Paralogue Annotation for CACNA1C residue 1126

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1126
Reference Amino Acid: D - Aspartate
Protein Domain: TM domain 3


Paralogue Variants mapped to CACNA1C residue 1126

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AD1430NBrugada-like ST elevationHigh9 23612926

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.



CACNA1CFDFDNVLAAMMALFTVSTFEGWPELLYRSI>D<SHTEDKGPIYNYRVEISIFFIIYIIIIAFF1156
CACNA1AFHYDNVLWALLTLFTVSTGEGWPQVLKHSV>D<ATFENQGPSPGYRMEMSIFYVVYFVVFPFF1501
CACNA1BFHYDNVLWALLTLFTVSTGEGWPMVLKHSV>D<ATYEEQGPSPGYRMELSIFYVVYFVVFPFF1407
CACNA1DFNFDNVLSAMMALFTVSTFEGWPALLYKAI>D<SNGENIGPIYNHRVEISIFFIIYIIIVAFF1162
CACNA1EFHYDNIIWALLTLFTVSTGEGWPQVLQHSV>D<VTEEDRGPSRSNRMEMSIFYVVYFVVFPFF1413
CACNA1FFNFDNVLSAMMALFTVSTFEGWPALLYKAI>D<AYAEDHGPIYNYRVEISVFFIVYIIIIAFF1127
CACNA1GYNFDNLGQALMSLFVLASKDGWVDIMYDGL>D<AVGVDQQPIMNHNPWMLLYFISFLLIVAFF1527
CACNA1HYNFDNLGQALMSLFVLSSKDGWVNIMYDGL>D<AVGVDQQPVQNHNPWMLLYFISFLLIVSFF1545
CACNA1IYNFDNLGQALMSLFVLASKDGWVNIMYNGL>D<AVAVDQQPVTNHNPWMLLYFISFLLIVSFF1421
CACNA1SFHFDNVLSAMMSLFTVSTFEGWPQLLYKAI>D<SNAEDVGPIYNNRVEMAIFFIIYIILIAFF1055
SCN10AVNFDNVAMGYLALLQVATFKGWMDIMYAAV>D<SREVNMQPKWEDNVYMYLYFVIFIIFGGFF1408
SCN11AVNFDNVGNAYLALLQVATFKGWMDIIYAAV>D<STEKEQQPEFESNSLGYIYFVVFIIFGSFF1298
SCN1AVNFDNVGFGYLSLLQVATFKGWMDIMYAAV>D<SRNVELQPKYEESLYMYLYFVIFIIFGSFF1473
SCN2AVNFDNVGLGYLSLLQVATFKGWMDIMYAAV>D<SRNVELQPKYEDNLYMYLYFVIFIIFGSFF1463
SCN3AVNFDNVGAGYLALLQVATFKGWMDIMYAAV>D<SRDVKLQPVYEENLYMYLYFVIFIIFGSFF1458
SCN4AVNYDNVGLGYLSLLQVATFKGWMDIMYAAV>D<SREKEEQPQYEVNLYMYLYFVIFIIFGSFF1285
SCN5AVNFDNVGAGYLALLQVATFKGWMDIMYAAV>D<SRGYEEQPQWEYNLYMYIYFVIFIIFGSFF1460
SCN7AMNFDNVGNGFLSLLQVATFNGWITIMNSAI>D<SVAVNIQPHFEVNIYMYCYFINFIIFGVFL1183
SCN8AINFDNVGAGYLALLQVATFKGWMDIMYAAV>D<SRKPDEQPKYEDNIYMYIYFVIFIIFGSFF1454
SCN9AVNFDNVGLGYLSLLQVATFKGWTIIMYAAV>D<SVNVDKQPKYEYSLYMYIYFVVFIIFGSFF1436
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1126 for CACNA1C.