No paralogue variants have been mapped to residue 474 for CACNA1C.
CACNA1C | ------------------E----------S>V<NTENVAG-G-D----IEGEN-CG------- | 490 |
CACNA1A | ------------------D----------L>L<NPEEAED-QLA----DIA-S-VG------- | 450 |
CACNA1B | ------------------D----------L>I<HAEEGED-RFA----DLC-A-VG------- | 446 |
CACNA1D | ------------------E----------S>V<NTENVSG-EGE----NRG-C-CGSLWCWWR | 497 |
CACNA1E | ------------------E----------A>M<TRDSSDE-HCV----DIS-S-VG------- | 439 |
CACNA1F | ------------------T----------R>S<-THSTSSHASL----P-A-SDTGSMTETQG | 483 |
CACNA1G | QS-----SC--KISSPCLK----------A>D<SGACGPD-SCP----YCA-R-AG-----AG | 676 |
CACNA1H | PGHLSGLSV--PCPLPSPP----------A>G<TLTCELK-SCP----YCT-R-AL-----ED | 709 |
CACNA1I | ------------------------------>-<----DPA-SCP----CCQ-H-ED-----GR | 562 |
CACNA1S | ------------------E----------S>L<Y-EI-------------------------- | 401 |
SCN10A | ---------------GAVDVSAFD---AGQ>K<KTFLSAE-YLDEPFRAQR-A-MSVVSIITS | 619 |
SCN11A | -------------------------KRLSQ>N<LSLDHFD-EHGDPLQRQR-A-LSAVSILTI | 531 |
SCN1A | ------VIIDKPATDDNGTTTETEMRKRRS>S<SFHVSMD-FLEDPSQRQR-A-MSIASILTN | 722 |
SCN2A | -----------------GTTTETEIRKRRS>S<SYHVSMD-LLEDPTSRQR-A-MSIASILTN | 713 |
SCN3A | -----------------GTTTETEVRKRRL>S<SYQISME-MLEDSSGRQR-A-VSIASILTN | 714 |
SCN4A | ------------------------------>-<--------E---KGAPRQ-S-SSGDSGISD | 532 |
SCN5A | ------VMLEHPP--DTTTPSEEPGGPQML>T<SQAPCVD-GFEEPGARQR-A-LSAVSVLTS | 671 |
SCN7A | -------------------TIQIEMKKRSP>I<STDTSLD-VLEDATLRHK------------ | 461 |
SCN8A | -----------------A-TTEVEIKKKGP>G<SLLVSMD-QLASYGRKDR-I-NSIMSVVTN | 706 |
SCN9A | ------G-----------TTNQIH-KKRRC>S<SYLLSED-MLNDPNLRQR-A-MSRASILTN | 687 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V474F | c.1420G>T | Putative Benign | SIFT: Polyphen: | ||
p.V474I | c.1420G>A | Putative Benign | SIFT: Polyphen: |