No paralogue variants have been mapped to residue 1125 for SCN5A.
SCN5A | -EA---------EASASQADWRQQWKAEPQ>A<PG----CGETPE------------------ | 1133 |
SCN1A | ------------------------------>-<-------KLNES------------------ | 1148 |
SCN2A | ------------------------------>-<-------KLN-A------------------ | 1137 |
SCN3A | ------------------------------>-<-------KLN-A------------------ | 1135 |
SCN4A | ------------------------------>-<-------PLY-D------------------ | 959 |
SCN7A | ------------------------------>-<-------KIK-Q------------------ | 868 |
SCN8A | ------------------------------>-<-------KLD-D------------------ | 1128 |
SCN9A | ------------------------------>-<-------RLN-R------------------ | 1110 |
SCN10A | ------------------------------>-<-------GVD-D------------------ | 1080 |
SCN11A | -PT---------SQRVQSVEIDMFSEDEPH>L<TIQDPRKKSD-V-----------------T | 988 |
CACNA1A | DPGPMLAIPAMATNPQNAASRRTPNNPGNP>S<NPGPP--KTP-ENSLIVTNPSGTQTNSAKT | 1160 |
CACNA1B | KEKELR-NHQPREPHCDLETSGTVTVGPMH>T<LPSTC--LQK-VEEQPEDADNQRNVTRMGS | 1070 |
CACNA1C | ------------------------------>-<------------------------------ | |
CACNA1D | ------------------------------>-<------------------------------ | |
CACNA1E | S------QSEPDLSCITAN----------->-<--TDK--ATT-ESTSVTVAIPDVDP----- | 1079 |
CACNA1F | ------------------------------>-<------------------------------ | |
CACNA1G | ------------------------------>-<------------------------------ | |
CACNA1H | ------------------------------>-<------------------------------ | |
CACNA1I | ------------------------------>-<------------------------------ | |
CACNA1S | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A1125G | c.3374C>G | Putative Benign | SIFT: Polyphen: |