No paralogue variants have been mapped to residue 1722 for CACNA1C.
CACNA1C | GLFGNHV-SYYQSDG--------RSAFPQT>F<T---T-------QRPLHINKAGSS-QGDTE | 1741 |
CACNA1A | REMGRDG-YSDSEHYLPMEGQGRAASMPRL>P<A----------------------------- | 2099 |
CACNA1B | QMQSITRRGPDGEPQPGLESQGRAASMPRL>A<A----------------------------- | 2008 |
CACNA1D | ALLGNHV-NHVNSDR--------RDSLQQT>N<T---T-------HRPLHVQRPSIPPASDTE | 1745 |
CACNA1E | VQPSNHG-IYLPSDTQEHAGSGRASSMPRL>T<V----------------------------- | 2006 |
CACNA1F | TMVSQPS-AR---RG--------SGISVSL>P<VGDRL-------PDSLSFG---P------- | 1695 |
CACNA1G | A--------------Q----SGSVLSVHSQ>P<-----------ADT-----------SYILQ | 2094 |
CACNA1H | --------------RK----HTFGQRCVSS>R<P---AAP----GGE-----------EAEAS | 2094 |
CACNA1I | PAVSASQ-KGPEKGTG----TGTLPKIALQ>G<S---WASLRSPRVN-----------CTLLR | 2008 |
CACNA1S | GLFGQVD-NFL--ER--------TNSLPPV>M<A---N-------QRPLQFAEIE---MEEME | 1639 |
SCN10A | S----------------------------->-<------------------------------ | 1909 |
SCN11A | T----------------------------->-<------------------------------ | 1772 |
SCN1A | T----------------------------->-<------------------------------ | 1973 |
SCN2A | T----------------------------->-<------------------------------ | 1963 |
SCN3A | T----------------------------->-<------------------------------ | 1958 |
SCN4A | E----------------------------->-<------------------------------ | 1793 |
SCN5A | S----------------------------->-<------------------------------ | 1965 |
SCN7A | ------------------------------>-<------------------------------ | |
SCN8A | K----------------------------->-<------------------------------ | 1935 |
SCN9A | T----------------------------->-<------------------------------ | 1935 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.F1722V | c.5164T>G | Putative Benign | SIFT: Polyphen: |