Paralogue Annotation for CACNA1C residue 439

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 439
Reference Amino Acid: D - Aspartate
Protein Domain: Interdomain Linker I-II


Paralogue Variants mapped to CACNA1C residue 439

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AE446KCardiomyopathy, dilatedLow3 21596231, 23299917, 25102755, 25637381

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.



CACNA1CFQKLREKQQLEEDLKG------------YL>D<WITQA-ED-----------------IDPEN451
CACNA1AFLKLRRQQQIERELNG------------YM>E<WISKA-EE-----------------VILAE406
CACNA1BFLKLRRQQQIERELNG------------YL>E<WIFKA-EE-----------------VMLAE402
CACNA1DFQKLREKQQLEEDLKG------------YL>D<WITQA-ED-----------------IDPEN452
CACNA1EFMKLRRQQQIERELNG------------YR>A<WIDKA-EE-----------------VMLAE397
CACNA1FFQKQREKQQMEEDLRG------------YL>D<WITQA-EE-----------------LDMED418
CACNA1GEQRVRFLSNASTLASFSEPGSCYEELLKYL>V<YILRKAAR-------------RLAQVSRA-457
CACNA1HEQRARHLSNDSTLASFSEPGSCYEELLKYV>G<HIFRKVKR-------------RSLRLYARW482
CACNA1IEQRQRYLS-SSTVASYAEPGDCYEEIFQYV>C<HILRKAKR-------------RALGLYQAL460
CACNA1SFQKLREKQQLDEDLRG------------YM>S<WITQG-EV-----------------MDVED380
SCN10AAK-EKKFQEALEMLRK------------EQ>E<VLAALGIDTTS-------------------441
SCN11AAK-EKMFQEAQQLLKE------------EK>E<ALVAMGIDRSS-------------------444
SCN1AQK-EAEFQQMIEQLKK------------QQ>E<AAQQAATATAS----EHSREPSAAGRL---479
SCN2AQK-EAEFQQMLEQLKK------------QQ>E<EAQAAAAAASA-----ESRDFSGAGGIGVF483
SCN3AQK-EAEFQQMLEQLKK------------QQ>E<EAQAVAAASAA------SRDFSGIGGLGEL481
SCN4AEK-EEEFQQMLEKFKK------------HQ>E<ELEKAKAAQAL-------------------491
SCN5AEK-EKRFQEAMEMLKK------------EH>E<ALTIRGVDTVS-------------------457
SCN7AKI-EPKFQQTGKELQE------------GN>E<TDEAK-------------------------432
SCN8AQK-EAEFKAMLEQLKK------------QQ>E<EAQAAAMATSAGTVSEDAIEEEGEEGG-GS473
SCN9AQK-ELEFQQMLDRLKK------------EQ>E<EAEAIAAAAAE----YTSIRRSRIMGL---458
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 439 for CACNA1C.