No paralogue variants have been mapped to residue 1990 for SCN5A.
SCN5A | --------------------RA-TSDN-LQ>V<RG---------------------------- | 1992 |
SCN1A | --------------------KP-IVEK-HE>-<------------------------------ | 1998 |
SCN2A | --------------------KP-EKEK-FE>-<------------------------------ | 1987 |
SCN3A | --------------------KP-DKEK-FE>-<------------------------------ | 1982 |
SCN4A | --------------------IS-PSDTAWP>-<------------------------------ | 1818 |
SCN7A | --------------------------K--->-<------------------------------ | 1675 |
SCN8A | --------------------KP-EKEK-QQ>R<AE---------------------------- | 1962 |
SCN9A | --------------------KP-DKEK-YE>-<------------------------------ | 1959 |
SCN10A | --------------------RG-LSDR-VN>M<RT---------------------------- | 1936 |
SCN11A | --------------------SF-GVAK--->-<------------------------------ | 1785 |
CACNA1A | -----GTDLSMTTQSGDLP------SK-ER>D<QERGRPKDR--------------------- | 2206 |
CACNA1B | -----SSAVGPGLPPGEGPTGC-RRER-ER>R<QERGRSQERRQPSSSSS----EKQRFYSCD | 2132 |
CACNA1C | EEDKRDIRQSPKRGFLRSA-SL-GR-R-AS>F<HLECLKRQKDRGGDIS-----Q-------- | 1916 |
CACNA1D | SPVCYDSRRSPRRRLLPPT-PASHR-R-SS>F<NFECLRRQSSQEEVPSSPIFPH-------- | 1965 |
CACNA1E | -----KSDT----------------HR-SG>G<RERGRSKERKHLLSPDV----SRCN--SEE | 2104 |
CACNA1F | AQRYMDGHLVPRRRLLPPT-PA-GR-K-PS>F<TIQCLQRQGSCEDLPIPGTY---------- | 1823 |
CACNA1G | ------SHSKISKHMTPPA-PCPGP-E-PN>W<GKGPPETRSSLELDTE-------------- | 2220 |
CACNA1H | ------------------G-PEASP-V-AG>G<E----------------------------- | 2129 |
CACNA1I | -----------RRALGPPA-PAPGP-R-AG>L<S----------------------------- | 2060 |
CACNA1S | -------PATRGRALGQPCRVL-GP-H-SK>P<CVEMLKG----------------------- | 1724 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V1990L | c.5968G>C | Putative Benign | SIFT: Polyphen: | ||
Reports | 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 | |||
p.V1990M | c.5968G>A | Putative Benign | SIFT: Polyphen: |