Paralogue Annotation for CACNA1C residue 790

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 790
Reference Amino Acid: L - Leucine
Protein Domain: Interdomain Linker II-III

Paralogue Variants mapped to CACNA1C residue 790

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN5A	C981F	Long QT syndrome	Medium	3	19716085
SCN1A	I1034T	Autism ?	Medium	3	12610651

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	-------------------------EKKQE>L<VE---K----P------A-------V----	796
CACNA1A	ENRN-NNTNKSRAAEPTVDQRLGQQ-RAED>-<-FLRKQARYHDRARDPSGSAGLDARRPWA-	885
CACNA1B	RDGA-RGPVGGKARPEAAEAPEGVD-PP-->-<---RRHHRHRDKDKTPAAG---D----QDR	869
CACNA1D	-------------------------ENKKN>-<-N---K----P------E-------V----	813
CACNA1E	LYRR-PRAIEGLAL-----GLALEKFEEER>-<-ISRGGSLKGDGGDRSSAL---DNQRTP-L	874
CACNA1F	-------------------------V---->-<----------P------G-------V----	793
CACNA1G	RTS-SSGSAEPGA----------------->-<--------AHEMKSPPSARSSPH----S--	1095
CACNA1H	RRGSSSS-GDP-P----------------->-<--------LGDQKPPASLRSSPC----A--	1130
CACNA1I	RKSSVMS-LGR-M----------------->-<--------SYDQRSLSSSRSSYY----G--	976
CACNA1S	-------------------------EEKST>-<-M---A----K------K-------L----	705
SCN10A	--ARG--SSGGLQ----------------->-<--------A---------------------	976
SCN11A	KRGSE--TQEELG----------------->-<--------I---------------------	899
SCN1A	KDVNG--TTSGIG-----------------><--------T---------------------	1088
SCN2A	KDGNG--TTSGI------------------>-<------------------------------	1078
SCN3A	RDGNG--TTSGVG----------------->-<--------T---------------------	1076
SCN4A	KKDNH--ILNHMG----------------->-<------------------------------	898
SCN5A	RFEEG--EQPGQG-----------------><--------T---------------------	1038
SCN7A	KDKEK--S-S-------------------->-<------------------------------	812
SCN8A	KNGNG--TTSGI------------------>-<------------------------------	1070
SCN9A	KEKD---KISGF------------------>-<------------------------------	1051
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

There are currently no reported variants at residue 790 for CACNA1C.