No paralogue variants have been mapped to residue 1673 for CACNA1C.
CACNA1C | TL-H-DIGPE-IRRA-------ISG----D>L<TAEEE-LD-K-AMKEAVSA----------- | 1689 |
CACNA1A | Q-------EG-GP-G-------QNALPS-T>Q<LDPGGALM---AHESGLKESPSWVTQRAQE | 2038 |
CACNA1B | ATLE-QT-QPAVLRGARVFLR-QKS--S-T>S<LSNGGAIQ---NQESGIKESVSWGTQRTQD | 1947 |
CACNA1D | TL-H-DIGPE-IRRA-------ISC----D>L<QDDEP-EE-----TKR-------------- | 1692 |
CACNA1E | Q-------EI-IA-N-------AKALPY-L>Q<QDPVSGL-------SGRSGYPSMSPLSPQD | 1945 |
CACNA1F | SL-Q-DLGPE-MRQA-------LTC----D>T<EEEEE-EG-----QEGVEE----------- | 1652 |
CACNA1G | D-------DSLP--------DDMHTLLLSA>L<ESN-MQPH---PTELPGPDLLTVRKSGVSR | 2043 |
CACNA1H | R-------SGEPLHALSPRGTARSPSLSRL>L<CRQ-EAVH---TDSLEGKIDSPRDTLDPAE | 2039 |
CACNA1I | G-------ELDP-----PEPMRVGDLGECF>F<PLS-STAVSPDPENFLCEMEEIPFNPVRSW | 1936 |
CACNA1S | TI-EEEAAPE-ICRT-------VSG----D>L<AAEEE-LE-----RAMVEA----------- | 1591 |
SCN10A | DEGF-VAFTA-------------------->-<-----------------NE----------- | 1901 |
SCN11A | -NDL-----E-------------------->-<-----------------NG----------- | 1765 |
SCN1A | KEDM-IIDRI-------------------->-<-----------------NE----------- | 1966 |
SCN2A | KEDT-LIDKL-------------------->-<-----------------NE----------- | 1956 |
SCN3A | KQDM-IIDKL-------------------->-<-----------------NG----------- | 1951 |
SCN4A | KEGL-LANTM-SKMY--------------->-<-----GHE---------NG----------- | 1785 |
SCN5A | REGL-IAYVM-------------------->-<-----------------SE----------- | 1954 |
SCN7A | KEGA-YFDKA-------------------->-<-----------------KE----------- | 1674 |
SCN8A | KKTT-SNKLE-------------------->-<-----------------NG----------- | 1928 |
SCN9A | KKDM-AFDNV-------------------->-<-----------------NE----------- | 1928 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L1673V | c.5017C>G | Putative Benign | SIFT: Polyphen: |