PDB ID 3B8E CHAIN A
Protein name Sodium/potassium-transporting ATPase subunit alpha-1
Uniprot Accession P05024
The number of similar proteins 10
The number of binding states 4
The number of binding partners 4
Coloring
Unicolor (beige)
The number of binding partners
Group

Binding
state
Binding partners
Downdload
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Molecule viewer
#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
Disease name
41_LEU ARG ClinVar
chr1:116927424
rs1553190285 Pathogenic CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD [MedGen:CN248781,OMIM:618036]
97_LEU ARG ClinVar
chr1:116930037
rs11540945 Pathogenic Aldosterone Producing Adrenal Cortex Adenoma [MedGen:C1706762]
132_VAL MET ClinVar
chr19:42490354
rs1555865401 Pathogenic Juvenile onset psychosis [MedGen:CN236437]
140_SER PHE ClinVar
chr19:42490329
rs542652468 Pathogenic Abnormality of earlobe [Human Phenotype Ontology:HP:0000363,MedGen:C4021808]; Alternating hemiplegia of childhood 2 [MedGen:C3553788,OMIM:614820]; Depressed nasal bridge [Human Phenotype Ontology:HP:0005280,MedGen:C1836542]; Epicanthus [Human Phenotype Ontology:HP:0000286,MedGen:C0678230,OMIM:131500]; Seizures [Human Phenotype Ontology:HP:0001250,MedGen:C0036572]; Ventriculomegaly [Human Phenotype Ontology:HP:0002119,MedGen:C3278923]
140_SER TYR ClinVar
chr19:42490329
rs542652468 Pathogenic Alternating hemiplegia of childhood 2 [MedGen:C3553788,OMIM:614820]
143_GLN LEU ClinVar
chr19:42490320
rs606231427 Pathogenic Alternating hemiplegia of childhood 2 [MedGen:C3553788,OMIM:614820]
157_MET VAL ClinVar
chr19:42490279
rs1135401821 Likely pathogenic Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss [MedGen:C1832466,OMIM:601338,Orphanet:ORPHA1171]
186_VAL MET ClinVar
chr1:160094161
rs869025341 Pathogenic Familial hemiplegic migraine type 2 [MedGen:C1865322,OMIM:602481]
258_THR MET ClinVar
chr1:160097381
- Pathogenic not provided [MedGen:CN517202]
277_ILE THR ClinVar
chr19:42489242
rs80356532 Pathogenic Dystonia 12 [MedGen:C1868681,OMIM:128235,Orphanet:ORPHA71517]
277_ILE ASN ClinVar
chr19:42489242
rs80356532 Pathogenic Alternating hemiplegia of childhood 2 [MedGen:C3553788,OMIM:614820]
280_GLU LYS ClinVar
chr19:42489234
rs80356533 Pathogenic Dystonia 12 [MedGen:C1868681,OMIM:128235,Orphanet:ORPHA71517]
281_ILE THR ClinVar
chr1:160097450
rs121918617 Pathogenic Familial hemiplegic migraine type 2 [MedGen:C1865322,OMIM:602481]
288_ILE MET ClinVar
chr1:160097472
rs1553244746 Pathogenic Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]
296_GLY ARG ClinVar
chr1:160097494
rs121918612 Pathogenic Familial hemiplegic migraine type 2 [MedGen:C1865322,OMIM:602481]
319_GLY SER ClinVar
chr19:42489117
rs869320661 Pathogenic Dystonia 12 [MedGen:C1868681,OMIM:128235,Orphanet:ORPHA71517]
323_ALA THR ClinVar
chr19:42489105
rs879255368 Likely pathogenic not provided [MedGen:CN517202]
323_ALA PRO ClinVar
chr19:42489105
rs879255368 Likely pathogenic Apnea [Human Phenotype Ontology:HP:0002104,MedGen:C0003578]; Delayed speech and language development [Human Phenotype Ontology:HP:0000750,MedGen:C0454644]; Hemiplegia [Human Phenotype Ontology:HP:0002301,MedGen:C0018991]; Oculogyric crisis [Human Phenotype Ontology:HP:0010553,MedGen:C0085637]; Seizures [Human Phenotype Ontology:HP:0001250,MedGen:C0036572]
325_VAL ASP ClinVar
chr19:42489098
rs606231428 Pathogenic Alternating hemiplegia of childhood 2 [MedGen:C3553788,OMIM:614820]
325_VAL GLY ClinVar
chr1:116932301
rs724160010 Pathogenic Aldosterone Producing Adrenal Cortex Adenoma [MedGen:C1706762]
326_PRO SER ClinVar
chr19:42489096
rs864309572 Pathogenic not provided [MedGen:CN517202]
327_GLU GLY ClinVar
chr19:42489092
rs797044897 Likely pathogenic Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]
328_GLY ASP ClinVar
chr19:42489089
rs863224847 Likely pathogenic Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss [MedGen:C1832466,OMIM:601338,Orphanet:ORPHA1171]
329_LEU ARG ClinVar
chr19:42489086
rs1131691307 Likely pathogenic not provided [MedGen:CN517202]
336_CYS PHE ClinVar
chr19:42486254
rs606231430 Pathogenic Alternating hemiplegia of childhood 2 [MedGen:C3553788,OMIM:614820]
336_CYS PHE ClinVar
chr1:160098446
rs1057521630 Likely pathogenic not provided [MedGen:CN517202]
338_THR PRO ClinVar
chr19:42486249
rs606231431 Pathogenic Alternating hemiplegia of childhood 2 [MedGen:C3553788,OMIM:614820]
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 [MedGen:C3553788,OMIM:614820]
340_THR ALA ClinVar
chr1:160098457
rs121918613 Pathogenic Familial hemiplegic migraine type 2 [MedGen:C1865322,OMIM:602481]
361_GLY CYS ClinVar
chr19:42486180
rs606231432 Pathogenic Alternating hemiplegia of childhood 2 [MedGen:C3553788,OMIM:614820]
361_GLY ARG ClinVar
chr19:42486180
rs606231432 Likely pathogenic not provided [MedGen:CN517202]
361_GLY SER ClinVar
chr1:160098520
rs1553244883 Likely pathogenic not provided [MedGen:CN517202]
371_THR MET ClinVar
chr1:160098551
rs121918620 Pathogenic Familial hemiplegic migraine type 2 [MedGen:C1865322,OMIM:602481]
371_THR ARG ClinVar
chr1:160098551
rs121918620 Pathogenic not provided [MedGen:CN517202]
373_THR ASN ClinVar
chr1:160098557
rs28934002 Pathogenic Alternating hemiplegia of childhood 1 [MedGen:C3549447,OMIM:104290]
373_THR ASN ClinVar
chr19:42486143
rs573535377 Pathogenic Dystonia 12 [MedGen:C1868681,OMIM:128235,Orphanet:ORPHA71517]
374_LEU PRO ClinVar
chr19:42486140
rs606231433 Pathogenic Alternating hemiplegia of childhood 2 [MedGen:C3553788,OMIM:614820]
378_ARG HIS ClinVar
chr1:160098572
rs765909830 Likely pathogenic not provided [MedGen:CN517202]
378_ARG HIS ClinVar
chr19:42486128
rs200891944 Likely pathogenic Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]
385_TRP ARG ClinVar
chr19:42486108
rs606231448 Pathogenic Dystonia 12 [MedGen:C1868681,OMIM:128235,Orphanet:ORPHA71517]
416_ARG TER ClinVar
chr1:160098814
rs1165052640 Pathogenic/Likely pathogenic Familial hemiplegic migraine [MedGen:C0338484,Orphanet:ORPHA569,SNOMED CT:95656000]; not provided [MedGen:CN517202]
420_LEU PRO ClinVar
chr19:42485926
rs606231449 Pathogenic Dystonia 12 [MedGen:C1868681,OMIM:128235,Orphanet:ORPHA71517]
544_ARG HIS ClinVar
chr1:160100073
rs121918616 Pathogenic Migraine, familial basilar [MedGen:C1865323]; not provided [MedGen:CN517202]
585_ILE THR ClinVar
chr1:116937846
rs1553192086 Pathogenic CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD [MedGen:CN248781,OMIM:618036]
589_ARG GLN ClinVar
chr1:160100338
rs1553245178 Pathogenic Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]
593_PRO ALA ClinVar
chr1:116937869
rs1553192091 Pathogenic CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD [MedGen:CN248781,OMIM:618036]
593_PRO THR ClinVar
chr1:116937869
rs1553192091 Pathogenic CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD [MedGen:CN248781,OMIM:618036]
602_ALA THR ClinVar
chr1:160100376
rs1414742926 Pathogenic not provided [MedGen:CN517202]
602_ALA GLU ClinVar
chr1:160100377
rs1553245183 Likely pathogenic not provided [MedGen:CN517202]
616_THR MET ClinVar
chr19:42482193
rs80356534 Pathogenic Dystonia 12 [MedGen:C1868681,OMIM:128235,Orphanet:ORPHA71517]; not provided [MedGen:CN517202]
624_VAL MET ClinVar
chr1:160104328
rs1553245659 Pathogenic not provided [MedGen:CN517202]
685_ARG GLN ClinVar
chr1:160105036
rs28933401 Pathogenic Familial hemiplegic migraine type 2 [MedGen:C1865322,OMIM:602481]
687_SER PHE ClinVar
chr19:42480611
rs397515577 Pathogenic Dystonia 12 [MedGen:C1868681,OMIM:128235,Orphanet:ORPHA71517]
709_GLY ARG ClinVar
chr19:42479928
rs782175860 Pathogenic not provided [MedGen:CN517202]
711_GLY ARG ClinVar
chr1:160105251
rs1553245771 Pathogenic/Likely pathogenic Familial hemiplegic migraine [MedGen:C0338484,Orphanet:ORPHA569,SNOMED CT:95656000]; not provided [MedGen:CN517202]
714_ASP ASN ClinVar
chr1:160105260
rs121918614 Pathogenic Familial hemiplegic migraine type 2 [MedGen:C1865322,OMIM:602481]
727_MET THR ClinVar
chr1:160105300
rs28933400 Pathogenic Familial hemiplegic migraine type 2 [MedGen:C1865322,OMIM:602481]
734_VAL ILE ClinVar
chr19:42479853
rs1131691813 Likely pathogenic not provided [MedGen:CN517202]
745_ASP TYR ClinVar
chr19:42479820
rs1135401822 Likely pathogenic Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss [MedGen:C1832466,OMIM:601338,Orphanet:ORPHA1171]
758_GLY ALA ClinVar
chr19:42474694
rs606231434 Pathogenic Alternating hemiplegia of childhood 2 [MedGen:C3553788,OMIM:614820]
758_GLY CYS ClinVar
chr19:42479781
rs557052809 Pathogenic Alternating hemiplegia of childhood 2 [MedGen:C3553788,OMIM:614820]
758_GLY SER ClinVar
chr19:42479781
rs557052809 Pathogenic Alternating hemiplegia of childhood 2 [MedGen:C3553788,OMIM:614820]
759_ARG HIS ClinVar
chr19:42474691
rs606231435 Pathogenic/Likely pathogenic Alternating hemiplegia of childhood 2 [MedGen:C3553788,OMIM:614820]; Dystonia 12 [MedGen:C1868681,OMIM:128235,Orphanet:ORPHA71517]; Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]; not provided [MedGen:CN517202]
759_ARG CYS ClinVar
chr19:42474692
rs1064797245 Pathogenic/Likely pathogenic Alternating hemiplegia of childhood 2 [MedGen:C3553788,OMIM:614820]; Dystonia 12 [MedGen:C1868681,OMIM:128235,Orphanet:ORPHA71517]; Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]; not provided [MedGen:CN517202]
760_LEU PRO ClinVar
chr1:160105635
rs28933398 Pathogenic Familial hemiplegic migraine type 2 [MedGen:C1865322,OMIM:602481]
760_LEU PRO ClinVar
chr19:42474688
rs606231436 Pathogenic Alternating hemiplegia of childhood 2 [MedGen:C3553788,OMIM:614820]
761_ILE SER ClinVar
chr19:42474685
rs80356535 Pathogenic Dystonia 12 [MedGen:C1868681,OMIM:128235,Orphanet:ORPHA71517]
774_THR ASN ClinVar
chr19:42474646
rs557939077 Pathogenic Alternating hemiplegia of childhood 2 [MedGen:C3553788,OMIM:614820]
775_SER ARG ClinVar
chr19:42474642
rs534926223 Pathogenic Alternating hemiplegia of childhood 2 [MedGen:C3553788,OMIM:614820]
775_SER ASN ClinVar
chr19:42474643
rs1064795234 Likely pathogenic not provided [MedGen:CN517202]
776_ASN ILE ClinVar
chr19:42474640
rs606231437 Pathogenic Alternating hemiplegia of childhood 2 [MedGen:C3553788,OMIM:614820]
776_ASN SER ClinVar
chr19:42474640
rs606231437 Pathogenic Alternating hemiplegia of childhood 2 [MedGen:C3553788,OMIM:614820]
778_PRO THR ClinVar
chr19:42474635
rs1555859593 Likely pathogenic Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]
779_GLU ASP ClinVar
chr19:42474630
rs1085307992 Likely pathogenic not provided [MedGen:CN517202]
783_PHE LEU ClinVar
chr19:42474620
rs80356536 Pathogenic Dystonia 12 [MedGen:C1868681,OMIM:128235,Orphanet:ORPHA71517]
804_ASP TYR ClinVar
chr19:42474557
rs80356537 Pathogenic Dystonia 12 [MedGen:C1868681,OMIM:128235,Orphanet:ORPHA71517]
804_ASP ASN ClinVar
chr19:42474557
rs80356537 Pathogenic Alternating hemiplegia of childhood 2 [MedGen:C3553788,OMIM:614820]; Alternating hemiplegia of childhood 2 [MedGen:C3553788,OMIM:614820]; Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss [MedGen:C1832466,OMIM:601338,Orphanet:ORPHA1171]; Dystonia 12 [MedGen:C1868681,OMIM:128235,Orphanet:ORPHA71517]; Dystonia 12 [MedGen:C1868681,OMIM:128235,Orphanet:ORPHA71517]; Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]; not provided [MedGen:CN517202]
804_ASP HIS ClinVar
chr19:42474557
rs80356537 Likely pathogenic Alternating hemiplegia of childhood 2 [MedGen:C3553788,OMIM:614820]
804_ASP ALA ClinVar
chr1:116941690
rs1553192783 Pathogenic CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD [MedGen:CN248781,OMIM:618036]
806_GLY ASP ClinVar
chr19:42474550
rs1555859571 Pathogenic Dystonia 12 [MedGen:C1868681,OMIM:128235,Orphanet:ORPHA71517]
807_THR ILE ClinVar
chr19:42474547
rs606231438 Pathogenic Alternating hemiplegia of childhood 2 [MedGen:C3553788,OMIM:614820]
808_ASP GLU ClinVar
chr19:42474543
rs606231439 Pathogenic Alternating hemiplegia of childhood 2 [MedGen:C3553788,OMIM:614820]
808_ASP HIS ClinVar
chr1:160105778
- Likely pathogenic Familial hemiplegic migraine [MedGen:C0338484,Orphanet:ORPHA569,SNOMED CT:95656000]
809_MET ARG ClinVar
chr19:42474541
rs549006436 Likely pathogenic Alternating hemiplegia of childhood 2 [MedGen:C3553788,OMIM:614820]; Dystonia 12 [MedGen:C1868681,OMIM:128235,Orphanet:ORPHA71517]
813_ILE SER ClinVar
chr19:42474450
rs536681257 Pathogenic Alternating hemiplegia of childhood 2 [MedGen:C3553788,OMIM:614820]
813_ILE PHE ClinVar
chr19:42474451
rs606231440 Pathogenic Alternating hemiplegia of childhood 2 [MedGen:C3553788,OMIM:614820]
814_SER PRO ClinVar
chr19:42474448
rs387907282 Pathogenic Alternating hemiplegia of childhood 2 [MedGen:C3553788,OMIM:614820]; Dystonia 12 [MedGen:C1868681,OMIM:128235,Orphanet:ORPHA71517]
818_GLU LYS ClinVar
chr19:42474436
rs387907281 Pathogenic Alternating hemiplegia of childhood 2 [MedGen:C3553788,OMIM:614820]; Dystonia 12 [MedGen:C1868681,OMIM:128235,Orphanet:ORPHA71517]; Global developmental delay [Human Phenotype Ontology:HP:0001263,MedGen:C0557874]; Hemiplegia [Human Phenotype Ontology:HP:0002301,MedGen:C0018991]; Oculogyric crisis [Human Phenotype Ontology:HP:0010553,MedGen:C0085637]; not provided [MedGen:CN517202]
830_ARG TER ClinVar
chr1:160106097
rs755310507 Pathogenic not provided [MedGen:CN517202]
851_GLY GLU ClinVar
chr1:160106360
rs149144720 Likely pathogenic Familial hemiplegic migraine [MedGen:C0338484,Orphanet:ORPHA569,SNOMED CT:95656000]
851_GLY ARG ClinVar
chr1:160106160
rs1553245857 Pathogenic Familial hemiplegic migraine [MedGen:C0338484,Orphanet:ORPHA569,SNOMED CT:95656000]; not provided [MedGen:CN517202]
870_GLY ASP ClinVar
chr19:42473675
rs606231442 Pathogenic Alternating hemiplegia of childhood 2 [MedGen:C3553788,OMIM:614820]; Dystonia 12 [MedGen:C1868681,OMIM:128235,Orphanet:ORPHA71517]
883_TRP ARG ClinVar
chr1:160106455
rs28933399 Pathogenic Familial hemiplegic migraine type 2 [MedGen:C1865322,OMIM:602481]
896_GLY ARG ClinVar
chr1:160106494
rs1553245908 Likely pathogenic not provided [MedGen:CN517202]
896_GLY ARG ClinVar
chr19:42473598
- Likely pathogenic Dystonia 12 [MedGen:C1868681,OMIM:128235,Orphanet:ORPHA71517]
926_ASP ASN ClinVar
chr19:42472989
rs267606670 Pathogenic Alternating hemiplegia of childhood 2 [MedGen:C3553788,OMIM:614820]; Dystonia 12 [MedGen:C1868681,OMIM:128235,Orphanet:ORPHA71517]
926_ASP TYR ClinVar
chr19:42472989
rs267606670 Pathogenic Alternating hemiplegia of childhood 2 [MedGen:C3553788,OMIM:614820]; Dystonia 12 [MedGen:C1868681,OMIM:128235,Orphanet:ORPHA71517]; not provided [MedGen:CN517202]
927_LEU PRO ClinVar
chr19:42472985
rs1555859157 Pathogenic Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]
930_CYS TRP ClinVar
chr19:42472975
rs606231445 Pathogenic Alternating hemiplegia of childhood 2 [MedGen:C3553788,OMIM:614820]
930_CYS PHE ClinVar
chr19:42472976
rs606231444 Pathogenic Alternating hemiplegia of childhood 2 [MedGen:C3553788,OMIM:614820]
930_CYS TYR ClinVar
chr19:42472976
rs606231444 Pathogenic Alternating hemiplegia of childhood 2 [MedGen:C3553788,OMIM:614820]
933_ARG HIS ClinVar
chr1:160106791
rs1553245943 Likely pathogenic Familial hemiplegic migraine [MedGen:C0338484,Orphanet:ORPHA569,SNOMED CT:95656000]; Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]
939_GLN TER ClinVar
chr19:42472950
rs1555859144 Pathogenic not provided [MedGen:CN517202]
950_GLY ARG ClinVar
chr19:42471896
rs398122887 Pathogenic Alternating hemiplegia of childhood 2 [MedGen:C3553788,OMIM:614820]; Dystonia 12 [MedGen:C1868681,OMIM:128235,Orphanet:ORPHA71517]; Epilepsy [MeSH:D004827,MedGen:C0014544,Orphanet:ORPHA166463]; Hemiplegia [Human Phenotype Ontology:HP:0002301,MedGen:C0018991]; not provided [MedGen:CN517202]
950_GLY ARG ClinVar
chr19:42471896
rs398122887 Pathogenic Alternating hemiplegia of childhood 2 [MedGen:C3553788,OMIM:614820]
950_GLY GLU ClinVar
chr19:42471895
rs886041431 Pathogenic not provided [MedGen:CN517202]
953_GLU TER ClinVar
chr1:160109458
- Pathogenic Polymicrogyria [Human Phenotype Ontology:HP:0002126,MedGen:C0266464,Orphanet:ORPHA35981]
955_THR MET ClinVar
chr1:160109465
rs1226796744 Likely pathogenic Familial hemiplegic migraine [MedGen:C0338484,Orphanet:ORPHA569,SNOMED CT:95656000]
958_ALA ASP ClinVar
chr19:42471871
rs606231446 Pathogenic Alternating hemiplegia of childhood 2 [MedGen:C3553788,OMIM:614820]
975_PRO LEU ClinVar
chr1:160109525
rs121918615 Likely pathogenic Familial hemiplegic migraine [MedGen:C0338484,Orphanet:ORPHA569,SNOMED CT:95656000]; Familial hemiplegic migraine type 2 [MedGen:C1865322,OMIM:602481]
995_ASP TYR ClinVar
chr19:42471440
rs606231447 Pathogenic Alternating hemiplegia of childhood 2 [MedGen:C3553788,OMIM:614820]
998_ARG GLN ClinVar
chr1:160109745
- Likely pathogenic not provided [MedGen:CN517202]