No paralogue variants have been mapped to residue 2016 for SCN5A.
SCN5A | -----------------DFPPSPDRDRESI>V< | 2016 |
SCN1A | ---------------------KG------->K< | 2009 |
SCN2A | ---------------------KGKDIRESK>K< | 2005 |
SCN3A | ---------------------KGKEVRENQ>K< | 2000 |
SCN4A | ---------------------VRPGVKESL>V< | 1836 |
SCN7A | --------------------------IQSQ>I< | 1682 |
SCN8A | ---------------------RQKEVRESK>C< | 1980 |
SCN9A | ---------------------KGKDSKESK>K< | 1977 |
SCN10A | ---------------------TSMELIAPG>P< | 1956 |
SCN11A | ------------------------------>D< | 1791 |
CACNA1A | -----------------RSPSEGREHMAHR>Q< | 2261 |
CACNA1B | -----------SGGR--ARHSYHHPDQDHW>C< | 2340 |
CACNA1C | --GCV-----RARGRPSEEELQDSRVYVSS>L< | 2138 |
CACNA1D | --E-E-----PDPGR-DEEDLADEMICITT>L< | 2181 |
CACNA1E | --GPG-----PGMMCGAVNNLLSDTEEDDK>C< | 2313 |
CACNA1F | --E-E-----SILSRFDEEDLGDEMACVHA>L< | 1977 |
CACNA1G | ------------------------------>P< | 2377 |
CACNA1H | VPQ-CPLEKPGSPSA--TPA-PG-GGADDP>V< | 2353 |
CACNA1I | ---------PQPLPG--ELE-PGDAASKRK>R< | 2223 |
CACNA1S | ----G-----SSLGSLDQHQGSQETLIPPR>L< | 1873 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V2016M | c.6046G>A | Inherited Arrhythmia | SIFT: Polyphen: | ||
Reports | Inherited Arrhythmia | BrS | PDZ domain-binding motif regulates cardiomyocyte compartment-specific NaV1.5 channel expression and function. Circulation. 2014 130(2):147-60. doi: 10.1161/CIRCULATIONAHA.113.007 24895455 |