Paralogue Annotation for CACNA1C residue 1749

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1749
Reference Amino Acid: V - Valine
Protein Domain: C-terminus

Paralogue Variants mapped to CACNA1C residue 1749

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN5A	I1968S	Brugada syndrome	Low	1	16344400, 23414114, 24055113, 25637381

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	-----QRPLHINKAGSS-QGDTESPSHEKL>V<DSTFTPSSY-------SSTGSNANI--NNA	1770
CACNA1A	------------------------------>-<------------------------------
CACNA1B	------------------------------>-<------------------------------
CACNA1D	-----HRPLHVQRPSIPPASDTEKPLFPPA>G<NSVCHNHHNHNSIGKQVPTSTNANL--NNA	1781
CACNA1E	------------------------------>-<------------------------------
CACNA1F	-----PDSLSFG---P----------SDDD>R<G---------------TPTSSQPSV--PQA	1713
CACNA1G	----ADT-----------SYILQLPKDAPH>L<LQPHS-APT--------WGTIPKLPPPG--	2121
CACNA1H	----GGE-----------EAEASDPADEEV>S<HITSS-ACP--------WQPTAEPH-----	2118
CACNA1I	LRSPRVN-----------CTLLRQATGSDT>S<LDASP-SSS--------AGSL-QTTLED--	2034
CACNA1S	-----QRPLQFAEIE---MEEMESPVFLE->-<-D-FPQDPR-------TNPLARANT--NNA	1664
SCN10A	----------------------------ET>A<SATSF-P----------PSYESVT------	1925
SCN11A	----------------------------L->-<------------------CNGDLS------	1779
SCN1A	----------------------------DL>T<MSTAACP----------PSYDRVT------	1990
SCN2A	----------------------------DM>T<PSTTS-P----------PSYDSVT------	1979
SCN3A	----------------------------DG>S<SSTTS-P----------PSYDSVT------	1974
SCN4A	----------------------------EK>G<EAGDA-G----------PTMGLMP------	1809
SCN5A	----------------------------SS>I<SSTSF-P----------PSYDSVT------	1981
SCN7A	------------------------------>-<------------------------------
SCN8A	----------------------------ES>T<PSTAS-L----------PSYDSVT------	1951
SCN9A	----------------------------DA>T<SSTTS-P----------PSYDSVT------	1951
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

There are currently no reported variants at residue 1749 for CACNA1C.