No paralogue variants have been mapped to residue 1055 for SCN5A.
SCN5A | -------------------PVCVPIAVAES>D<------TDD------------QEED----- | 1062 |
SCN1A | ----------------PSLTVTVPIAVGES>D<------FEN------------LNTE----- | 1130 |
SCN2A | ----------------PSLTVTVPIAVGES>D<------FEN------------LNTE----- | 1120 |
SCN3A | ----------------PSLTVTVPIAVGES>D<------FEN------------LNTE----- | 1118 |
SCN4A | ----------------PYLTIQVPIASEES>D<------LEM------------PTEE----- | 939 |
SCN7A | ----------------PSVSETVPIASGES>D<------IEN------------LDNK----- | 851 |
SCN8A | ----------------PNLTVRVPIAVGES>D<------FEN------------LNTE----- | 1111 |
SCN9A | ----------------PSLTVTVPIAPGES>D<------LEN------------MNAE----- | 1093 |
SCN10A | ----------------PTVWVSVPIAEGES>D<------LDD------------LEDDGGEDA | 1017 |
SCN11A | -------------------TWLAPLAEEED>D<------VEF------------SGED----- | 932 |
CACNA1A | AERGKAGDPHRRHVHRQGGSRESRSGSPRT>G<------ADGEHRRHRAHRR--PGEEGP-ED | 972 |
CACNA1B | SERGR-------GPGPEGGRRHHRRGSPEE>A<------AEREPRRHRAHRH--QDPSKE-CA | 949 |
CACNA1C | ----------GESK---------------->-<---------------EEKIELKSIT----- | 810 |
CACNA1D | ------------------------------>-<---------------------NQIA----- | 817 |
CACNA1E | VTFED-----------RARHRQSQRRSRHR>R<VRTEGKESSSASRSRSASQERSLDEAM-PT | 954 |
CACNA1F | ------------------------------>-<------------------------------ | |
CACNA1G | -----------------SLKRRSPSGERRS>L<------LSG------------EGQESQ-DE | 1142 |
CACNA1H | -----------------SLKRRGQCGERES>L<------LSG------------EGKGST-DD | 1177 |
CACNA1I | -----------------------PSAEHES>L<------LSA------------ERGGGARVC | 1018 |
CACNA1S | ------------------------------>-<---------------------EQKP----- | 709 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.D1055G | c.3164A>G | Inherited Arrhythmia | BrS | rs199473593 | SIFT: deleterious Polyphen: benign |
Reports | Inherited Arrhythmia | BrS | An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. Heart Rhythm. 2010 7(1):33-46. 20129283 |