No paralogue variants have been mapped to residue 1730 for CACNA1C.
CACNA1C | -----RSAFPQTFT---T-------QRPLH>I<NKAGSS-QGDTESPSHEKLVDSTFTPSSY- | 1758 |
CACNA1A | EGQGRAASMPRLPA---------------->-<------------------------------ | 2099 |
CACNA1B | ESQGRAASMPRLAA---------------->-<------------------------------ | 2008 |
CACNA1D | -----RDSLQQTNT---T-------HRPLH>V<QRPSIPPASDTEKPLFPPAGNSVCHNHHNH | 1763 |
CACNA1E | AGSGRASSMPRLTV---------------->-<------------------------------ | 2006 |
CACNA1F | -----SGISVSLPVGDRL-------PDSLS>F<G---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-------QRPLQ>F<AEIE---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.I1730V | c.5188A>G | Putative Benign | SIFT: Polyphen: |