PDB ID 2FY4     CHAIN A
Protein name Choline O-acetyltransferase
Uniprot Accession P28329
The number of similar proteins 5
The number of binding states 1
The number of binding partners 0

Coloring

Unicolor (beige)

The number of binding partners

Group

Binding
state
Binding partners
2FY4 (CHAIN: A)
1 Monomeric state

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Format:

Molecule viewer


Only interaction residues
#binding
partners
  0

Sequence information

1   AAAKTPSSEE   SGLPKLPVPP   LQQTLATYLQ   CMRHLVSEEQ   FRKSQAIVQQ   50
51   FGAPGGLGET   LQQKLLERQE   KTANWVSEYW   LNDMYLNNRL   ALPVNSSPAV   100
101   IFARQHFPGT   DDQLRFAASL   ISGVLSYKAL   LDSHSIPTDC   AKGQLSGQPL   150
151   CMKQYYGLFS   SYRLPGHTQD   TLVAQNSSIM   PEPEHVIVAC   CNQFFVLDVV   200
201   INFRRLSEGD   LFTQLRKIVK   MASNAAARLP   PIGLLTSDGR   SEWAEARTVL   250
251   VKDSTNRDSL   DMIERCICLV   CLDAPGGVEL   SDTHRALQLL   HGGGYSKNGA   300
301   NRWYDKSLQF   VVGRDGTCGV   VCEHSPFDGI   VLVQCTEHLL   KHMTQPELVR   350
351   SPMVPLPAPR   RLRWKCSPEI   QGHLASSAEK   LQRIVKNLDF   IVYKFDNYGK   400
401   TFIKKQKCSP   DAFIQVALQL   AFYRLHRRLV   PTYESASIRR   FQEGRVDNIR   450
451   SATPEALAFV   RAVTDHKAAV   PASEKLLLLK   DAIRAQTAYT   VMAITGMAID   500
501   NHLLALRELA   RAMCAALPEM   FMDETYLMSN   RFVLSTSQVP   TTTEMFCCYG   550
551   PVVPNGYGAC   YNPQPETILF   CISSFHSCAA   TSSSKFAKAV   EESLIDMRDL   600
601   CSLLPPTESK   PL         650

Variants

Residue AA Source dbSNP Clinical
Significance
Allele
Frequency
(> 0.0001)
Disease name
22_GLN TER ClinVar
chr10:50827801
rs794727516
Pathogenic - not provided|Familial infantile myasthenia [MedGen:C3661900|MONDO:MONDO:0009689,MedGen:C0393929,OMIM:254210,Orphanet:590]
27_THR ARG 8.3kJPN
chr10:50827817
rs766040346
- 0.0002 -
33_ARG TER ClinVar
chr10:50827834
-
Pathogenic/Likely pathogenic - Congenital myasthenic syndrome|Familial infantile myasthenia|not specified [MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462,Orphanet:590|MONDO:MONDO:0009689,MedGen:C0393929,OMIM:254210,Orphanet:590|MedGen:CN169374]
35_LEU PHE 8.3kJPN
chr10:50827842
-
- 0.0003 -
40_GLN TER ClinVar
chr10:50827855
rs1838635016
Pathogenic - Familial infantile myasthenia [MONDO:MONDO:0009689,MedGen:C0393929,OMIM:254210,Orphanet:590]
53_ALA VAL 8.3kJPN
chr10:50827895
-
- 0.0001 -
61_LEU VAL 8.3kJPN
chr10:50827918
-
- 0.0001 -
80_TRP TER ClinVar
chr10:50828554
-
Likely pathogenic - Familial infantile myasthenia [MONDO:MONDO:0009689,MedGen:C0393929,OMIM:254210,Orphanet:590]
89_ARG GLY ClinVar
chr10:50828580
rs760936252
Likely pathogenic - not provided|Familial infantile myasthenia [MedGen:C3661900|MONDO:MONDO:0009689,MedGen:C0393929,OMIM:254210,Orphanet:590]
92_LEU PRO VAR_011666 rs121912820
LP/P - Myasthenic syndrome, congenital, 6, presynaptic (CMS6) [MIM:254210]
92_LEU PRO ClinVar
chr10:50828590
rs121912820
Pathogenic - Familial infantile myasthenia [MONDO:MONDO:0009689,MedGen:C0393929,OMIM:254210,Orphanet:590]
92_LEU PRO gnomAD
chr10:50828590
rs121912820
- 0.000123284 -
93_PRO ALA VAR_011667 rs121912815
LP/P - Myasthenic syndrome, congenital, 6, presynaptic (CMS6) [MIM:254210]
93_PRO ALA ClinVar
chr10:50828592
rs121912815
Pathogenic - Familial infantile myasthenia|not provided [MONDO:MONDO:0009689,MedGen:C0393929,OMIM:254210,Orphanet:590|MedGen:C3661900]
94_VAL ASP ClinVar
chr10:50828596
rs1554802792
Likely pathogenic - Familial infantile myasthenia [MONDO:MONDO:0009689,MedGen:C0393929,OMIM:254210,Orphanet:590]
104_ARG PRO VAR_046684 rs8178989
LB/B - -
104_ARG GLN gnomAD
chr10:50828626
rs8178989
- 0.0001392 -
104_ARG PRO gnomAD
chr10:50828626
rs8178989
- 0.00081134 -
105_GLN TER 8.3kJPN
chr10:50828628
-
- 0.0001 -
119_SER ARG gnomAD
chr10:50830155
rs78925077
- 0.00380768 -
119_SER ARG 8.3kJPN
chr10:50830155
rs78925077
- 0.0039 -
125_LEU PHE VAR_046685 rs8178990
LB/B - -
125_LEU PHE gnomAD
chr10:50830171
rs8178990
- 0.0467966 -
126_SER ARG 8.3kJPN
chr10:50830176
-
- 0.0001 -
131_LEU VAL gnomAD
chr10:50830189
rs115510708
- 0.000787546 -
134_HIS TYR 8.3kJPN
chr10:50833520
rs376994468
- 0.0004 -
163_ARG TRP ClinVar
chr10:50833607
rs747108035
Likely pathogenic - Familial infantile myasthenia [MONDO:MONDO:0009689,MedGen:C0393929,OMIM:254210,Orphanet:590]
163_ARG TRP 8.3kJPN
chr10:50833607
rs747108035
- 0.0001 -
171_THR MET 8.3kJPN
chr10:50833632
rs139352363
- 0.0001 -
181_PRO LEU VAR_046686 rs868749
LB/B - -
181_PRO LEU gnomAD
chr10:50833662
rs868749
- 0.000874422 -
182_GLU ALA 8.3kJPN
chr10:50833665
-
- 0.0001 -
186_VAL ILE gnomAD
chr10:50833676
rs116362950
- 0.000118107 -
186_VAL ILE 8.3kJPN
chr10:50833676
rs116362950
- 0.0016 -
187_ILE THR VAR_011668 rs75466054
LP/P - Myasthenic syndrome, congenital, 6, presynaptic (CMS6) [MIM:254210]
187_ILE THR ClinVar
chr10:50833680
rs75466054
Pathogenic - Familial infantile myasthenia|Congenital myasthenic syndrome [MONDO:MONDO:0009689,MedGen:C0393929,OMIM:254210,Orphanet:590|MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462,Orphanet:590]
188_VAL ILE gnomAD
chr10:50833682
rs551219437
- 0.000200212 -
204_ARG CYS gnomAD
chr10:50835684
rs147815999
- 0.000210799 -
205_ARG HIS gnomAD
chr10:50835688
rs200176236
- 0.000143176 -
218_ILE THR VAR_038605 rs121912823
LP/P - Myasthenic syndrome, congenital, 6, presynaptic (CMS6) [MIM:254210]
218_ILE THR ClinVar
chr10:50835727
rs121912823
Pathogenic/Likely pathogenic - Familial infantile myasthenia|Abnormality of the musculature [MONDO:MONDO:0009689,MedGen:C0393929,OMIM:254210,Orphanet:590|Human Phenotype Ontology:HP:0003011,Human Phenotype Ontology:HP:0003197,Human Phenotype Ontology:HP:0003708,MedGen:C4021745]
225_GLU TER ClinVar
chr10:50835747
-
Pathogenic - Familial infantile myasthenia [MONDO:MONDO:0009689,MedGen:C0393929,OMIM:254210,Orphanet:590]
225_GLU LYS 8.3kJPN
chr10:50835747
rs778837182
- 0.0001 -
227_GLU LYS 8.3kJPN
chr10:50835753
rs200776329
- 0.0001 -
236_THR MET ClinVar
chr10:50835781
rs769234940
Pathogenic/Likely pathogenic - 11 conditions|Familial infantile myasthenia [11 conditions|MONDO:MONDO:0009689,MedGen:C0393929,OMIM:254210,Orphanet:590]
236_THR SER ClinVar
chr10:50835780
rs2132735749
Likely pathogenic - Familial infantile myasthenia [MONDO:MONDO:0009689,MedGen:C0393929,OMIM:254210,Orphanet:590]
239_GLY ARG gnomAD
chr10:50835789
rs61731735
- 0.000159236 -
239_GLY ARG 8.3kJPN
chr10:50835789
rs61731735
- 0.0001 -
245_GLU LYS gnomAD
chr10:50835807
rs75262191
- 0.000386371 -
257_ARG TRP gnomAD
chr10:50854562
rs141794970
- 0.000501516 -
257_ARG GLN gnomAD
chr10:50854563
rs201616704
- 0.000274574 -
261_ASP HIS gnomAD
chr10:50854574
rs115212829
- 0.000620599 -
274_ALA GLY VAR_011676 -
LB/B - -
274_ALA THR gnomAD
chr10:50854613
rs115877658
- 0.000159131 -
274_ALA THR 8.3kJPN
chr10:50854613
rs115877658
- 0.0001 -
282_ASP ASN VAR_046687 rs8178991
LB/B - -
282_ASP ASN gnomAD
chr10:50854637
rs8178991
- 0.013078 -
293_GLY TER ClinVar
chr10:50854670
-
Pathogenic/Likely pathogenic - Familial infantile myasthenia [MONDO:MONDO:0009689,MedGen:C0393929,OMIM:254210,Orphanet:590]
293_GLY ARG 8.3kJPN
chr10:50854670
rs746595362
- 0.0001 -
299_GLY ARG ClinVar
chr10:50854688
-
Likely pathogenic - Familial infantile myasthenia [MONDO:MONDO:0009689,MedGen:C0393929,OMIM:254210,Orphanet:590]
302_ARG CYS VAR_011669 rs121912822
LP/P - Myasthenic syndrome, congenital, 6, presynaptic (CMS6) [MIM:254210]
302_ARG CYS ClinVar
chr10:50854697
rs121912822
Likely pathogenic - Familial infantile myasthenia [MONDO:MONDO:0009689,MedGen:C0393929,OMIM:254210,Orphanet:590]
303_TRP SER ClinVar
chr10:50854701
-
Pathogenic - Familial infantile myasthenia [MONDO:MONDO:0009689,MedGen:C0393929,OMIM:254210,Orphanet:590]
303_TRP TER ClinVar
chr10:50854702
-
Pathogenic - Familial infantile myasthenia [MONDO:MONDO:0009689,MedGen:C0393929,OMIM:254210,Orphanet:590]
310_PHE LEU 8.3kJPN
chr10:50856555
-
- 0.0001 -
312_VAL MET ClinVar
chr10:50856559
rs745991038
Likely pathogenic - not provided [MedGen:C3661900]
314_ARG TER ClinVar
chr10:50856565
-
Likely pathogenic - Familial infantile myasthenia [MONDO:MONDO:0009689,MedGen:C0393929,OMIM:254210,Orphanet:590]
319_GLY SER 8.3kJPN
chr10:50856580
rs562560467
- 0.0001 -
323_GLU LYS VAR_011670 rs121912816
LP/P - Myasthenic syndrome, congenital, 6, presynaptic (CMS6) [MIM:254210]
340_LEU PHE gnomAD
chr10:50856643
rs76014951
- 0.00387992 -
345_GLN TER ClinVar
chr10:50857558
-
Pathogenic/Likely pathogenic - Familial infantile myasthenia [MONDO:MONDO:0009689,MedGen:C0393929,OMIM:254210,Orphanet:590]
346_SER ASN gnomAD
chr10:50857562
rs148525631
- 0.000312287 -
352_ARG TER ClinVar
chr10:50857579
rs142889639
Pathogenic - Familial infantile myasthenia [MONDO:MONDO:0009689,MedGen:C0393929,OMIM:254210,Orphanet:590]
356_VAL ILE 8.3kJPN
chr10:50857591
rs371719364
- 0.0002 -
357_GLU LYS 8.3kJPN
chr10:50857597
rs766947649
- 0.0002 -
361_ALA THR 8.3kJPN
chr10:50857606
rs3793795
- 0.0002 -
364_ARG GLY VAR_011671 rs121912818
LP/P - Myasthenic syndrome, congenital, 6, presynaptic (CMS6) [MIM:254210]
364_ARG GLY ClinVar
chr10:50857615
rs121912818
Likely pathogenic - Familial infantile myasthenia|not provided [MONDO:MONDO:0009689,MedGen:C0393929,OMIM:254210,Orphanet:590|MedGen:C3661900]
366_ARG GLN 8.3kJPN
chr10:50857622
rs771901229
- 0.0024 -
367_TRP TER ClinVar
chr10:50857626
-
Pathogenic - Familial infantile myasthenia [MONDO:MONDO:0009689,MedGen:C0393929,OMIM:254210,Orphanet:590]
369_CYS PHE 8.3kJPN
chr10:50857631
rs201293521
- 0.0001 -
380_SER LEU VAR_011672 rs121912821
LP/P - Myasthenic syndrome, congenital, 6, presynaptic (CMS6) [MIM:254210]
380_SER LEU ClinVar
chr10:50857664
rs121912821
Pathogenic - Familial infantile myasthenia [MONDO:MONDO:0009689,MedGen:C0393929,OMIM:254210,Orphanet:590]
380_SER PRO ClinVar
chr10:50857663
rs1409506586
Likely pathogenic - Familial infantile myasthenia [MONDO:MONDO:0009689,MedGen:C0393929,OMIM:254210,Orphanet:590]
386_ARG TER ClinVar
chr10:50857681
rs371470622
Pathogenic/Likely pathogenic - Familial infantile myasthenia [MONDO:MONDO:0009689,MedGen:C0393929,OMIM:254210,Orphanet:590]
388_VAL LEU VAR_011673 rs121912817
LP/P - Myasthenic syndrome, congenital, 6, presynaptic (CMS6) [MIM:254210]
388_VAL LEU ClinVar
chr10:50859934
rs121912817
Likely pathogenic - Familial infantile myasthenia [MONDO:MONDO:0009689,MedGen:C0393929,OMIM:254210,Orphanet:590]
396_TYR TER ClinVar
chr10:50859960
-
Pathogenic - Familial infantile myasthenia [MONDO:MONDO:0009689,MedGen:C0393929,OMIM:254210,Orphanet:590]
429_HIS TYR 8.3kJPN
chr10:50863145
-
- 0.0001 -
430_ARG TER ClinVar
chr10:50863148
rs369251527
Pathogenic - Familial infantile myasthenia|Congenital myasthenic syndrome [MONDO:MONDO:0009689,MedGen:C0393929,OMIM:254210,Orphanet:590|MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462,Orphanet:590]
434_PRO SER gnomAD
chr10:50863160
rs147079245
- 0.000441577 -
437_GLU LYS ClinVar
chr10:50863169
rs757303526
Likely pathogenic - Familial infantile myasthenia [MONDO:MONDO:0009689,MedGen:C0393929,OMIM:254210,Orphanet:590]
437_GLU TER ClinVar
chr10:50863169
rs757303526
Pathogenic/Likely pathogenic - Familial infantile myasthenia [MONDO:MONDO:0009689,MedGen:C0393929,OMIM:254210,Orphanet:590]
439_ALA THR ClinVar
chr10:50863175
rs372760913
Pathogenic/Likely pathogenic - Familial infantile myasthenia|not provided|Congenital myasthenic syndrome [MONDO:MONDO:0009689,MedGen:C0393929,OMIM:254210,Orphanet:590|MedGen:C3661900|MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462,Orphanet:590]
442_ARG HIS VAR_011674 rs121912819
LP/P - Myasthenic syndrome, congenital, 6, presynaptic (CMS6) [MIM:254210]
442_ARG CYS ClinVar
chr10:50863184
-
Likely pathogenic - Familial infantile myasthenia [MONDO:MONDO:0009689,MedGen:C0393929,OMIM:254210,Orphanet:590]
443_ARG TER ClinVar
chr10:50863187
rs1458796820
Pathogenic/Likely pathogenic - Familial infantile myasthenia [MONDO:MONDO:0009689,MedGen:C0393929,OMIM:254210,Orphanet:590]
443_ARG GLN gnomAD
chr10:50863188
rs80097077
- 0.00750135 -
454_SER TER ClinVar
chr10:50863221
rs753652169
Likely pathogenic - Congenital myasthenic syndrome 4C [MONDO:MONDO:0012157,MedGen:C1837091,OMIM:608931,Orphanet:590]
454_SER TRP ClinVar
chr10:50863221
rs753652169
Pathogenic - Familial infantile myasthenia [MONDO:MONDO:0009689,MedGen:C0393929,OMIM:254210,Orphanet:590]
456_THR ILE ClinVar
chr10:50863227
rs1839995781
Likely pathogenic - Familial infantile myasthenia [MONDO:MONDO:0009689,MedGen:C0393929,OMIM:254210,Orphanet:590]
494_VAL ALA 8.3kJPN
chr10:50863490
-
- 0.0001 -
508_ALA VAL 8.3kJPN
chr10:50870728
-
- 0.0001 -
510_ARG GLN gnomAD
chr10:50870734
rs114545628
- 0.000337996 -
513_ALA THR ClinVar
chr10:50870742
-
Pathogenic - Familial infantile myasthenia [MONDO:MONDO:0009689,MedGen:C0393929,OMIM:254210,Orphanet:590]
517_CYS TER ClinVar
chr10:50870756
-
Pathogenic - Familial infantile myasthenia [MONDO:MONDO:0009689,MedGen:C0393929,OMIM:254210,Orphanet:590]
519_GLU TER ClinVar
chr10:50870760
rs777684375
Pathogenic - Familial infantile myasthenia [MONDO:MONDO:0009689,MedGen:C0393929,OMIM:254210,Orphanet:590]
521_PRO LEU ClinVar
chr10:50870767
-
Likely pathogenic - Familial infantile myasthenia [MONDO:MONDO:0009689,MedGen:C0393929,OMIM:254210,Orphanet:590]
522_GLU LYS 8.3kJPN
chr10:50870769
rs774403163
- 0.0001 -
528_THR ILE 8.3kJPN
chr10:50870788
-
- 0.0001 -
534_ARG GLN gnomAD
chr10:50870806
rs116628504
- 0.000544792 -
534_ARG TRP 8.3kJPN
chr10:50870805
rs776977900
- 0.0001 -
534_ARG GLN 8.3kJPN
chr10:50870806
rs116628504
- 0.001 -
564_TYR TER ClinVar
chr10:50872891
-
Likely pathogenic - Familial infantile myasthenia [MONDO:MONDO:0009689,MedGen:C0393929,OMIM:254210,Orphanet:590]
576_SER CYS ClinVar
chr10:50872926
rs201439531
Pathogenic - 11 conditions|Familial infantile myasthenia [11 conditions|MONDO:MONDO:0009689,MedGen:C0393929,OMIM:254210,Orphanet:590]
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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.