No paralogue variants have been mapped to residue 1780 for CACNA1C.
CACNA1C | -------SSTGSNANI--NNANNTALGRLP>R<PAG----YPSTVSTVEGHGPPLSPAIR--V | 1804 |
CACNA1A | -----------------------ENQRRRG>R<PR----------GNNLSTISDTSPMKRSAS | 2127 |
CACNA1B | -----------------------ETQ---->-<P-----------------VTDASPMKRSIS | 2024 |
CACNA1D | HNSIGKQVPTSTNANL--NNANMSKAAHGK>R<PSIGNLEHVSENGHHSSHKHDREPQRRSSV | 1821 |
CACNA1E | -----------------------DPQ---->-<-----------------VVTDPSSMRRSFS | 2022 |
CACNA1F | -------TPTSSQPSV--PQAGSNTHRRGS>G<------------------------------ | 1723 |
CACNA1G | --------WGTIPKLPPPG---RSPL---->-<-------------AQRPLRRQAAIRTDSLD | 2142 |
CACNA1H | --------WQPTAEPH-------------->-<------------------------------ | 2118 |
CACNA1I | --------AGSL-QTTLED---SLT----->-<----------------------LSDSP--- | 2042 |
CACNA1S | -------TNPLARANT--NNAN-------->-<------------------------------ | 1665 |
SCN10A | --------PSYESVT--------------->-<------------------------------ | 1925 |
SCN11A | ---------CNGDLS--------------->-<------------------------------ | 1779 |
SCN1A | --------PSYDRVT--------------->-<------------------------------ | 1990 |
SCN2A | --------PSYDSVT--------------->-<------------------------------ | 1979 |
SCN3A | --------PSYDSVT--------------->-<------------------------------ | 1974 |
SCN4A | --------PTMGLMP--------------->-<------------------------------ | 1809 |
SCN5A | --------PSYDSVT--------------->-<------------------------------ | 1981 |
SCN7A | ------------------------------>-<------------------------------ | |
SCN8A | --------PSYDSVT--------------->-<------------------------------ | 1951 |
SCN9A | --------PSYDSVT--------------->-<------------------------------ | 1951 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R1780C | c.5338C>T | Putative Benign | rs371760034 | SIFT: tolerated Polyphen: benign | |
p.R1780H | c.5339G>A | Inherited Arrhythmia | BrS | SIFT: Polyphen: | |
Reports | Inherited Arrhythmia | BrS | L-type calcium channel mutations in Japanese patients with inherited arrhythmias. Circ J. 2013 77(7):1799-806. 23575362 |