Paralogue Annotation for CACNA1C residue 1289

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1289
Reference Amino Acid: L - Leucine
Protein Domain: TM domain 4


Paralogue Variants mapped to CACNA1C residue 1289

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AV1597MLong QT syndromeMedium9 19862833, 26159999

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.



CACNA1CTGLFTVEMILKLIAFKPKHYFCDAWNTFDA>L<IVVGSIVDIAITEVNPAE----HTQ----C1311
CACNA1ATSLFSLECVLKVMAFGILNYFRDAWNIFDF>V<TVLGSITDILVTEFGNN-------------1653
CACNA1BTSMFSMECVLKIIAFGVLNYFRDAWNVFDF>V<TVLGSITDILVTEIAET-------------1559
CACNA1DTGVFTVEMVLKVIAFKPKGYFSDAWNTFDS>L<IVIGSIIDVALSEADPTE----SENVPVPT1321
CACNA1ETMVFSLECVLKVIAFGFLNYFRDTWNIFDF>I<TVIGSITEIILTDSKLV-------------1565
CACNA1FTGLFTIEMVLKIIAFKPKHYFTDAWNTFDA>L<IVVGSIVDIAVTEVNNGG----HLG----E1282
CACNA1GTVIFVLESVFKLVAFGFRRFFQDRWNQLDL>A<IVLLSIMGITLEEIEVN-------------1698
CACNA1HTIVFVFEAALKLVAFGFRRFFKDRWNQLDL>A<IVLLSLMGITLEEIEMS-------------1704
CACNA1ITTVFVLEAVLKLVAFGLRRFFKDRWNQLDL>A<IVLLSVMGITLEEIEIN-------------1574
CACNA1STIIFTLEMILKLMAFKARGYFGDPWNVFDF>L<IVIGSIIDVILSEIDTFLASSGGLYCLGGG1218
SCN10AVAVFTGECVMKMFALR-QYYFTNGWNVFDF>I<VVVLSIASLIFSAILKS-------------1562
SCN11AVVIFTLECLIKIFALR-QYYFTNGWNLFDC>V<VVLLSIVSTMISTLENQ-------------1452
SCN1AIVLFTGECVLKLISLR-HYYFTIGWNIFDF>V<VVILSIVGMFLAELIE--------------1626
SCN2AIVLFTGECVLKLISLR-YYYFTIGWNIFDF>V<VVILSIVGMFLAELIE--------------1616
SCN3AIVLFTGEFVLKLVSLR-HYYFTIGWNIFDF>V<VVILSIVGMFLAEMIE--------------1611
SCN4AIIIFTGECVLKMLALR-QYYFTVGWNIFDF>V<VVILSIVGLALSDLIQ--------------1438
SCN5AVAIFTGECIVKLAALR-HYYFTNSWNIFDF>V<VVILSIVGTVLSDIIQ--------------1613
SCN7AVMLYTMECILKLIAFR-CFYFTIAWNIFDF>M<VVIFSITGLCLPMTVG--------------1336
SCN8AVIFFTCECVLKMFALR-HYYFTIGWNIFDF>V<VVILSIVGMFLADIIE--------------1607
SCN9AIILFTGECVLKLISLR-HYYFTVGWNIFDF>V<VVIISIVGMFLADLIE--------------1589
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1289 for CACNA1C.