No paralogue variants have been mapped to residue 1949 for SCN5A.
SCN5A | RQ---------QAGSGLSEEDAPEREGL-I>A<YVM--------------------------- | 1952 |
SCN1A | NK---------NKIKG--GANLLIKEDM-I>I<DRI--------------------------- | 1964 |
SCN2A | KK---------DKGKE--CDGTPIKEDT-L>I<DKL--------------------------- | 1954 |
SCN3A | NK---------EAIKG--RIDLPIKQDM-I>I<DKL--------------------------- | 1949 |
SCN4A | RH---------SHDGS--GDDAPEKEGL-L>A<NTM-SKMY---------------------G | 1781 |
SCN7A | MI---------DGDR----DVHATKEGA-Y>F<DKA--------------------------- | 1672 |
SCN8A | ------------------------KKTT-S>N<KLE--------------------------- | 1926 |
SCN9A | IK---------DGDRD---DDLLNKKDM-A>F<DNV--------------------------- | 1926 |
SCN10A | VP---------RAEEE---AASLPDEGF-V>A<FTA--------------------------- | 1899 |
SCN11A | -Q-----------------------NDL-->-<--E--------------------------- | 1763 |
CACNA1A | EQDRTPLMFQRMEPPS------PTQ----->-<-EG-GP-G-------QNALPS-TQLDPGGA | 2017 |
CACNA1B | LS----QMGPVSLFHP------LKATLE-Q>T<-QPAVLRGARVFLR-QKS--S-TSLSNGGA | 1926 |
CACNA1C | PS--------QRNALS-L-QAGLRTL-H-D>I<GPE-IRRA-------ISG----DLTAEEE- | 1678 |
CACNA1D | PA--------KNTTIA-L-QAGLRTL-H-D>I<GPE-IRRA-------ISC----DLQDDEP- | 1687 |
CACNA1E | EQ-KNAPMFQRMEPSS------LPQ----->-<-EI-IA-N-------AKALPY-LQQDPVSG | 1928 |
CACNA1F | AA--------PSTSSA-L-QAGLRSL-Q-D>L<GPE-MRQA-------LTC----DTEEEEE- | 1644 |
CACNA1G | -------------SLA------LTD----->-<-DSLP--------DDMHTLLLSALESN-MQ | 2022 |
CACNA1H | AE-SCASLQIPLAVSS------PAR----->-<-SGEPLHALSPRGTARSPSLSRLLCRQ-EA | 2018 |
CACNA1I | LS-LEDPTACPPGRKD------SKG----->-<-ELDP-----PEPMRVGDLGECFFPLS-ST | 1912 |
CACNA1S | RP--------KKDIVQ-I-QAGLRTI-EEE>A<APE-ICRT-------VSG----DLAAEEE- | 1583 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A1949S | c.5845G>T | Inherited Arrhythmia | LQTS | rs199473330 | SIFT: tolerated Polyphen: probably damaging |
Reports | Inherited Arrhythmia | LQTS | Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. Heart Rhythm. 2005 2(5):507-17. 15840476 | ||
p.A1949P | c.5845G>C | Inherited Arrhythmia | BrS | SIFT: deleterious Polyphen: possibly damaging | |
Reports | Inherited Arrhythmia | BrS | Novel sodium channel SCN5A mutations in Brugada syndrome patients from Greece. Int J Cardiol. 2010 145(1):45-8. 19406494 | ||
p.A1949T | c.5845G>A | Putative Benign | SIFT: Polyphen: |