No paralogue variants have been mapped to residue 1729 for CACNA1C.
CACNA1C | ------RSAFPQTFT---T-------QRPL>H<INKAGSS-QGDTESPSHEKLVDSTFTPSSY | 1758 |
CACNA1A | MEGQGRAASMPRLPA--------------->-<------------------------------ | 2099 |
CACNA1B | LESQGRAASMPRLAA--------------->-<------------------------------ | 2008 |
CACNA1D | ------RDSLQQTNT---T-------HRPL>H<VQRPSIPPASDTEKPLFPPAGNSVCHNHHN | 1762 |
CACNA1E | HAGSGRASSMPRLTV--------------->-<------------------------------ | 2006 |
CACNA1F | ------SGISVSLPVGDRL-------PDSL>S<FG---P----------SDDDRG-------- | 1701 |
CACNA1G | ---SGSVLSVHSQP-----------ADT-->-<--------SYILQLPKDAPHLLQPHS-APT | 2110 |
CACNA1H | ---HTFGQRCVSSRP---AAP----GGE-->-<--------EAEASDPADEEVSHITSS-ACP | 2110 |
CACNA1I | ---TGTLPKIALQGS---WASLRSPRVN-->-<--------CTLLRQATGSDTSLDASP-SSS | 2024 |
CACNA1S | ------TNSLPPVMA---N-------QRPL>Q<FAEIE---MEEMESPVFLE---D-FPQDPR | 1652 |
SCN10A | ------------------------------>-<------------------ETASATSF-P-- | 1918 |
SCN11A | ------------------------------>-<------------------L----------- | 1773 |
SCN1A | ------------------------------>-<------------------DLTMSTAACP-- | 1983 |
SCN2A | ------------------------------>-<------------------DMTPSTTS-P-- | 1972 |
SCN3A | ------------------------------>-<------------------DGSSSTTS-P-- | 1967 |
SCN4A | ------------------------------>-<------------------EKGEAGDA-G-- | 1802 |
SCN5A | ------------------------------>-<------------------SSISSTSF-P-- | 1974 |
SCN7A | ------------------------------>-<------------------------------ | |
SCN8A | ------------------------------>-<------------------ESTPSTAS-L-- | 1944 |
SCN9A | ------------------------------>-<------------------DATSSTTS-P-- | 1944 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.H1729R | c.5186A>G | Putative Benign | SIFT: Polyphen: | ||
p.H1729Q | c.5187C>G | Putative Benign | SIFT: Polyphen: |