No paralogue variants have been mapped to residue 1880 for SCN5A.
SCN5A | FAFTKRVLGES--G---EMDALKIQMEEKF>M<A---ANP-SKISYEPITTTLRRKHEEVS-- | 1904 |
SCN1A | FAFTKRVLGES--G---EMDALRIQMEERF>M<A---SNP-SKVSYQPITTTLKRKQEEVS-- | 1918 |
SCN2A | FAFTKRVLGES--G---EMDALRIQMEERF>M<A---SNP-SKVSYEPITTTLKRKQEEVS-- | 1908 |
SCN3A | FAFTKRVLGES--G---EMDALRIQMEDRF>M<A---SNP-SKVSYEPITTTLKRKQEEVS-- | 1903 |
SCN4A | FALTKEVLGDS--G---EMDALKQTMEEKF>M<A---ANP-SKVSYEPITTTLKRKHEEVC-- | 1730 |
SCN7A | LAFTKRVMGQD--V---RMEKVVSEIESGF>L<L---ANP-FKITCEPITTTLKRKQEAVS-- | 1628 |
SCN8A | FAFTKRVLGDS--G---ELDILRQQMEERF>V<A---SNP-SKVSYEPITTTLRRKQEEVS-- | 1898 |
SCN9A | FAFTKRVLGES--G---EMDSLRSQMEERF>M<S---ANP-SKVSYEPITTTLKRKQEDVS-- | 1881 |
SCN10A | FAFTKNVLGES--G---ELDSLKANMEEKF>M<A---TNL-SKSSYEPIATTLRWKQEDIS-- | 1854 |
SCN11A | FAFTARVLGGS--D---GLDSMKAMMEEKF>M<E---ANP-LKKLYEPIVTTTKRKEEERG-- | 1736 |
CACNA1A | MALIRTALDIKIAKGGADKQQMDAELRKEM>M<AIW-PNL-SQKTLDLLVTPHKSTDLTVGKI | 1956 |
CACNA1B | MALIRTALEIKLAPAGTKQHQCDAELRKEI>S<VVW-ANL-PQKTLDLLVPPHKPDEMTVGKV | 1855 |
CACNA1C | FALVRTALRIKTEG---NLEQANEELRAII>K<KIW-KRT-SMKLLDQVVPPAGDDEVTVGKF | 1618 |
CACNA1D | FALVRTALKIKTEG---NLEQANEELRAVI>K<KIW-KKT-SMKLLDQVVPPAGDDEVTVGKF | 1626 |
CACNA1E | MALIRTALDIKIAKGGADRQQLDSELQKET>L<AIW-PHL-SQKMLDLLVPMPKASDLTVGKI | 1868 |
CACNA1F | FALVRTSLKIKTEG---NLEQANQELRIVI>K<KIW-KRM-KQKLLDEVIPPPDEEEVTVGKF | 1583 |
CACNA1G | HPTDRQLFDTI---S--LLIQGSLEWELKL>M<DEL-AGPGGQPSAFPSAPSLGGSDP----- | 1974 |
CACNA1H | --LVARKV----------------SVSRML>-<SLPNDSYM----FRPVVPASAPHPR----- | 1946 |
CACNA1I | SLIIKDSL----------------EGELTI>I<DNL-SGSI----FHHYSSPAGCKKCHHDKQ | 1846 |
CACNA1S | FALVRTALKIKTEG---NFEQANEELRAII>K<KIW-KRT-SMKLLDQVIPPIGDDEVTVGKF | 1523 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.M1880V | c.5638A>G | Other Cardiac Phenotype | SIFT: Polyphen: | ||
Reports | Other Cardiac Phenotype | Sodium channelopathy underlying familial sick sinus syndrome with early onset and predominantly male characteristics. Circ Arrhythm Electrophysiol. 2014 7(3):511-7. doi: 10.1161/CIRCEP.113.001340. 24762805 |