No paralogue variants have been mapped to residue 1962 for SCN5A.
SCN5A | ---------------------NF-SRPLG->P<PSS--------------------------- | 1965 |
SCN1A | ---------------------NS-I----->T<EKT--------------------------- | 1973 |
SCN2A | ---------------------NS-T----->P<EKT--------------------------- | 1963 |
SCN3A | ---------------------NS-T----->P<EKT--------------------------- | 1958 |
SCN4A | ---------------------NSSS----->P<SPE--------------------------- | 1793 |
SCN7A | ------------------------------>-<------------------------------ | |
SCN8A | ---------------------GT-H----->R<EKK--------------------------- | 1935 |
SCN9A | ---------------------NS-S----->P<EKT--------------------------- | 1935 |
SCN10A | ---------------------NC-V---L->P<DKS--------------------------- | 1909 |
SCN11A | ---------------------PH-----S->P<LQT--------------------------- | 1772 |
CACNA1A | QEMFQKTGTWSPEQGPPTDMPNSQP-NSQS>V<EMREMGRDG-YSDSEHYLPMEGQGRAASMP | 2095 |
CACNA1B | QDAPHEA-RPPLERGHSTEIPVGRS-GALA>V<DVQMQSITRRGPDGEPQPGLESQGRAASMP | 2004 |
CACNA1C | ---------------------ASED-DIFR>R<AGGLFGNHV-SYYQSDG--------RSAFP | 1719 |
CACNA1D | ---------------------EEED-DVFK>R<NGALLGNHV-NHVNSDR--------RDSLQ | 1722 |
CACNA1E | QDIFQLACMDPADDGQFQERQSLEP-EVSE>L<KSVQPSNHG-IYLPSDTQEHAGSGRASSMP | 2002 |
CACNA1F | ---------------------EDEK-DLET>N<KATMVSQPS-AR---RG--------SGISV | 1679 |
CACNA1G | SRTHSLPNDSYMCRHGSTAEGPLGH-RGWG>L<PKA--------------Q----SGSVLSVH | 2083 |
CACNA1H | AEPGEKTPVRPVTQGGSLQSPPRSP-RPAS>V<RT--------------RK----HTFGQRCV | 2079 |
CACNA1I | SWLKHDSSQAPPSPFSPDASSPLLP-MPAE>F<FHPAVSASQ-KGPEKGTG----TGTLPKIA | 1989 |
CACNA1S | ---------------------AMEE-GIFR>R<TGGLFGQVD-NFL--ER--------TNSLP | 1619 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P1962L | c.5885C>T | Putative Benign | rs199473638 | SIFT: deleterious Polyphen: possibly damaging | |
Reports | Putative Benign | Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300 | |||
Putative Benign | 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 | ||||
Unknown | Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy. Heart. 2015 101(4):294-301. doi: 10.1136/heartjnl-2014-306387. 25351510 |