Paralogue Annotation for CACNA1C residue 277

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 277
Reference Amino Acid: F - Phenylalanine
Protein Domain: TM domain 1

Paralogue Variants mapped to CACNA1C residue 277

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN8A	F260S	Epileptic encephalopathy	High	9	25568300, 26252990

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	LVSGVPSLQVVLNSIIKAMVPLLHIALLVL>F<VIIIYAIIGLELFMGKMHKTCYNQEGIAD-	306
CACNA1A	LVSGIPSLQVVLKSIMKAMIPLLQIGLLLF>F<AILIFAIIGLEFYMGKFHTTCFE-E-GTD-	262
CACNA1B	LVSGIPSLQVVLKSIMKAMVPLLQIGLLLF>F<AILMFAIIGLEFYMGKFHKACFP-N-STD-	259
CACNA1D	LVSGVPSLQVVLNSIIKAMVPLLHIALLVL>F<VIIIYAIIGLELFIGKMHKTCFF-A-DSD-	307
CACNA1E	LVSGIPSLQIVLKSIMKAMVPLLQIGLLLF>F<AILMFAIIGLEFYSGKLHRACFM-N-NSG-	257
CACNA1F	LVSGVPSLHIVLNSIMKALVPLLHIALLVL>F<VIIIYAIIGLELFLGRMHKTCYF-L-GSD-	273
CACNA1G	AINRVPSMRILVTLLLDTLPMLGNVLLLCF>F<VFFIFGIVGVQLWAGLLRNRCFL-P-ENFS	248
CACNA1H	AINRVPSMRILVTLLLDTLPMLGNVLLLCF>F<VFFIFGIVGVQLWAGLLRNRCFL-D-SAFV	267
CACNA1I	AINRVPSMRILVNLLLDTLPMLGNVLLLCF>F<VFFIFGIIGVQLWAGLLRNRCFL-E-ENFT	246
CACNA1S	LVSGVPSLQVVLNSIFKAMLPLFHIALLVL>F<MVIIYAIIGLELFKGKMHKTCYF-I-GTD-	232
SCN10A	TVSVIPGLKVIVGALIHSVKKLADVTILTI>F<CLSVFALVGLQLFKGNLKNKCVK-N-----	279
SCN11A	AISVVSRLKVIVGALLRSVKKLVNVIILTF>F<CLSIFALVGQQLFMGSLNLKCIS-R-----	286
SCN1A	TISVIPGLKTIVGALIQSVKKLSDVMILTV>F<CLSVFALIGLQLFMGNLRNKCIQ-WP-PTN	284
SCN2A	TISVIPGLKTIVGALIQSVKKLSDVMILTV>F<CLSVFALIGLQLFMGNLRNKCLQ-WP-PDN	285
SCN3A	TISVIPGLKTIVGALIQSVKKLSDVMILTV>F<CLSVFALIGLQLFMGNLRNKCLQ-WP-PSD	284
SCN4A	TITVIPGLKTIVGALIQSVKKLSDVMILTV>F<CLSVFALVGLQLFMGNLRQKCVR-WP-PPF	287
SCN5A	TISVIPGLKTIVGALIQSVKKLADVMVLTV>F<CLSVFALIGLQLFMGNLRHKCVR-------	282
SCN7A	IIPLNQGLKSLVGVLIHCLKQLIGVIILTL>F<FLSIFSLIGMGLFMGNLKHKCFR-WP-QEN	274
SCN8A	TISVIPGLKTIVGALIQSVKKLSDVMILTV>F<CLSVFALIGLQLFMGNLRNKCVV-WP----	285
SCN9A	TISVIPGLKTIVGALIQSVKKLSDVMILTV>F<CLSVFALIGLQLFMGNLKHKCFR-NS----	279
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

There are currently no reported variants at residue 277 for CACNA1C.