No paralogue variants have been mapped to residue 2012 for SCN5A.
SCN5A | ---------------------DFPPSPDRD>R<ESIV | 2016 |
SCN1A | -------------------------KG--->-<---K | 2009 |
SCN2A | -------------------------KGKDI>R<ESKK | 2005 |
SCN3A | -------------------------KGKEV>R<ENQK | 2000 |
SCN4A | -------------------------VRPGV>K<ESLV | 1836 |
SCN7A | ------------------------------>I<QSQI | 1682 |
SCN8A | -------------------------RQKEV>R<ESKC | 1980 |
SCN9A | -------------------------KGKDS>K<ESKK | 1977 |
SCN10A | -------------------------TSMEL>I<APGP | 1956 |
SCN11A | ------------------------------>-<---D | 1791 |
CACNA1A | ---------------------RSPSEGREH>M<AHRQ | 2261 |
CACNA1B | S--------------SGGR--ARHSYHHPD>Q<DHWC | 2340 |
CACNA1C | ------GCV-----RARGRPSEEELQDSRV>Y<VSSL | 2138 |
CACNA1D | ------E-E-----PDPGR-DEEDLADEMI>C<ITTL | 2181 |
CACNA1E | G-----GPG-----PGMMCGAVNNLLSDTE>E<DDKC | 2313 |
CACNA1F | ------E-E-----SILSRFDEEDLGDEMA>C<VHAL | 1977 |
CACNA1G | ------------------------------>-<---P | 2377 |
CACNA1H | LYLTVPQ-CPLEKPGSPSA--TPA-PG-GG>A<DDPV | 2353 |
CACNA1I | -------------PQPLPG--ELE-PGDAA>S<KRKR | 2223 |
CACNA1S | --------G-----SSLGSLDQHQGSQETL>I<PPRL | 1873 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R2012C | c.6034C>T | Inherited Arrhythmia | LQTS | rs199473640 | SIFT: deleterious Polyphen: probably damaging |
Reports | Inherited Arrhythmia | LQTS | Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009 6(9):1297-303. 19716085 | ||
p.R2012H | c.6035G>A | Inherited Arrhythmia | SIFT: Polyphen: | ||
Reports | Inherited Arrhythmia | BrS | Electrophysiological characterization of a large set of novel variants in the SCN5A-gene: identification of novel LQTS3 and BrS mutations. Pflugers Arch. 2016 468(8):1375-87. doi: 10.1007/s00424-016-1844-3. 27287068 |