No paralogue variants have been mapped to residue 1880 for CACNA1C.
CACNA1C | MLSYQDDENRQL--------TLPEEDKRDI>R<QSPKRGFLRSA-SL-GR-R-ASFHLECLKR | 1906 |
CACNA1A | GRYTDV---DTGL---------------GT>D<LSMTTQSGDLP------SK-ERDQERGRPK | 2204 |
CACNA1B | SLSADM---DGAP---------------SS>A<VGPGLPPGEGPTGC-RRER-ERRQERGRSQ | 2113 |
CACNA1D | GRNIDSERPRGYHHPQGFLEDDDSPVCYDS>R<RSPRRRLLPPT-PASHR-R-SSFNFECLRR | 1950 |
CACNA1E | AHRLNS---DSGH---------------KS>D<T----------------HR-SGGRERGRSK | 2087 |
CACNA1F | ----------LP--------PHRAQRYMDG>H<LVPRRRLLPPT-PA-GR-K-PSFTIQCLQR | 1810 |
CACNA1G | ---------AQQ--------HSR------S>H<SKISKHMTPPA-PCPGP-E-PNWGKGPPET | 2211 |
CACNA1H | ------------------------------>-<----------G-PEASP-V-AGGE------ | 2129 |
CACNA1I | ------------------------------>-<---RRALGPPA-PAPGP-R-AGLS------ | 2060 |
CACNA1S | PEETET------------------------>P<ATRGRALGQPCRVL-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.R1880Q | c.5639G>A | Inherited Arrhythmia | BrS | rs182208896 | SIFT: tolerated Polyphen: |
Reports | Inherited Arrhythmia | BrS | Mutations in the cardiac L-type calcium channel associated with inherited J-wave syndromes and sudden cardiac death. Heart Rhythm. 2010 7(12):1872-82. 20817017 | ||
Inherited Arrhythmia | BrS | High prevalence of genetic variants previously associated with Brugada syndrome in new exome data. Clin Genet. 2013 23414114 | |||
Inherited Arrhythmia | BrS | Actionable, pathogenic incidental findings in 1,000 participants' exomes. Am J Hum Genet. 2013 93(4):631-40. doi: 10.1016/j.ajhg.2013.08.006. 24055113 | |||
Unknown | Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Res. 2015 25(3):305-15. doi: 10.1101/gr.183483.114. 25637381 | ||||
p.R1880W | c.5638C>T | Putative Benign | SIFT: Polyphen: |