No paralogue variants have been mapped to residue 834 for CACNA1C.
CACNA1C | SPPA-----------TKINMDDLQPNENED>K<----SPYPNP---ET-----TGEEDEEEP- | 851 |
CACNA1A | ------------------------------>-<------------------------------ | |
CACNA1B | ------------------------------>-<------------------------------ | |
CACNA1D | ---------------NKVTIDDYRE-EDED>K<----DPYPPC---DVPVGEEEEEEEEDEP- | 857 |
CACNA1E | RGSG----------LAG-GLD--------->-<---------EADTPL-----VLPHPELEVG | 1016 |
CACNA1F | ---------------EK-------E-EEE->G<----ARREGA---DMEEEEEEEEEEEEEE- | 822 |
CACNA1G | RTASGR--GSASEHQDCNGKS---ASGRLA>R<ALRPDD---P---PL-----DGDDADDEG- | 1228 |
CACNA1H | PRPLRPAALPPTKCRDRDGQV---VALPSD>F<FLRIDS---H---RE-----DAAELDDDS- | 1246 |
CACNA1I | PRAAWRAAGPAPGHEDCNGRM---PSIAKD>V<FTKMGD-------RG-----DRGEDEEEI- | 1122 |
CACNA1S | IPTT-----------AKLKIDEFESNVNEV>K<----DPYPSA---DF-----PGDDEEDEP- | 750 |
SCN10A | CGDHLTPRSPGTGTSSEDLAP---SLG--->-<-------------E-----TWKDESVPQV- | 1073 |
SCN11A | ------------------------------>-<-------------------NAQRITQPEP- | 942 |
SCN1A | ------------------------------>-<-------------------DFSSESDLEE- | 1140 |
SCN2A | ------------------------------>-<-------------------EFSSESDMEE- | 1130 |
SCN3A | ------------------------------>-<-------------------EFSSESELEE- | 1128 |
SCN4A | ------------------------------>-<-------------------ETDTFSEPED- | 949 |
SCN5A | ------------------------------>-<-------------------EENSLGTEEE- | 1072 |
SCN7A | ------------------------------>-<-------------------EIQSKSGDGG- | 861 |
SCN8A | ------------------------------>-<-------------------DVSSESDPEG- | 1121 |
SCN9A | ------------------------------>-<-------------------ELSSDSDSEY- | 1103 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.K834E | c.2500A>G | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
Reports | Inherited Arrhythmia | LQTS | Exome sequencing and systems biology converge to identify novel mutations in the L-type calcium channel, CACNA1C, linked to autosomal dominant long QT syndrome. Circ Cardiovasc Genet. 2013 6(3):279-89. 23677916 |