Paralogue Annotation for CACNA1C residue 1298

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1298
Reference Amino Acid: I - Isoleucine
Protein Domain: TM domain 4


Paralogue Variants mapped to CACNA1C residue 1298

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AM1619VIntractable epilepsyMedium9 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.



CACNA1CLKLIAFKPKHYFCDAWNTFDALIVVGSIVD>I<AITEVNPAE----HTQ----CSPSMNAEEN1320
CACNA1ALKVMAFGILNYFRDAWNIFDFVTVLGSITD>I<LVTEFGNN----------------------1653
CACNA1BLKIIAFGVLNYFRDAWNVFDFVTVLGSITD>I<LVTEIAET---------------------N1560
CACNA1DLKVIAFKPKGYFSDAWNTFDSLIVIGSIID>V<ALSEADPTE----SENVPVPTATPGNSEES1330
CACNA1ELKVIAFGFLNYFRDTWNIFDFITVIGSITE>I<ILTDSKLV--------------------NT1567
CACNA1FLKIIAFKPKHYFTDAWNTFDALIVVGSIVD>I<AVTEVNNGG----HLG----E----SSEDS1287
CACNA1GFKLVAFGFRRFFQDRWNQLDLAIVLLSIMG>I<TLEEIEVN--------------------AS1700
CACNA1HLKLVAFGFRRFFKDRWNQLDLAIVLLSLMG>I<TLEEIEMS--------------------AA1706
CACNA1ILKLVAFGLRRFFKDRWNQLDLAIVLLSVMG>I<TLEEIEIN--------------------AA1576
CACNA1SLKLMAFKARGYFGDPWNVFDFLIVIGSIID>V<ILSEIDTFLASSGGLYCLGGGCGNVDPDES1227
SCN10AMKMFALR-QYYFTNGWNVFDFIVVVLSIAS>L<IFSAILKS--------------------LQ1564
SCN11AIKIFALR-QYYFTNGWNLFDCVVVLLSIVS>T<MISTLENQ--------------------EH1454
SCN1ALKLISLR-HYYFTIGWNIFDFVVVILSIVG>M<FLAELIE----------------------K1627
SCN2ALKLISLR-YYYFTIGWNIFDFVVVILSIVG>M<FLAELIE----------------------K1617
SCN3ALKLVSLR-HYYFTIGWNIFDFVVVILSIVG>M<FLAEMIE----------------------K1612
SCN4ALKMLALR-QYYFTVGWNIFDFVVVILSIVG>L<ALSDLIQ----------------------K1439
SCN5AVKLAALR-HYYFTNSWNIFDFVVVILSIVG>T<VLSDIIQ----------------------K1614
SCN7ALKLIAFR-CFYFTIAWNIFDFMVVIFSITG>L<CLPMTVG----------------------S1337
SCN8ALKMFALR-HYYFTIGWNIFDFVVVILSIVG>M<FLADIIE----------------------K1608
SCN9ALKLISLR-HYYFTVGWNIFDFVVVIISIVG>M<FLADLIE----------------------T1590
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1298 for CACNA1C.