Paralogue Annotation for CACNA1C residue 1897

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1897
Reference Amino Acid: A - Alanine
Protein Domain: C-terminus

Paralogue Variants mapped to CACNA1C residue 1897

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN5A	L1988R	Long QT syndrome	Low	2	24363352

To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in CACNA1C.

CACNA1C	LPEEDKRDIRQSPKRGFLRSA-SL-GR-R->A<SFHLECLKRQKDRGGDIS-----Q------	1916
CACNA1A	-------GTDLSMTTQSGDLP------SK->E<RDQERGRPKDR-------------------	2206
CACNA1B	-------SSAVGPGLPPGEGPTGC-RRER->E<RRQERGRSQERRQPSSSSS----EKQRFYS	2130
CACNA1D	DDSPVCYDSRRSPRRRLLPPT-PASHR-R->S<SFNFECLRRQSSQEEVPSSPIFPH------	1965
CACNA1E	-------KSDT----------------HR->S<GGRERGRSKERKHLLSPDV----SRCN--S	2102
CACNA1F	HRAQRYMDGHLVPRRRLLPPT-PA-GR-K->P<SFTIQCLQRQGSCEDLPIPGTY--------	1823
CACNA1G	SR------SHSKISKHMTPPA-PCPGP-E->P<NWGKGPPETRSSLELDTE------------	2220
CACNA1H	--------------------G-PEASP-V->A<GGE---------------------------	2129
CACNA1I	-------------RRALGPPA-PAPGP-R->A<GLS---------------------------	2060
CACNA1S	---------PATRGRALGQPCRVL-GP-H->S<KPCVEMLKG---------------------	1724
SCN10A	----------------------RG-LSDR->V<NMRT--------------------------	1936
SCN11A	----------------------SF-GVAK->-<------------------------------	1785
SCN1A	----------------------KP-IVEK->H<E-----------------------------	1998
SCN2A	----------------------KP-EKEK->F<E-----------------------------	1987
SCN3A	----------------------KP-DKEK->F<E-----------------------------	1982
SCN4A	----------------------IS-PSDTA>W<P-----------------------------	1818
SCN5A	----------------------RA-TSDN->L<QVRG--------------------------	1992
SCN7A	----------------------------K->-<------------------------------	1675
SCN8A	----------------------KP-EKEK->Q<QRAE--------------------------	1962
SCN9A	----------------------KP-DKEK->Y<E-----------------------------	1959
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

There are currently no reported variants at residue 1897 for CACNA1C.