Paralogue Annotation for CACNA1C residue 391

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 391
Reference Amino Acid: I - Isoleucine
Protein Domain: TM domain 1

Paralogue Variants mapped to CACNA1C residue 391

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN1A	L409W	Myoclonic epilepsy of infancy	Medium	9	23195492

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	TMEGWTDVLYWVNDAVGRDWPWIYFVTLII>I<GSFFVLNLVLGVLSGEFSKEREKAKARGDF	421
CACNA1A	TMEGWTDLLYNSNDASGNTWNWLYFIPLII>I<GSFFMLNLVLGVLSGEFAKERERVENRRAF	376
CACNA1B	TMEGWTDILYNTNDAAGNTWNWLYFIPLII>I<GSFFMLNLVLGVLSGEFAKERERVENRRAF	372
CACNA1D	TMEGWTDVLYWVNDAIGWEWPWVYFVSLII>L<GSFFVLNLVLGVLSGEFSKEREKAKARGDF	422
CACNA1E	TMEGWTTVLYNTNDALGATWNWLYFIPLII>I<GSFFVLNLVLGVLSGEFAKERERVENRRAF	367
CACNA1F	TMEGWTDVLYWMQDAMGYELPWVYFVSLVI>F<GSFFVLNLVLGVLSGEFSKEREKAKARGDF	388
CACNA1G	TLEGWVDIMYFVMDAHSF-YNFIYFILLII>V<GSFFMINLCLVVIATQFSETKQRESQLMRE	411
CACNA1H	TLEGWVDIMYYVMDAHSF-YNFIYFILLII>V<GSFFMINLCLVVIATQFSETKQRESQLMRE	435
CACNA1I	TLEGWVEIMYYVMDAHSF-YNFIYFILLII>V<GSFFMINLCLVVIATQFSETKQREHRLMLE	414
CACNA1S	TMEGWTDVLYWVNDAIGNEWPWIYFVTLIL>L<GSFFILNLVLGVLSGEFTKEREKAKSRGTF	350
SCN10A	TQDSWERLYQQTLRTSGKIY-MIFFVLVIF>L<GSFYLVNLILAVVTMAYEEQNQATTDEIEA	413
SCN11A	TQDSWEKLYQQTLRTTGLYS-VFFFIVVIF>L<GSFYLINLTLAVVTMAYEEQNKNVAAEIEA	416
SCN1A	TQDFWENLYQLTLRAAGKTY-MIFFVLVIF>L<GSFYLINLILAVVAMAYEEQNQATLEEAEQ	439
SCN2A	TQDFWENLYQLTLRAAGKTY-MIFFVLVIF>L<GSFYLINLILAVVAMAYEEQNQATLEEAEQ	441
SCN3A	TQDYWENLYQLTLRAAGKTY-MIFFVLVIF>L<GSFYLVNLILAVVAMAYEEQNQATLEEAEQ	440
SCN4A	TQDYWENLFQLTLRAAGKTY-MIFFVVIIF>L<GSFYLINLILAVVAMAYAEQNEATLAEDKE	463
SCN5A	TQDCWERLYQQTLRSAGKIY-MIFFMLVIF>L<GSFYLVNLILAVVAMAYEEQNQATIAETEE	429
SCN7A	AQDYPEVLYHQILYASGKVY-MIFFVVVSF>L<FSFYMASLFLGILAMAYEEEKQRVGEISKK	410
SCN8A	TQDYWENLYQLTLRAAGKTY-MIFFVLVIF>V<GSFYLVNLILAVVAMAYEEQNQATLEEAEQ	427
SCN9A	TQDYWENLYQQTLRAAGKTY-MIFFVVVIF>L<GSFYLINLILAVVAMAYEEQNQANIEEAKQ	418
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.I391L	c.1171A>T	Putative Benign		rs1051356	SIFT: tolerated Polyphen: benign