No paralogue variants have been mapped to residue 2014 for CACNA1C.
CACNA1C | NSSFPSIHCGSWAETTPGGGGSSAARRVRP>V<SLMVPSQA---GAPGRQFHGSASSLVEA-- | 2039 |
CACNA1A | ------------------------------>-<------------------------------ | |
CACNA1B | S--PIHFA--------------------GA>Q<TSLPAFSP---GRLSRGLSEHNA-----LL | 2240 |
CACNA1D | NGSLPSLHRSSWYTDEP----DISYRTFTP>A<SLTVPSSF---RNKNSDKQRSADSLVEA-- | 2084 |
CACNA1E | H--AGSIS--------------------PP>A<DGSEEGSP---LT-SQALESNNACLTESSN | 2212 |
CACNA1F | LGRS-----------------SGPLRTFT->-<CLHVPGTH---SDPSHGKRGSADSLVEA-- | 1901 |
CACNA1G | QRRPTSWLDEQRRHSIAVSCLDSGSQPHLG>T<DPSNLGG---QPLGGPGSRPKKKLSPPS-- | 2310 |
CACNA1H | LDKPGR-ADEQWRPSAELGSGEP------->G<EAKAWGP---EAEPALGARRKKKMSPPC-- | 2191 |
CACNA1I | FSLRG--LRAHQRSHSSGGSTSPGCTHHDS>M<DPSDEEGRGGAGGGGAGSEHSETLSSLS-- | 2131 |
CACNA1S | SSTPGSLHE-----ETP------------->-<--HSRSTR---ENTSRCSAPATALLIQK-- | 1790 |
SCN10A | ---E-------------------------->-<-----------------------A------ | 1946 |
SCN11A | ------------------------------>-<------------------------------ | |
SCN1A | ------------------------------>-<------------------------------ | |
SCN2A | ------------------------------>-<------------------------------ | |
SCN3A | ------------------------------>-<------------------------------ | |
SCN4A | ------------------------------>-<------------------------------ | |
SCN5A | ---L-------------------------->-<-----------------------A------ | 2002 |
SCN7A | ------------------------------>-<------------------------------ | |
SCN8A | ------------------------------>-<------------------------------ | |
SCN9A | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V2014I | c.6040G>A | Inherited Arrhythmia | BrS | rs199473660 | SIFT: tolerated Polyphen: |
Reports | Inherited Arrhythmia | BrS | Mutations in the cardiac L-type calcium channel associated with inherited J-wave syndromes and sudden cardiac death. Heart Rhythm. 2010 7(12):1872-82. 20817017 | ||
Inherited Arrhythmia | BrS | High prevalence of genetic variants previously associated with Brugada syndrome in new exome data. Clin Genet. 2013 23414114 | |||
Inherited Arrhythmia | BrS | Actionable, pathogenic incidental findings in 1,000 participants' exomes. Am J Hum Genet. 2013 93(4):631-40. doi: 10.1016/j.ajhg.2013.08.006. 24055113 | |||
Unknown | Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Res. 2015 25(3):305-15. doi: 10.1101/gr.183483.114. 25637381 |