Paralogue Annotation for CACNA1C residue 275

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 275
Reference Amino Acid: V - Valine
Protein Domain: TM domain 1

Paralogue Variants mapped to CACNA1C residue 275

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN1A	T254I	Febrile seizures plus	Medium	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	LRLVSGVPSLQVVLNSIIKAMVPLLHIALL>V<LFVIIIYAIIGLELFMGKMHKTCYNQEGIA	305
CACNA1A	LKLVSGIPSLQVVLKSIMKAMIPLLQIGLL>L<FFAILIFAIIGLEFYMGKFHTTCFE-E-GT	261
CACNA1B	LKLVSGIPSLQVVLKSIMKAMVPLLQIGLL>L<FFAILMFAIIGLEFYMGKFHKACFP-N-ST	258
CACNA1D	LRLVSGVPSLQVVLNSIIKAMVPLLHIALL>V<LFVIIIYAIIGLELFIGKMHKTCFF-A-DS	306
CACNA1E	LKLVSGIPSLQIVLKSIMKAMVPLLQIGLL>L<FFAILMFAIIGLEFYSGKLHRACFM-N-NS	256
CACNA1F	LRLVSGVPSLHIVLNSIMKALVPLLHIALL>V<LFVIIIYAIIGLELFLGRMHKTCYF-L-GS	272
CACNA1G	LRAINRVPSMRILVTLLLDTLPMLGNVLLL>C<FFVFFIFGIVGVQLWAGLLRNRCFL-P-EN	246
CACNA1H	LRAINRVPSMRILVTLLLDTLPMLGNVLLL>C<FFVFFIFGIVGVQLWAGLLRNRCFL-D-SA	265
CACNA1I	LKAINRVPSMRILVNLLLDTLPMLGNVLLL>C<FFVFFIFGIIGVQLWAGLLRNRCFL-E-EN	244
CACNA1S	LRLVSGVPSLQVVLNSIFKAMLPLFHIALL>V<LFMVIIYAIIGLELFKGKMHKTCYF-I-GT	231
SCN10A	LKTVSVIPGLKVIVGALIHSVKKLADVTIL>T<IFCLSVFALVGLQLFKGNLKNKCVK-N---	279
SCN11A	LKAISVVSRLKVIVGALLRSVKKLVNVIIL>T<FFCLSIFALVGQQLFMGSLNLKCIS-R---	286
SCN1A	LKTISVIPGLKTIVGALIQSVKKLSDVMIL>T<VFCLSVFALIGLQLFMGNLRNKCIQ-WP-P	282
SCN2A	LKTISVIPGLKTIVGALIQSVKKLSDVMIL>T<VFCLSVFALIGLQLFMGNLRNKCLQ-WP-P	283
SCN3A	LKTISVIPGLKTIVGALIQSVKKLSDVMIL>T<VFCLSVFALIGLQLFMGNLRNKCLQ-WP-P	282
SCN4A	LKTITVIPGLKTIVGALIQSVKKLSDVMIL>T<VFCLSVFALVGLQLFMGNLRQKCVR-WP-P	285
SCN5A	LKTISVIPGLKTIVGALIQSVKKLADVMVL>T<VFCLSVFALIGLQLFMGNLRHKCVR-----	282
SCN7A	LKIIPLNQGLKSLVGVLIHCLKQLIGVIIL>T<LFFLSIFSLIGMGLFMGNLKHKCFR-WP-Q	272
SCN8A	LKTISVIPGLKTIVGALIQSVKKLSDVMIL>T<VFCLSVFALIGLQLFMGNLRNKCVV-WP--	285
SCN9A	LKTISVIPGLKTIVGALIQSVKKLSDVMIL>T<VFCLSVFALIGLQLFMGNLKHKCFR-NS--	279
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

There are currently no reported variants at residue 275 for CACNA1C.