No paralogue variants have been mapped to residue 1889 for CACNA1C.
CACNA1C | RQL--------TLPEEDKRDIRQSPKRGFL>R<SA-SL-GR-R-ASFHLECLKRQKDRGGDIS | 1915 |
CACNA1A | DTGL---------------GTDLSMTTQSG>D<LP------SK-ERDQERGRPKDR------- | 2206 |
CACNA1B | DGAP---------------SSAVGPGLPPG>E<GPTGC-RRER-ERRQERGRSQERRQPSSSS | 2122 |
CACNA1D | RGYHHPQGFLEDDDSPVCYDSRRSPRRRLL>P<PT-PASHR-R-SSFNFECLRRQSSQEEVPS | 1959 |
CACNA1E | DSGH---------------KSDT------->-<--------HR-SGGRERGRSKERKHLLSPD | 2096 |
CACNA1F | -LP--------PHRAQRYMDGHLVPRRRLL>P<PT-PA-GR-K-PSFTIQCLQRQGSCEDLPI | 1819 |
CACNA1G | AQQ--------HSR------SHSKISKHMT>P<PA-PCPGP-E-PNWGKGPPETRSSLELDTE | 2220 |
CACNA1H | ------------------------------>-<-G-PEASP-V-AGGE--------------- | 2129 |
CACNA1I | -------------------------RRALG>P<PA-PAPGP-R-AGLS--------------- | 2060 |
CACNA1S | ---------------------PATRGRALG>Q<PCRVL-GP-H-SKPCVEMLKG--------- | 1724 |
SCN10A | ------------------------------>-<---RG-LSDR-VNMRT-------------- | 1936 |
SCN11A | ------------------------------>-<---SF-GVAK-------------------- | 1785 |
SCN1A | ------------------------------>-<---KP-IVEK-HE----------------- | 1998 |
SCN2A | ------------------------------>-<---KP-EKEK-FE----------------- | 1987 |
SCN3A | ------------------------------>-<---KP-DKEK-FE----------------- | 1982 |
SCN4A | ------------------------------>-<---IS-PSDTAWP----------------- | 1818 |
SCN5A | ------------------------------>-<---RA-TSDN-LQVRG-------------- | 1992 |
SCN7A | ------------------------------>-<---------K-------------------- | 1675 |
SCN8A | ------------------------------>-<---KP-EKEK-QQRAE-------------- | 1962 |
SCN9A | ------------------------------>-<---KP-DKEK-YE----------------- | 1959 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R1889C | c.5665C>T | Conflict | rs185788586 | SIFT: deleterious Polyphen: benign | |
Reports | Other Cardiac Phenotype | Post-mortem genetic analysis in juvenile cases of sudden cardiac death. Forensic Sci Int. 2014 245C:30-37. doi: 10.1016/j.forsciint.2014.10.004. 25447171 | |||
Other Cardiac Phenotype | Next generation sequencing for molecular confirmation of hereditary sudden cardiac death syndromes. Arch Cardiol Mex. 2015 85(1):68-72. doi: 10.1016/j.acmx.2014.12.006. 25661095 | ||||
p.R1889H | c.5666G>A | Putative Benign | SIFT: tolerated Polyphen: benign |