar|not provided|Familial hemiplegic migraine|ATP1A2-RELATED DISORDERS|Migraine, familial hemiplegic, 2 [MedGen:C1865323|MedGen:C3661900|MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500||MONDO:MONDO:0011232,MedGen:C1865322,OMIM:602481,Orphanet:569]
544_ARG CYS ClinVar
chr1:160100072 		rs1651731153
Pathogenic - not provided|Familial hemiplegic migraine [MedGen:C3661900|MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500]
551_LEU VAL 8.3kJPN
chr1:116937743 		-
- 0.0001 -
552_ASN TYR gnomAD
chr1:160100226 		rs141467566
- 0.000178944 -
553_LEU PRO 8.3kJPN
chr1:160100230 		-
- 0.0001 -
557_GLN ARG 8.3kJPN
chr1:116937762 		rs754714789
- 0.0001 -
560_ARG TRP 8.3kJPN
chr1:160100250 		rs762330744
- 0.0002 -
566_THR MET 8.3kJPN
chr1:160100269 		rs758815329
- - -
573_ILE VAL gnomAD
chr1:116937809 		rs77217304
- 0.0218743 -
577_CYS TER ClinVar
chr1:160100303 		rs1570990484
Pathogenic - Familial hemiplegic migraine [MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500]
585_ILE THR ClinVar
chr1:116937846 		rs1553192086
Pathogenic - Charcot-marie-tooth disease, axonal, type 2DD|not provided|Charcot-Marie-Tooth disease type 2A2 [MONDO:MONDO:0054833,MedGen:C4747974,OMIM:618036,Orphanet:521414|MedGen:C3661900|MONDO:MONDO:0012231,MedGen:C4721887,OMIM:609260,Orphanet:99947]
589_ARG GLN ClinVar
chr1:160100338 		rs1553245178
Pathogenic - Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]
589_ARG LEU ClinVar
chr1:160100338 		rs1553245178
Pathogenic - Familial hemiplegic migraine [MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500]
593_PRO ALA ClinVar
chr1:116937869 		rs1553192091
Pathogenic - Charcot-marie-tooth disease, axonal, type 2DD|Charcot-Marie-Tooth disease type 2A2 [MONDO:MONDO:0054833,MedGen:C4747974,OMIM:618036,Orphanet:521414|MONDO:MONDO:0012231,MedGen:C4721887,OMIM:609260,Orphanet:99947]
593_PRO THR ClinVar
chr1:116937869 		rs1553192091
Likely pathogenic - Charcot-marie-tooth disease, axonal, type 2DD|not provided|Charcot-Marie-Tooth disease type 2A2 [MONDO:MONDO:0054833,MedGen:C4747974,OMIM:618036,Orphanet:521414|MedGen:C3661900|MONDO:MONDO:0012231,MedGen:C4721887,OMIM:609260,Orphanet:99947]
593_PRO ARG ClinVar
chr1:116937870 		rs2101055022
Likely pathogenic - Charcot-marie-tooth disease, axonal, type 2DD [MONDO:MONDO:0054833,MedGen:C4747974,OMIM:618036,Orphanet:521414]
600_ARG GLN ClinVar
chr1:160100371 		rs747238010
Likely pathogenic - Familial hemiplegic migraine [MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500]
600_ARG HIS ClinVar
chr19:42482319 		rs1599715341
Likely pathogenic - Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
600_ARG TER ClinVar
chr1:160100370 		rs1469902667
Pathogenic - not provided|Familial hemiplegic migraine [MedGen:C3661900|MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500]
602_ALA THR ClinVar
chr1:160100376 		rs1414742926
Pathogenic - not provided|Familial hemiplegic migraine|ATP1A2-related condition [MedGen:C3661900|MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500|]
602_ALA GLU ClinVar
chr1:160100377 		rs1553245183
Likely pathogenic - not provided [MedGen:CN517202]
604_ILE VAL 8.3kJPN
chr1:160100382 		rs762121770
- 0.0002 -
611_GLY ARG ClinVar
chr1:160104289 		rs770053423
Pathogenic/Likely pathogenic - Alternating hemiplegia of childhood 1|Familial hemiplegic migraine [MONDO:MONDO:0007087,MedGen:C3549447,OMIM:104290,Orphanet:2131|MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500]
616_THR MET ClinVar
chr19:42482193 		-
Pathogenic - Dystonia 12|not provided|Alternating hemiplegia of childhood 2 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517|MedGen:C3661900|MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131]
624_VAL MET ClinVar
chr1:160104328 		rs1553245659
Pathogenic - not provided|Familial hemiplegic migraine [MedGen:C3661900|MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500]
626_ILE LEU ClinVar
chr1:160104334 		rs1382260409
Likely pathogenic - Migraine, familial hemiplegic, 2 [MONDO:MONDO:0011232,MedGen:C1865322,OMIM:602481,Orphanet:569]
640_ARG HIS gnomAD
chr1:116939323 		rs201085928
- 0.000104217 -
645_MET LEU 8.3kJPN
chr1:160104391 		rs1259879948
- 0.0006 -
647_GLN TER ClinVar
chr19:42482101 		rs1555861946
Pathogenic - Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
656_CYS TER ClinVar
chr19:42480703 		rs782105093
Pathogenic - Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
662_ASP VAL 8.3kJPN
chr1:160104967 		-
- 0.0001 -
680_GLU LYS ClinVar
chr19:42480633 		-
Likely pathogenic - not provided [MedGen:CN517202]
685_ARG GLN ClinVar
chr1:160105036 		rs28933401
Likely pathogenic - Migraine, familial hemiplegic, 2|not provided [MONDO:MONDO:0011232,MedGen:C1865322,OMIM:602481,Orphanet:569|MedGen:C3661900]
687_SER PHE ClinVar
chr19:42480611 		rs397515577
Likely pathogenic - Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
687_SER TYR ClinVar
chr19:42480611 		-
Likely pathogenic - Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
687_SER PHE ClinVar
chr1:160105042 		-
Likely pathogenic - not provided [MedGen:C3661900]
709_GLY ARG ClinVar
chr19:42479928 		-
Pathogenic - Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
711_GLY ARG ClinVar
chr1:160105251 		rs1553245771
Pathogenic - not provided|Familial hemiplegic migraine [MedGen:C3661900|MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500]
713_ASN LYS ClinVar
chr1:160105259 		rs140707454
Pathogenic - not provided [MedGen:C3661900]
714_ASP ASN ClinVar
chr1:160105260 		rs121918614
Likely pathogenic - Migraine, familial hemiplegic, 2|Familial hemiplegic migraine [MONDO:MONDO:0011232,MedGen:C1865322,OMIM:602481,Orphanet:569|MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500]
718_LEU PRO ClinVar
chr19:42479900 		rs2075159021
Pathogenic/Likely pathogenic - Dystonia 12|Developmental and epileptic encephalopathy 99 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517|MONDO:MONDO:0030473,MedGen:C5562018,OMIM:619606]
721_ALA ASP ClinVar
chr19:42479891 		rs2075158829
Pathogenic - Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
726_ALA PRO ClinVar
chr19:42479877 		-
Pathogenic - Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
727_MET THR ClinVar
chr1:160105300 		rs28933400
Likely pathogenic - Migraine, familial hemiplegic, 2 [MONDO:MONDO:0011232,MedGen:C1865322,OMIM:602481,Orphanet:569]
733_ASP GLY 8.3kJPN
chr1:160105318 		rs1418054654
- 0.0001 -
734_VAL ILE 8.3kJPN
chr1:160105320 		rs1558008569
- 0.0001 -
735_SER TYR ClinVar
chr19:42479849 		rs1599712523
Likely pathogenic - Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
745_ASP TYR ClinVar
chr19:42479820 		rs1135401822
Likely pathogenic - Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome [MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338,Orphanet:1171]
745_ASP VAL ClinVar
chr19:42479819 		rs2145959393
Pathogenic - Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
754_GLY GLU ClinVar
chr19:42479792 		rs1599712456
Likely pathogenic - Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
754_GLY ALA gnomAD
chr1:160105381 		rs147183887
- 0.000298382 -
758_GLY ALA ClinVar
chr19:42474694 		rs606231434
Pathogenic - Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
758_GLY CYS ClinVar
chr19:42479781 		rs557052809
Pathogenic - Dystonia 12|not provided [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517|MedGen:C3661900]
758_GLY SER ClinVar
chr19:42479781 		rs557052809
Pathogenic - Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
759_ARG HIS ClinVar
chr19:42474691 		rs606231435
Pathogenic/Likely pathogenic - Dystonia 12|Alternating hemiplegia of childhood 2|Inborn genetic diseases|not provided|Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome|not specified|ATP1A3-associated neurological disorder [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517|MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131|MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338,Orphanet:1171|MedGen:CN169374|MONDO:MONDO:0700002,MedGen:CN305087]
759_ARG CYS ClinVar
chr19:42474692 		rs1064797245
Pathogenic/Likely pathogenic - not provided|Inborn genetic diseases|Alternating hemiplegia of childhood 2|Dystonia 12|Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome [MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517|MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338,Orphanet:1171]; Alternating hemiplegia of childhood 2 [MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131]; Dystonia 12|Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517|MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338,Orphanet:1171]
759_ARG SER ClinVar
chr19:42474692 		-
Likely pathogenic - Alternating hemiplegia of childhood 2 [MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131]
759_ARG LEU ClinVar
chr1:160105632 		-
Likely pathogenic - Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies [MONDO:MONDO:0859204,MedGen:C5562015,OMIM:619602]
760_LEU PRO ClinVar
chr1:160105635 		rs28933398
Pathogenic - Migraine, familial hemiplegic, 2|Familial hemiplegic migraine [MONDO:MONDO:0011232,MedGen:C1865322,OMIM:602481,Orphanet:569|MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500]
760_LEU PRO ClinVar
chr19:42474688 		rs606231436
Likely pathogenic - not provided [MedGen:C3661900]
761_ILE SER ClinVar
chr19:42474685 		rs80356535
Likely pathogenic - Dystonia 12|not provided [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517|MedGen:C3661900]
771_TYR CYS ClinVar
chr19:42474655 		rs1599706613
Likely pathogenic - Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
774_THR ILE ClinVar
chr19:42474646 		rs557939077
Pathogenic - Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome [MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338,Orphanet:1171]
775_SER ASN ClinVar
chr19:42474643 		rs1064795234
Pathogenic/Likely pathogenic - not provided|Dystonia 12 [MedGen:C3661900|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
775_SER ASN ClinVar
chr1:160105680 		rs2101995480
Likely pathogenic - Alternating hemiplegia of childhood 1 [MONDO:MONDO:0007087,MedGen:C3549447,OMIM:104290,Orphanet:2131]
776_ASN SER ClinVar
chr19:42474640 		rs606231437
Pathogenic - Alternating hemiplegia of childhood 2|not provided|Dystonia 12 [MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131|MedGen:C3661900|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
778_PRO THR ClinVar
chr19:42474635 		rs1555859593
Likely pathogenic - Inborn genetic diseases|not provided [MeSH:D030342,MedGen:C0950123|MedGen:C3661900]
779_GLU ASP ClinVar
chr19:42474630 		rs1085307992
Likely pathogenic - not provided [MedGen:CN517202]
779_GLU LYS ClinVar
chr19:42474632 		rs2145948130
Likely pathogenic - not provided [MedGen:C3661900]
780_ILE ASN ClinVar
chr19:42474628 		rs1599706522
Likely pathogenic - Alternating hemiplegia of childhood [MONDO:MONDO:0016241,MedGen:C0338488,OMIM:PS104290,Orphanet:2131]
781_THR PRO ClinVar
chr19:42474626 		rs1599706511
Likely pathogenic - Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
782_PRO LEU ClinVar
chr1:160105701 		rs1209724722
Pathogenic - Familial hemiplegic migraine [MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500]
783_PHE LEU ClinVar
chr19:42474620 		rs80356536
Pathogenic - Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
790_ASN SER 8.3kJPN
chr1:160105725 		rs1207066234
- 0.0001 -
792_PRO ARG ClinVar
chr1:160105731 		rs1651922528
Likely pathogenic - not provided [MedGen:C3661900]
804_ASP TYR ClinVar
chr19:42474557 		rs80356537
Pathogenic - Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
804_ASP ASN ClinVar
chr19:42474557 		-
Pathogenic - Alternating hemiplegia of childhood 2|Alternating hemiplegia of childhood 2 [MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131|MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131]; Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome [MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338,Orphanet:1171]; Dystonia 12|Dystonia 12|Inborn genetic diseases|not provided|Tetraparesis [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517|MeSH:D030342,MedGen:C0950123|MedGen:C3661900|Human Phenotype Ontology:HP:0002273,Human Phenotype Ontology:HP:0002338,MedGen:C0270790]; Dystonic disorder [Human Phenotype Ontology:HP:0001332,Human Phenotype Ontology:HP:0002328,MONDO:MONDO:0003441,MedGen:C0013421]; Oculogyric crisis|ATP1A3-Related Disorders|Developmental and epileptic encephalopathy 99 [Human Phenotype Ontology:HP:0010553,MONDO:MONDO:0000483,MedGen:C0085637||MONDO:MONDO:0030473,MedGen:C5562018,OMIM:619606]
804_ASP HIS ClinVar
chr19:42474557 		rs80356537
Likely pathogenic - Alternating hemiplegia of childhood 2 [MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131]
804_ASP GLU ClinVar
chr1:160105768 		rs1570994712
Likely pathogenic - Familial hemiplegic migraine [MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500]
806_GLY ASP ClinVar
chr19:42474550 		rs1555859571
Pathogenic - Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
806_GLY ARG ClinVar
chr19:42474551 		rs2075090666
Likely pathogenic - Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
806_GLY SER ClinVar
chr19:42474551 		rs2075090666
Pathogenic - Alternating hemiplegia of childhood 2 [MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131]
808_ASP GLU ClinVar
chr19:42474543 		rs606231439
Pathogenic - Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
808_ASP HIS ClinVar
chr1:160105778 		rs1558008759
Likely pathogenic - Familial hemiplegic migraine [MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500]
808_ASP GLU ClinVar
chr19:42474543 		rs606231439
Likely pathogenic - Developmental and epileptic encephalopathy 99 [MONDO:MONDO:0030473,MedGen:C5562018,OMIM:619606]
809_MET ARG ClinVar
chr19:42474541 		rs549006436
Likely pathogenic - Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
812_ALA PRO ClinVar
chr19:42474454 		-
Pathogenic - Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]
814_SER PRO ClinVar
chr19:42474448 		rs387907282
Pathogenic - Alternating hemiplegia of childhood 2|Dystonia 12 [MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
818_GLU LYS ClinVar
chr19:42474436 		rs387907281
Pathogenic - Alternating hemiplegia of childhood 2|Dystonia 12|Alternating hemiplegia of childhood 2 [MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517|MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131]; Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome [MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338,Orphanet:1171]; Dystonia 12|Hemiplegia [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517|Human Phenotype Ontology:HP:0002301,MONDO:MONDO:0001170,MedGen:C0018991]; Global developmental delay [Human Phenotype Ontology:HP:0000754,Human Phenotype Ontology:HP:0001255,Human Phenotype Ontology:HP:0001263,Human Phenotype Ontology:HP:0001277,Human Phenotype Ontology:HP:0001292,Human Phenotype Ontology:HP:0002433,Human Phenotype Ontology:HP:0002473,Human Phenotype Ontology:HP:0002532,Human Phenotype Ontology:HP:0006793,Human Phenotype Ontology:HP:0006867,Human Phenotype Ontology:HP:0006885,Human Phenotype Ontology:HP:0006935,Human Phenotype Ontology:HP:0007005,Human Phenotype Ontology:HP:0007094,Human Phenotype Ontology:HP:0007106,Human Phenotype Ontology:HP:0007174,Human Phenotype Ontology:HP:0007224,Human Phenotype Ontology:HP:0007228,Human Phenotype Ontology:HP:0007342,Human Phenotype Ontology:HP:0025356,MedGen:C0557874]; Oculogyric crisis|not provided|not specified|Inborn genetic diseases|Developmental and epileptic encephalopathy 99|Dyskinesia [Human Phenotype Ontology:HP:0010553,MONDO:MONDO:0000483,MedGen:C0085637|MedGen:C3661900|MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0030473,MedGen:C5562018,OMIM:619606|Human Phenotype Ontology:HP:0100660,MedGen:C0013384]; Seizure [Human Phenotype Ontology:HP:0001250,Human Phenotype Ontology:HP:0001275,Human Phenotype Ontology:HP:0001303,Human Phenotype Ontology:HP:0002125,Human Phenotype Ontology:HP:0002182,Human Phenotype Ontology:HP:0002279,Human Phenotype Ontology:HP:0002306,Human Phenotype Ontology:HP:0002348,Human Phenotype Ontology:HP:0002391,Human Phenotype Ontology:HP:0002417,Human Phenotype Ontology:HP:0002430,Human Phenotype Ontology:HP:0002431,Human Phenotype Ontology:HP:0002432,Human Phenotype Ontology:HP:0002434,Human Phenotype Ontology:HP:0002437,Human Phenotype Ontology:HP:0002466,Human Phenotype Ontology:HP:0002479,Human Phenotype Ontology:HP:0002794,Human Phenotype Ontology:HP:0006997,Human Phenotype Ontology:HP:0010520,MedGen:C0036572]; Neurodevelopmental delay [Human Phenotype Ontology:HP:0012758,MedGen:C4022738]; Dystonic disorder [Human Phenotype Ontology:HP:0001332,Human Phenotype Ontology:HP:0002328,MONDO:MONDO:0003441,MedGen:C0013421]
821_GLU LYS ClinVar
chr19:42474427 		rs587777771
Pathogenic - Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome|Alternating hemiplegia of childhood 2|Dystonia 12|not provided|Inborn genetic diseases [MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338,Orphanet:1171|MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517|MedGen:C3661900|MeSH:D030342,MedGen:C0950123]
823_ASP ASN 8.3kJPN
chr19:42474421 		rs782378337
- 0.0001 -
825_MET VAL ClinVar
chr1:160106082 		rs2101995847
Likely pathogenic - Familial hemiplegic migraine [MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500]
830_ARG GLN ClinVar
chr1:160106098 		rs2101995864
Pathogenic - Familial hemiplegic migraine|Migraine, familial hemiplegic, 2 [MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500|MONDO:MONDO:0011232,MedGen:C1865322,OMIM:602481,Orphanet:569]
830_ARG TRP ClinVar
chr19:42474400 		-
Pathogenic - Developmental and epileptic encephalopathy 99 [MONDO:MONDO:0030473,MedGen:C5562018,OMIM:619606]
830_ARG LEU ClinVar
chr1:160106098 		-
Likely pathogenic - Familial hemiplegic migraine [MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500]
833_ARG GLN 8.3kJPN
chr19:42474390 		rs368371895
- 0.0001 -
837_LEU PRO ClinVar
chr1:116942124 		rs1653241392
Likely pathogenic - Charcot-marie-tooth disease, axonal, type 2DD|Intellectual disability [MONDO:MONDO:0054833,MedGen:C4747974,OMIM:618036,Orphanet:521414|Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontology:HP:0001267,Human Phenotype Ontology:HP:0001286,Human Phenotype Ontology:HP:0002122,Human Phenotype Ontology:HP:0002192,Human Phenotype Ontology:HP:0002316,Human Phenotype Ontology:HP:0002382,Human Phenotype Ontology:HP:0002386,Human Phenotype Ontology:HP:0002402,Human Phenotype Ontology:HP:0002458,Human Phenotype Ontology:HP:0002482,Human Phenotype Ontology:HP:0002499,Human Phenotype Ontology:HP:0002543,Human Phenotype Ontology:HP:0003767,Human Phenotype Ontology:HP:0006833,Human Phenotype Ontology:HP:0007154,Human Phenotype Ontology:HP:0007176,Human Phenotype Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756]
846_ALA ASP ClinVar
chr19:42474351 		-
Likely pathogenic - Alternating hemiplegia of childhood 2 [MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131]
847_TYR CYS ClinVar
chr1:160106149 		-
Likely pathogenic - See cases [-]
851_GLY GLU ClinVar
chr1:160106360 		rs149144720
Likely pathogenic - Familial hemiplegic migraine [MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500]
851_GLY ARG ClinVar
chr1:160106160 		rs1553245857
Pathogenic - not provided|Familial hemiplegic migraine|Migraine, familial hemiplegic, 2 [MedGen:C3661900|MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500|MONDO:MONDO:0011232,MedGen:C1865322,OMIM:602481,Orphanet:569]; Alternating hemiplegia of childhood 1|Migraine, familial hemiplegic, 2 [MONDO:MONDO:0007087,MedGen:C3549447,OMIM:104290,Orphanet:2131|MONDO:MONDO:0011232,MedGen:C1865322,OMIM:602481,Orphanet:569]; Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies [MONDO:MONDO:0859204,MedGen:C5562015,OMIM:619602]; Developmental and epileptic encephalopathy 98 [MONDO:MONDO:0030472,MedGen:C5562017,OMIM:619605]; Alternating hemiplegia of childhood 1 [MONDO:MONDO:0007087,MedGen:C3549447,OMIM:104290,Orphanet:2131]
851_GLY ALA ClinVar
chr19:42473732 		rs1599705281
Likely pathogenic - Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome [MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338,Orphanet:1171]
852_MET ARG ClinVar
chr1:116943486 		rs781629728
Pathogenic - Hypomagnesemia, seizures, and intellectual disability 2 [MONDO:MONDO:0020788,MedGen:C5193023,OMIM:618314]
854_GLN ARG ClinVar
chr19:42473723 		rs2145946065
Likely pathogenic - Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome|not provided [MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338,Orphanet:1171|MedGen:C3661900]
854_GLN PRO ClinVar
chr19:42473723 		-
Pathogenic - Developmental and epileptic encephalopathy 99 [MONDO:MONDO:0030473,MedGen:C5562018,OMIM:619606]
870_GLY ASP ClinVar
chr19:42473675 		rs606231442
Pathogenic - not provided|Dystonia 12 [MedGen:C3661900|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
870_GLY SER ClinVar
chr1:160106416 		rs1651959213
Likely pathogenic - not provided [MedGen:C3661900]
874_GLY SER 8.3kJPN
chr19:42473664 		rs554237072
- 0.0001 -
883_TRP ARG ClinVar
chr1:160106455 		rs28933399
Pathogenic - Migraine, familial hemiplegic, 2|Familial hemiplegic migraine [MONDO:MONDO:0011232,MedGen:C1865322,OMIM:602481,Orphanet:569|MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500]
888_VAL ILE gnomAD
chr19:42473622 		rs149600313
- 0.000139173 -
896_GLY ARG ClinVar
chr1:160106494 		rs1553245908
Likely pathogenic - not provided [MedGen:CN517202]
896_GLY ARG ClinVar
chr19:42473598 		rs1568853466
Likely pathogenic - Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
896_GLY ARG ClinVar
chr19:42473598 		rs1568853466
Pathogenic - not provided|Dystonia 12 [MedGen:C3661900|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
899_TRP ARG ClinVar
chr19:42473589 		rs2145945797
Likely pathogenic - Developmental and epileptic encephalopathy 99 [MONDO:MONDO:0030473,MedGen:C5562018,OMIM:619606]
899_TRP TER ClinVar
chr1:160106504 		-
Pathogenic - Familial hemiplegic migraine [MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500]
904_ARG GLN ClinVar
chr1:160106704 		rs2101996488
Pathogenic/Likely pathogenic - not provided|Developmental and epileptic encephalopathy 98|Migraine, familial hemiplegic, 2 [MedGen:C3661900|MONDO:MONDO:0030472,MedGen:C5562017,OMIM:619605|MONDO:MONDO:0011232,MedGen:C1865322,OMIM:602481,Orphanet:569]
910_THR MET 8.3kJPN
chr1:160106722 		rs1205366030
- 0.0001 -
911_CYS SER 8.3kJPN
chr19:42473033 		-
- 0.0001 -
921_VAL MET 8.3kJPN
chr1:160106754 		-
- 0.0001 -
922_VAL LEU ClinVar
chr1:160106757 		rs1651973884
Likely pathogenic - not provided [MedGen:CN517202]
923_GLN ARG ClinVar
chr19:42472997 		rs2075071667
Likely pathogenic - Alternating hemiplegia of childhood 2 [MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131]
923_GLN PRO ClinVar
chr19:42472997 		-
Pathogenic - Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
924_TRP TER ClinVar
chr19:42472993 		rs1060500993
Pathogenic - Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
924_TRP ARG ClinVar
chr1:116943824 		rs1570980551
Pathogenic - Hypomagnesemia, seizures, and intellectual disability 2 [MONDO:MONDO:0020788,MedGen:C5193023,OMIM:618314]
926_ASP ASN ClinVar
chr19:42472989 		rs267606670
Pathogenic - Dystonia 12|Alternating hemiplegia of childhood 2|Alternating hemiplegia of childhood 2 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517|MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131|MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131]; Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome [MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338,Orphanet:1171]; Dystonia 12|not provided|ATP1A3-associated neurological disorder [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517|MedGen:C3661900|MONDO:MONDO:0700002,MedGen:CN305087]
926_ASP TYR ClinVar
chr19:42472989 		rs267606670
Pathogenic - Alternating hemiplegia of childhood 2|not provided|Dystonia 12 [MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131|MedGen:C3661900|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
926_ASP ALA ClinVar
chr19:42472988 		rs2075071528
Pathogenic - Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
926_ASP ASN ClinVar
chr1:116943830 		rs2101066493
Pathogenic - not provided [MedGen:C3661900]
926_ASP HIS ClinVar
chr19:42472989 		rs267606670
Pathogenic - Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
927_LEU PRO ClinVar
chr19:42472985 		rs1555859157
Pathogenic - Inborn genetic diseases|Dystonia 12 [MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
933_ARG HIS ClinVar
chr1:160106791 		rs1553245943
Likely pathogenic - Inborn genetic diseases|Familial hemiplegic migraine [MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500]
939_GLN TER ClinVar
chr19:42472950 		rs1555859144
Pathogenic - not provided [MedGen:CN517202]
939_GLN TER ClinVar
chr1:160106808 		-
Likely pathogenic - not provided [MedGen:C3661900]
950_GLY ARG ClinVar
chr19:42471896 		rs398122887
Pathogenic - Alternating hemiplegia of childhood 2|Hemiplegia [MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131|Human Phenotype Ontology:HP:0002301,MONDO:MONDO:0001170,MedGen:C0018991]; Epilepsy|not provided|Dystonia 12|Alternating hemiplegia of childhood 2 [MONDO:MONDO:0005027,MeSH:D004827,MedGen:C0014544|MedGen:C3661900|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517|MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131]; Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome [MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338,Orphanet:1171]; Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
950_GLY ARG ClinVar
chr19:42471896 		rs398122887
Pathogenic - Alternating hemiplegia of childhood 2|Dystonia 12 [MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
950_GLY GLU ClinVar
chr19:42471895 		rs886041431
Pathogenic - not provided|Alternating hemiplegia of childhood 2 [MedGen:CN517202|MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131]
950_GLY TRP ClinVar
chr19:42471896 		rs398122887
Pathogenic/Likely pathogenic - Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome [MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338,Orphanet:1171]; Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]; Alternating hemiplegia of childhood 2|Dystonia 12 [MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
953_GLU TER ClinVar
chr1:160109458 		rs1558010146
Pathogenic - Polymicrogyria|Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies|not provided [Human Phenotype Ontology:HP:0002126,MONDO:MONDO:0000087,MedGen:C0266464,Orphanet:35981|MONDO:MONDO:0859204,MedGen:C5562015,OMIM:619602|MedGen:CN517202]
954_GLU LYS ClinVar
chr19:42471884 		rs2145942372
Likely pathogenic - Dystonia 12 [MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517]
958_ALA SER 8.3kJPN
chr1:160109473 		-
- 0.0001 -
975_PRO LEU ClinVar
chr1:160109525 		rs121918615
Pathogenic - Migraine, familial hemiplegic, 2|Familial hemiplegic migraine|not provided|Migraine, familial hemiplegic, 2 [MONDO:MONDO:0011232,MedGen:C1865322,OMIM:602481,Orphanet:569|MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500|MedGen:C3661900|MONDO:MONDO:0011232,MedGen:C1865322,OMIM:602481,Orphanet:569]; Alternating hemiplegia of childhood 1 [MONDO:MONDO:0007087,MedGen:C3549447,OMIM:104290,Orphanet:2131]
998_ARG GLN ClinVar
chr1:160109745 		rs757310141
Pathogenic/Likely pathogenic - not provided|Migraine, familial hemiplegic, 2|Familial hemiplegic migraine [MedGen:C3661900|MONDO:MONDO:0011232,MedGen:C1865322,OMIM:602481,Orphanet:569|MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500]
1003_ARG GLN 8.3kJPN
chr1:160109760 		rs754878991
- 0.0001 -
1004_ARG GLN 8.3kJPN
chr1:160109763 		rs781023681
- 0.0009 -
1005_TYR TER ClinVar
chr1:160109767 		rs1570998206
Pathogenic/Likely pathogenic - Epilepsy|Familial hemiplegic migraine [MONDO:MONDO:0005027,MeSH:D004827,MedGen:C0014544|MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500]
1007_GLY ALA 8.3kJPN
chr19:42471403 		rs782204932
- 0.0001 -
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Reference

PiSite: a database of protein interaction sites using multiple binding states in the PDB, Miho Higurashi, Takashi Ishida and Kengo Kinoshita, Nucleic Acids Research 2009 37(Database issue):D360-D364

COPYRIGHTc2008-2019 Miho Higurashi, Takashi Ishida and Kengo Kinoshita. All rights reserved.