No paralogue variants have been mapped to residue 1875 for SCN5A.
SCN5A | CMDILFAFTKRVLGES--G---EMDALKIQ>M<EEKFMA---ANP-SKISYEPITTTLRRKHE | 1901 |
SCN1A | CLDILFAFTKRVLGES--G---EMDALRIQ>M<EERFMA---SNP-SKVSYQPITTTLKRKQE | 1915 |
SCN2A | CLDILFAFTKRVLGES--G---EMDALRIQ>M<EERFMA---SNP-SKVSYEPITTTLKRKQE | 1905 |
SCN3A | CLDILFAFTKRVLGES--G---EMDALRIQ>M<EDRFMA---SNP-SKVSYEPITTTLKRKQE | 1900 |
SCN4A | CLDILFALTKEVLGDS--G---EMDALKQT>M<EEKFMA---ANP-SKVSYEPITTTLKRKHE | 1727 |
SCN7A | CLDILLAFTKRVMGQD--V---RMEKVVSE>I<ESGFLL---ANP-FKITCEPITTTLKRKQE | 1625 |
SCN8A | CLDILFAFTKRVLGDS--G---ELDILRQQ>M<EERFVA---SNP-SKVSYEPITTTLRRKQE | 1895 |
SCN9A | CLDILFAFTKRVLGES--G---EMDSLRSQ>M<EERFMS---ANP-SKVSYEPITTTLKRKQE | 1878 |
SCN10A | CLDILFAFTKNVLGES--G---ELDSLKAN>M<EEKFMA---TNL-SKSSYEPIATTLRWKQE | 1851 |
SCN11A | CMDILFAFTARVLGGS--D---GLDSMKAM>M<EEKFME---ANP-LKKLYEPIVTTTKRKEE | 1733 |
CACNA1A | FNSTLMALIRTALDIKIAKGGADKQQMDAE>L<RKEMMAIW-PNL-SQKTLDLLVTPHKSTDL | 1951 |
CACNA1B | FTSTLMALIRTALEIKLAPAGTKQHQCDAE>L<RKEISVVW-ANL-PQKTLDLLVPPHKPDEM | 1850 |
CACNA1C | FNATLFALVRTALRIKTEG---NLEQANEE>L<RAIIKKIW-KRT-SMKLLDQVVPPAGDDEV | 1613 |
CACNA1D | FNATLFALVRTALKIKTEG---NLEQANEE>L<RAVIKKIW-KKT-SMKLLDQVVPPAGDDEV | 1621 |
CACNA1E | FTSTLMALIRTALDIKIAKGGADRQQLDSE>L<QKETLAIW-PHL-SQKMLDLLVPMPKASDL | 1863 |
CACNA1F | FNATLFALVRTSLKIKTEG---NLEQANQE>L<RIVIKKIW-KRM-KQKLLDEVIPPPDEEEV | 1578 |
CACNA1G | HFSLEHPTDRQLFDTI---S--LLIQGSLE>W<ELKLMDEL-AGPGGQPSAFPSAPSLGGSDP | 1974 |
CACNA1H | -------LVARKV----------------S>V<SRML-SLPNDSYM----FRPVVPASAPHPR | 1946 |
CACNA1I | WLDSVSLIIKDSL----------------E>G<ELTIIDNL-SGSI----FHHYSSPAGCKKC | 1841 |
CACNA1S | FNATLFALVRTALKIKTEG---NFEQANEE>L<RAIIKKIW-KRT-SMKLLDQVIPPIGDDEV | 1518 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.M1875T | c.5624T>C | Inherited Arrhythmia | AF | rs199473324 | SIFT: deleterious Polyphen: possibly damaging |
Reports | Inherited Arrhythmia | AF | A novel SCN5A gain-of-function mutation M1875T associated with familial atrial fibrillation. J Am Coll Cardiol. 2008 52(16):1326-34. 18929244 | ||
p.M1875K | c.5624T>A | Putative Benign | SIFT: Polyphen: |