Paralogue Annotation for CACNA1C residue 438

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 438
Reference Amino Acid: L - Leucine
Protein Domain: Interdomain Linker I-II


Paralogue Variants mapped to CACNA1C residue 438

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AH445DAtrial fibrillationMedium4 18378609, 25650408

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.



CACNA1CDFQKLREKQQLEEDLKG------------Y>L<DWITQA-ED-----------------IDPE450
CACNA1AAFLKLRRQQQIERELNG------------Y>M<EWISKA-EE-----------------VILA405
CACNA1BAFLKLRRQQQIERELNG------------Y>L<EWIFKA-EE-----------------VMLA401
CACNA1DDFQKLREKQQLEEDLKG------------Y>L<DWITQA-ED-----------------IDPE451
CACNA1EAFMKLRRQQQIERELNG------------Y>R<AWIDKA-EE-----------------VMLA396
CACNA1FDFQKQREKQQMEEDLRG------------Y>L<DWITQA-EE-----------------LDME417
CACNA1GREQRVRFLSNASTLASFSEPGSCYEELLKY>L<VYILRKAAR-------------RLAQVSRA457
CACNA1HREQRARHLSNDSTLASFSEPGSCYEELLKY>V<GHIFRKVKR-------------RSLRLYAR481
CACNA1ILEQRQRYLS-SSTVASYAEPGDCYEEIFQY>V<CHILRKAKR-------------RALGLYQA459
CACNA1STFQKLREKQQLDEDLRG------------Y>M<SWITQG-EV-----------------MDVE379
SCN10AEAK-EKKFQEALEMLRK------------E>Q<EVLAALGIDTTS------------------441
SCN11AEAK-EKMFQEAQQLLKE------------E>K<EALVAMGIDRSS------------------444
SCN1AEQK-EAEFQQMIEQLKK------------Q>Q<EAAQQAATATAS----EHSREPSAAGRL--479
SCN2AEQK-EAEFQQMLEQLKK------------Q>Q<EEAQAAAAAASA-----ESRDFSGAGGIGV482
SCN3AEQK-EAEFQQMLEQLKK------------Q>Q<EEAQAVAAASAA------SRDFSGIGGLGE480
SCN4AKEK-EEEFQQMLEKFKK------------H>Q<EELEKAKAAQAL------------------491
SCN5AEEK-EKRFQEAMEMLKK------------E>H<EALTIRGVDTVS------------------457
SCN7AKKI-EPKFQQTGKELQE------------G>N<ETDEAK------------------------432
SCN8AEQK-EAEFKAMLEQLKK------------Q>Q<EEAQAAAMATSAGTVSEDAIEEEGEEGG-G472
SCN9AKQK-ELEFQQMLDRLKK------------E>Q<EEAEAIAAAAAE----YTSIRRSRIMGL--458
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.L438Rc.1313T>G Putative BenignSIFT:
Polyphen: