No paralogue variants have been mapped to residue 1105 for SCN5A.
SCN5A | PEAP-----PDSRTWSQVSATASS------>E<A---------EASASQADWRQQWKAEPQAP | 1126 |
SCN1A | ------------------------------>-<------------------------------ | |
SCN2A | ------------------------------>-<------------------------------ | |
SCN3A | ------------------------------>-<------------------------------ | |
SCN4A | ------------------------------>-<------------------------------ | |
SCN7A | ------------------------------>-<------------------------------ | |
SCN8A | ------------------------------>-<------------------------------ | |
SCN9A | ------------------------------>-<------------------------------ | |
SCN10A | ------------------------------>-<------------------------------ | |
SCN11A | ------------------HQENKK------>P<T---------SQRVQSVEIDMFSEDEPHLT | 977 |
CACNA1A | LATAESAAPHGSLGHAGLPQSPAKMGNSTD>P<GPMLAIPAMATNPQNAASRRTPNNPGNPSN | 1134 |
CACNA1B | ------EKE--------ATEKEAEIVEADK>E<KELR-NHQPREPHCDLETSGTVTVGPMHTL | 1044 |
CACNA1C | ---------EMPVGPRP------------->-<------------------------------ | 859 |
CACNA1D | ---------EVPAGPRP------------->-<------------------------------ | 865 |
CACNA1E | -----------------MGRVI-------S>-<-----QSEPDLSCITAN------------- | 1059 |
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.E1105V | c.3314A>T | Putative Benign | SIFT: Polyphen: |