Paralogue Annotation for CACNA1C residue 568

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 568
Reference Amino Acid: T - Threonine
Protein Domain: TM domain 2

Paralogue Variants mapped to CACNA1C residue 568

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN1A	T812R	Myoclonic epilepsy of infancy	High	9	17054684, 19585586
SCN1A	T812I	Dravet syndrome B ?	High	9	21248271

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	TLTIASEHYNQPNWLTEVQDTANKALLALF>T<AEMLLKMYSLGLQAYFVSLFNRFDCFVVCG	598
CACNA1A	TLCVAIVHYNQPEWLSDFLYYAEFIFLGLF>M<SEMFIKMYGLGTRPYFHSSFNCFDCGVIIG	561
CACNA1B	TLCVAMVHYNQPRRLTTTLYFAEFVFLGLF>L<TEMSLKMYGLGPRSYFRSSFNCFDFGVIVG	557
CACNA1D	TLTISSEHYNQPDWLTQIQDIANKVLLALF>T<CEMLVKMYSLGLQAYFVSLFNRFDCFVVCG	617
CACNA1E	TACVAIVHHNQPQWLTHLLYYAEFLFLGLF>L<LEMSLKMYGMGPRLYFHSSFNCFDFGVTVG	550
CACNA1F	TLTIASEHHGQPVWLTQIQEYANKVLLCLF>T<VEMLLKLYGLGPSAYVSSFFNRFDCFVVCG	603
CACNA1G	TLSMGIEYHEQPEELTNALEISNIVFTSLF>A<LEMLLKLLVYGPFGYIKNPYNIFDGVIVVI	817
CACNA1H	TLSMGVEYHEQPEELTNALEISNIVFTSMF>A<LEMLLKLLACGPLGYIRNPYNIFDGIIVVI	867
CACNA1I	TVSMGIEHHEQPEELTNILEICNVVFTSMF>A<LEMILKLAAFGLFDYLRNPYNIFDSIIVII	714
CACNA1S	TLSIASEHHNQPLWLTRLQDIANRVLLSLF>T<TEMLMKMYGLGLRQYFMSIFNRFDCFVVCS	506
SCN10A	TIFMAMEHHGMSPTFEAMLQIGNIVFTIFF>T<AEMVFKIIAFDPYYYFQKKWNIFDCIIVTV	739
SCN11A	TVFLAMEHHKMEASFEKMLNIGNLVFTSIF>I<AEMCLKIIALDPYHYFRRGWNIFDSIVALL	651
SCN1A	TLFMAMEHYPMTDHFNNVLTVGNLVFTGIF>T<AEMFLKIIAMDPYYYFQEGWNIFDGFIVTL	842
SCN2A	TLFMAMEHYPMTEQFSSVLSVGNLVFTGIF>T<AEMFLKIIAMDPYYYFQEGWNIFDGFIVSL	833
SCN3A	TLFMAMEHYPMTEQFSSVLTVGNLVFTGIF>T<AEMVLKIIAMDPYYYFQEGWNIFDGIIVSL	834
SCN4A	TLFMAMEHYPMTEHFDNVLTVGNLVFTGIF>T<AEMVLKLIAMDPYEYFQQGWNIFDSIIVTL	652
SCN5A	TLFMALEHYNMTSEFEEMLQVGNLVFTGIF>T<AEMTFKIIALDPYYYFQQGWNIFDSIIVIL	791
SCN7A	VCFLTLEHYPMSKQTNTLLNIGNLVFIGIF>T<AEMIFKIIAMHPYGYFQVGWNIFDSMIVFH	579
SCN8A	TLFMAMEHHPMTPQFEHVLAVGNLVFTGIF>T<AEMFLKLIAMDPYYYFQEGWNIFDGFIVSL	827
SCN9A	TLFMAMEHHPMTEEFKNVLAIGNLVFTGIF>A<AEMVLKLIAMDPYEYFQVGWNIFDSLIVTL	807
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.T568M	c.1703C>T	Putative Benign			SIFT: Polyphen: