No paralogue variants have been mapped to residue 1667 for CACNA1C.
CACNA1C | ---QRNALS-L-QAGLRTL-H-DIGPE-IR>R<A-------ISG----DLTAEEE-LD-K-AM | 1683 |
CACNA1A | MFQRMEPPS------PTQ-------EG-GP>-<G-------QNALPS-TQLDPGGALM---AH | 2021 |
CACNA1B | MGPVSLFHP------LKATLE-QT-QPAVL>R<GARVFLR-QKS--S-TSLSNGGAIQ---NQ | 1930 |
CACNA1D | ---KNTTIA-L-QAGLRTL-H-DIGPE-IR>R<A-------ISC----DLQDDEP-EE----- | 1689 |
CACNA1E | MFQRMEPSS------LPQ-------EI-IA>-<N-------AKALPY-LQQDPVSGL------ | 1929 |
CACNA1F | ---PSTSSA-L-QAGLRSL-Q-DLGPE-MR>Q<A-------LTC----DTEEEEE-EG----- | 1646 |
CACNA1G | ------SLA------LTD-------DSLP->-<------DDMHTLLLSALESN-MQPH---PT | 2026 |
CACNA1H | LQIPLAVSS------PAR-------SGEPL>H<ALSPRGTARSPSLSRLLCRQ-EAVH---TD | 2022 |
CACNA1I | TACPPGRKD------SKG-------ELDP->-<---PEPMRVGDLGECFFPLS-STAVSPDPE | 1919 |
CACNA1S | ---KKDIVQ-I-QAGLRTI-EEEAAPE-IC>R<T-------VSG----DLAAEEE-LE----- | 1585 |
SCN10A | ----RAEEE---AASLPDEGF-VAFTA--->-<------------------------------ | 1899 |
SCN11A | ------------------NDL-----E--->-<------------------------------ | 1763 |
SCN1A | ----NKIKG--GANLLIKEDM-IIDRI--->-<------------------------------ | 1964 |
SCN2A | ----DKGKE--CDGTPIKEDT-LIDKL--->-<------------------------------ | 1954 |
SCN3A | ----EAIKG--RIDLPIKQDM-IIDKL--->-<------------------------------ | 1949 |
SCN4A | ----SHDGS--GDDAPEKEGL-LANTM-SK>M<Y---------------------GHE----- | 1783 |
SCN5A | ----QAGSGLSEEDAPEREGL-IAYVM--->-<------------------------------ | 1952 |
SCN7A | ----DGDR----DVHATKEGA-YFDKA--->-<------------------------------ | 1672 |
SCN8A | -----------------KKTT-SNKLE--->-<------------------------------ | 1926 |
SCN9A | ----DGDRD---DDLLNKKDM-AFDNV--->-<------------------------------ | 1926 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R1667Q | c.5000G>A | Putative Benign | SIFT: Polyphen: |