No paralogue variants have been mapped to residue 1720 for CACNA1C.
CACNA1C | AGGLFGNHV-SYYQSDG--------RSAFP>Q<TFT---T-------QRPLHINKAGSS-QGD | 1739 |
CACNA1A | EMREMGRDG-YSDSEHYLPMEGQGRAASMP>R<LPA--------------------------- | 2099 |
CACNA1B | DVQMQSITRRGPDGEPQPGLESQGRAASMP>R<LAA--------------------------- | 2008 |
CACNA1D | NGALLGNHV-NHVNSDR--------RDSLQ>Q<TNT---T-------HRPLHVQRPSIPPASD | 1743 |
CACNA1E | KSVQPSNHG-IYLPSDTQEHAGSGRASSMP>R<LTV--------------------------- | 2006 |
CACNA1F | KATMVSQPS-AR---RG--------SGISV>S<LPVGDRL-------PDSLSFG---P----- | 1695 |
CACNA1G | PKA--------------Q----SGSVLSVH>S<QP-----------ADT-----------SYI | 2092 |
CACNA1H | RT--------------RK----HTFGQRCV>S<SRP---AAP----GGE-----------EAE | 2092 |
CACNA1I | FHPAVSASQ-KGPEKGTG----TGTLPKIA>L<QGS---WASLRSPRVN-----------CTL | 2006 |
CACNA1S | TGGLFGQVD-NFL--ER--------TNSLP>P<VMA---N-------QRPLQFAEIE---MEE | 1637 |
SCN10A | DKS--------------------------->-<------------------------------ | 1909 |
SCN11A | LQT--------------------------->-<------------------------------ | 1772 |
SCN1A | EKT--------------------------->-<------------------------------ | 1973 |
SCN2A | EKT--------------------------->-<------------------------------ | 1963 |
SCN3A | EKT--------------------------->-<------------------------------ | 1958 |
SCN4A | SPE--------------------------->-<------------------------------ | 1793 |
SCN5A | PSS--------------------------->-<------------------------------ | 1965 |
SCN7A | ------------------------------>-<------------------------------ | |
SCN8A | EKK--------------------------->-<------------------------------ | 1935 |
SCN9A | EKT--------------------------->-<------------------------------ | 1935 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Q1720H | c.5160G>T | Putative Benign | SIFT: Polyphen: | ||
p.Q1720H | c.5160G>C | Putative Benign | SIFT: Polyphen: |