No paralogue variants have been mapped to residue 1088 for SCN5A.
SCN5A | --------------------------GGPE>A<P-----PDSRTWSQVSATASS------EA- | 1106 |
SCN1A | ------------------------------>-<------------------------------ | |
SCN2A | ------------------------------>-<------------------------------ | |
SCN3A | ------------------------------>-<------------------------------ | |
SCN4A | ------------------------------>-<------------------------------ | |
SCN7A | ------------------------------>-<------------------------------ | |
SCN8A | ------------------------------>-<------------------------------ | |
SCN9A | ------------------------------>-<------------------------------ | |
SCN10A | ------------------------------>-<------------------------------ | |
SCN11A | ------------------------------>-<---------------HQENKK------PT- | 957 |
CACNA1A | STTRPIQQDLGRQDPPLAEDIDNMKNNKLA>T<AESAAPHGSLGHAGLPQSPAKMGNSTDPGP | 1106 |
CACNA1B | ------------------------------>-<---EKE--------ATEKEAEIVEADKEKE | 1017 |
CACNA1C | ------------------------------>-<------EMPVGPRP---------------- | 859 |
CACNA1D | ------------------------------>-<------EVPAGPRP---------------- | 865 |
CACNA1E | ------------------------------>-<--------------MGRVI-------S--- | 1047 |
CACNA1F | ------------------------------>-<------EEEGAGGV---------------- | 830 |
CACNA1G | ------------------------------>-<------NLSKGERV---------------- | 1236 |
CACNA1H | ------------------------------>-<------EDSCCLRL---------------- | 1254 |
CACNA1I | ------------------------------>-<------DYTLCFRV---------------- | 1130 |
CACNA1S | ------------------------------>-<------EIPLSPRP---------------- | 758 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A1088T | c.3262G>A | Putative Benign | rs369704754 | SIFT: tolerated Polyphen: benign | |
p.A1088V | c.3263C>T | Putative Benign | SIFT: Polyphen: |