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 |
Unicolor (beige)
The number of binding partners
Group
Binding state |
Binding partners |
---|---|
2FY4 (CHAIN: A) | |
1 | Monomeric state |
Only interaction residues |
|
||||
|
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] |