Paralogue Annotation for CACNA1C residue 565

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 565
Reference Amino Acid: A - Alanine
Protein Domain: TM domain 2

Paralogue Variants mapped to CACNA1C residue 565

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN5A	G758E	Brugada syndrome	Medium	9	20129283

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	FLNTLTIASEHYNQPNWLTEVQDTANKALL>A<LFTAEMLLKMYSLGLQAYFVSLFNRFDCFV	595
CACNA1A	ALNTLCVAIVHYNQPEWLSDFLYYAEFIFL>G<LFMSEMFIKMYGLGTRPYFHSSFNCFDCGV	558
CACNA1B	ALNTLCVAMVHYNQPRRLTTTLYFAEFVFL>G<LFLTEMSLKMYGLGPRSYFRSSFNCFDFGV	554
CACNA1D	FLNTLTISSEHYNQPDWLTQIQDIANKVLL>A<LFTCEMLVKMYSLGLQAYFVSLFNRFDCFV	614
CACNA1E	ALNTACVAIVHHNQPQWLTHLLYYAEFLFL>G<LFLLEMSLKMYGMGPRLYFHSSFNCFDFGV	547
CACNA1F	FLNTLTIASEHHGQPVWLTQIQEYANKVLL>C<LFTVEMLLKLYGLGPSAYVSSFFNRFDCFV	600
CACNA1G	LVNTLSMGIEYHEQPEELTNALEISNIVFT>S<LFALEMLLKLLVYGPFGYIKNPYNIFDGVI	814
CACNA1H	LVNTLSMGVEYHEQPEELTNALEISNIVFT>S<MFALEMLLKLLACGPLGYIRNPYNIFDGII	864
CACNA1I	LVNTVSMGIEHHEQPEELTNILEICNVVFT>S<MFALEMILKLAAFGLFDYLRNPYNIFDSII	711
CACNA1S	ALNTLSIASEHHNQPLWLTRLQDIANRVLL>S<LFTTEMLMKMYGLGLRQYFMSIFNRFDCFV	503
SCN10A	VVNTIFMAMEHHGMSPTFEAMLQIGNIVFT>I<FFTAEMVFKIIAFDPYYYFQKKWNIFDCII	736
SCN11A	IINTVFLAMEHHKMEASFEKMLNIGNLVFT>S<IFIAEMCLKIIALDPYHYFRRGWNIFDSIV	648
SCN1A	VLNTLFMAMEHYPMTDHFNNVLTVGNLVFT>G<IFTAEMFLKIIAMDPYYYFQEGWNIFDGFI	839
SCN2A	VLNTLFMAMEHYPMTEQFSSVLSVGNLVFT>G<IFTAEMFLKIIAMDPYYYFQEGWNIFDGFI	830
SCN3A	VLNTLFMAMEHYPMTEQFSSVLTVGNLVFT>G<IFTAEMVLKIIAMDPYYYFQEGWNIFDGII	831
SCN4A	VLNTLFMAMEHYPMTEHFDNVLTVGNLVFT>G<IFTAEMVLKLIAMDPYEYFQQGWNIFDSII	649
SCN5A	VLNTLFMALEHYNMTSEFEEMLQVGNLVFT>G<IFTAEMTFKIIALDPYYYFQQGWNIFDSII	788
SCN7A	ILNVCFLTLEHYPMSKQTNTLLNIGNLVFI>G<IFTAEMIFKIIAMHPYGYFQVGWNIFDSMI	576
SCN8A	VLNTLFMAMEHHPMTPQFEHVLAVGNLVFT>G<IFTAEMFLKLIAMDPYYYFQEGWNIFDGFI	824
SCN9A	VLNTLFMAMEHHPMTEEFKNVLAIGNLVFT>G<IFAAEMVLKLIAMDPYEYFQVGWNIFDSLI	804
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A565T	c.1693G>A	Putative Benign			SIFT: Polyphen: