Paralogue Annotation for CACNA1C residue 2098

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 2098
Reference Amino Acid: V - Valine
Protein Domain: C-terminus


Paralogue Variants mapped to CACNA1C residue 2098

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1HI2300VIntellectual disability, microcephaly and corticalLow1 26539891

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.



CACNA1CDMTIEEMESAADNILSGGAPQSPNGALLPF>V<NCRDAG---QDRAGGEEDA----------G2115
CACNA1A------------------------------>-<------------------------------
CACNA1BHALPEDTLTFEEAVATNSGRSSRTSYVSSL>T<SQSHPL---RRVPNGYHCTLG-LS------2322
CACNA1DDLTIDEMESAASTLLNGNVRPRANGDVGPL>S<HRQDYE---LQDFGPGYSD----------E2160
CACNA1EDCGEEETLTFEAAVATSLGRSNTIGSAPPL>R<HSW-------QMPNGHYRRRR-RG-----G2290
CACNA1FRLTLDEMDNAASDLLAQGTSS--------->-<---------------LYSD----------E1955
CACNA1GSKDPLASGPPDSMAASPSPKKDVLSLSGLS>S<DPADLD------------------------2376
CACNA1HPLDLGVPSGDPFLDGSHSVTPESRASSSGA>I<VPLEPPESEPPMPVGDPPEKRRGLYLTVPQ2330
CACNA1ISLAAPGRPHAAALAHGLARSPSWAADRSKD>P<PGRAPLPMGLGPLAPP--------------2204
CACNA1SQMEPEEVEIMATELLKGREAPEGMASSLGC>L<NL----------------------------1851
SCN10A------------------------------>-<------------------------------
SCN11A------------------------------>-<------------------------------
SCN1A------------------------------>-<------------------------------
SCN2A------------------------------>-<------------------------------
SCN3A------------------------------>-<------------------------------
SCN4A------------------------------>-<------------------------------
SCN5A------------------------------>-<------------------------------
SCN7A------------------------------>-<------------------------------
SCN8A------------------------------>-<------------------------------
SCN9A------------------------------>-<------------------------------
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 2098 for CACNA1C.