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

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AL409WMyoclonic epilepsy of infancyMedium9 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.



CACNA1CTMEGWTDVLYWVNDAVGRDWPWIYFVTLII>I<GSFFVLNLVLGVLSGEFSKEREKAKARGDF421
CACNA1ATMEGWTDLLYNSNDASGNTWNWLYFIPLII>I<GSFFMLNLVLGVLSGEFAKERERVENRRAF376
CACNA1BTMEGWTDILYNTNDAAGNTWNWLYFIPLII>I<GSFFMLNLVLGVLSGEFAKERERVENRRAF372
CACNA1DTMEGWTDVLYWVNDAIGWEWPWVYFVSLII>L<GSFFVLNLVLGVLSGEFSKEREKAKARGDF422
CACNA1ETMEGWTTVLYNTNDALGATWNWLYFIPLII>I<GSFFVLNLVLGVLSGEFAKERERVENRRAF367
CACNA1FTMEGWTDVLYWMQDAMGYELPWVYFVSLVI>F<GSFFVLNLVLGVLSGEFSKEREKAKARGDF388
CACNA1GTLEGWVDIMYFVMDAHSF-YNFIYFILLII>V<GSFFMINLCLVVIATQFSETKQRESQLMRE411
CACNA1HTLEGWVDIMYYVMDAHSF-YNFIYFILLII>V<GSFFMINLCLVVIATQFSETKQRESQLMRE435
CACNA1ITLEGWVEIMYYVMDAHSF-YNFIYFILLII>V<GSFFMINLCLVVIATQFSETKQREHRLMLE414
CACNA1STMEGWTDVLYWVNDAIGNEWPWIYFVTLIL>L<GSFFILNLVLGVLSGEFTKEREKAKSRGTF350
SCN10ATQDSWERLYQQTLRTSGKIY-MIFFVLVIF>L<GSFYLVNLILAVVTMAYEEQNQATTDEIEA413
SCN11ATQDSWEKLYQQTLRTTGLYS-VFFFIVVIF>L<GSFYLINLTLAVVTMAYEEQNKNVAAEIEA416
SCN1ATQDFWENLYQLTLRAAGKTY-MIFFVLVIF>L<GSFYLINLILAVVAMAYEEQNQATLEEAEQ439
SCN2ATQDFWENLYQLTLRAAGKTY-MIFFVLVIF>L<GSFYLINLILAVVAMAYEEQNQATLEEAEQ441
SCN3ATQDYWENLYQLTLRAAGKTY-MIFFVLVIF>L<GSFYLVNLILAVVAMAYEEQNQATLEEAEQ440
SCN4ATQDYWENLFQLTLRAAGKTY-MIFFVVIIF>L<GSFYLINLILAVVAMAYAEQNEATLAEDKE463
SCN5ATQDCWERLYQQTLRSAGKIY-MIFFMLVIF>L<GSFYLVNLILAVVAMAYEEQNQATIAETEE429
SCN7AAQDYPEVLYHQILYASGKVY-MIFFVVVSF>L<FSFYMASLFLGILAMAYEEEKQRVGEISKK410
SCN8ATQDYWENLYQLTLRAAGKTY-MIFFVLVIF>V<GSFYLVNLILAVVAMAYEEQNQATLEEAEQ427
SCN9ATQDYWENLYQQTLRAAGKTY-MIFFVVVIF>L<GSFYLINLILAVVAMAYEEQNQANIEEAKQ418
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.I391Lc.1171A>T Putative BenignSIFT: tolerated
Polyphen: benign