Paralogue Annotation for CACNA1C residue 1160

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1160
Reference Amino Acid: I - Isoleucine
Protein Domain: TM domain 3


Paralogue Variants mapped to CACNA1C residue 1160

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1HM1549VAldosteronism, primaryMedium9 25907736, 25907736
SCN11AL1302FCongenital indifference to painMedium9 26746779

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.



CACNA1CEDKGPIYNYRVEISIFFIIYIIIIAFFMMN>I<FVGFVIVTFQEQGEQE----YKNCELDKNQ1186
CACNA1AENQGPSPGYRMEMSIFYVVYFVVFPFFFVN>I<FVALIIITFQEQGDKM----MEEYSLEKNE1531
CACNA1BEEQGPSPGYRMELSIFYVVYFVVFPFFFVN>I<FVALIIITFQEQGDKV----MSECSLEKNE1437
CACNA1DENIGPIYNHRVEISIFFIIYIIIVAFFMMN>I<FVGFVIVTFQEQGEKE----YKNCELDKNQ1192
CACNA1EEDRGPSRSNRMEMSIFYVVYFVVFPFFFVN>I<FVALIIITFQEQGDKM----MEECSLEKNE1443
CACNA1FEDHGPIYNYRVEISVFFIVYIIIIAFFMMN>I<FVGFVIITFRAQGEQE----YQNCELDKNQ1157
CACNA1GVDQQPIMNHNPWMLLYFISFLLIVAFFVLN>M<FVGVVVENFHKCRQHQEEEEARRREEKRLR1561
CACNA1HVDQQPVQNHNPWMLLYFISFLLIVSFFVLN>M<FVGVVVENFHKCRQHQEAEEARRREEK---1576
CACNA1IVDQQPVTNHNPWMLLYFISFLLIVSFFVLN>M<FVGVVVENFHKCRQHQEAEEARRREEK---1452
CACNA1SEDVGPIYNNRVEMAIFFIIYIILIAFFMMN>I<FVGFVIVTFQEQGETE----YKNCELDKNQ1085
SCN10AVNMQPKWEDNVYMYLYFVIFIIFGGFFTLN>L<FVGVIIDNFNQQKKKLGGQDIFMTEEQKKY1442
SCN11AKEQQPEFESNSLGYIYFVVFIIFGSFFTLN>L<FIGVIIDNFNQQQKKLGGQDIFMTEEQKKY1332
SCN1AVELQPKYEESLYMYLYFVIFIIFGSFFTLN>L<FIGVIIDNFNQQKKKFGGQDIFMTEEQKKY1507
SCN2AVELQPKYEDNLYMYLYFVIFIIFGSFFTLN>L<FIGVIIDNFNQQKKKFGGQDIFMTEEQKKY1497
SCN3AVKLQPVYEENLYMYLYFVIFIIFGSFFTLN>L<FIGVIIDNFNQQKKKFGGQDIFMTEEQKKY1492
SCN4AKEEQPQYEVNLYMYLYFVIFIIFGSFFTLN>L<FIGVIIDNFNQQKKKLGGKDIFMTEEQKKY1319
SCN5AYEEQPQWEYNLYMYIYFVIFIIFGSFFTLN>L<FIGVIIDNFNQQKKKLGGQDIFMTEEQKKY1494
SCN7AVNIQPHFEVNIYMYCYFINFIIFGVFLPLS>M<LITVIIDNFNKHKIKLGGSNIFITVKQRKQ1217
SCN8APDEQPKYEDNIYMYIYFVIFIIFGSFFTLN>L<FIGVIIDNFNQQKKKFGGQDIFMTEEQKKY1488
SCN9AVDKQPKYEYSLYMYIYFVVFIIFGSFFTLN>L<FIGVIIDNFNQQKKKLGGQDIFMTEEQKKY1470
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1160 for CACNA1C.