No paralogue variants have been mapped to residue 1726 for CACNA1C.
CACNA1C | G--------RSAFPQTFT---T-------Q>R<PLHINKAGSS-QGDTESPSHEKLVDSTFTP | 1755 |
CACNA1A | YLPMEGQGRAASMPRLPA------------>-<------------------------------ | 2099 |
CACNA1B | QPGLESQGRAASMPRLAA------------>-<------------------------------ | 2008 |
CACNA1D | R--------RDSLQQTNT---T-------H>R<PLHVQRPSIPPASDTEKPLFPPAGNSVCHN | 1759 |
CACNA1E | TQEHAGSGRASSMPRLTV------------>-<------------------------------ | 2006 |
CACNA1F | G--------SGISVSLPVGDRL-------P>D<SLSFG---P----------SDDDRG----- | 1701 |
CACNA1G | -Q----SGSVLSVHSQP-----------AD>T<-----------SYILQLPKDAPHLLQPHS- | 2107 |
CACNA1H | RK----HTFGQRCVSSRP---AAP----GG>E<-----------EAEASDPADEEVSHITSS- | 2107 |
CACNA1I | TG----TGTLPKIALQGS---WASLRSPRV>N<-----------CTLLRQATGSDTSLDASP- | 2021 |
CACNA1S | R--------TNSLPPVMA---N-------Q>R<PLQFAEIE---MEEMESPVFLE---D-FPQ | 1649 |
SCN10A | ------------------------------>-<---------------------ETASATSF- | 1917 |
SCN11A | ------------------------------>-<---------------------L-------- | 1773 |
SCN1A | ------------------------------>-<---------------------DLTMSTAAC | 1982 |
SCN2A | ------------------------------>-<---------------------DMTPSTTS- | 1971 |
SCN3A | ------------------------------>-<---------------------DGSSSTTS- | 1966 |
SCN4A | ------------------------------>-<---------------------EKGEAGDA- | 1801 |
SCN5A | ------------------------------>-<---------------------SSISSTSF- | 1973 |
SCN7A | ------------------------------>-<------------------------------ | |
SCN8A | ------------------------------>-<---------------------ESTPSTAS- | 1943 |
SCN9A | ------------------------------>-<---------------------DATSSTTS- | 1943 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R1726H | c.5177G>A | Putative Benign | rs377564636 | SIFT: deleterious Polyphen: probably damaging |