Paralogue Annotation for CACNA1C residue 1640

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1640
Reference Amino Acid: V - Valine
Protein Domain: C-terminus


Paralogue Variants mapped to CACNA1C residue 1640

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AA1924TBrugada syndromeLow2 10690282, 23414114, 26111534

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.



CACNA1CVTVGKFYATFLIQEYF-RKFKKRKE--QGL>V<-GK--PS--------QRNALS-L-QAGLRT1657
CACNA1ALTVGKIYAAMMIMEYY-RQSKAKK--LQAM>R<-E---EQDRTPLMFQRMEPPS------PTQ1998
CACNA1BMTVGKVYAALMIFDFY-KQNKTTRDQMQQA>P<GG---LS----QMGPVSLFHP------LKA1896
CACNA1DVTVGKFYATFLIQDYF-RKFKKRKE--QGL>V<-GK-YPA--------KNTTIA-L-QAGLRT1666
CACNA1ELTVGKIYAAMMIMDYY-KQSKVKKQ--RQQ>L<-E---EQ-KNAPMFQRMEPSS------LPQ1909
CACNA1FVTVGKFYATFLIQDYF-RKFRRRKE--KGL>L<-GN-DAA--------PSTSSA-L-QAGLRS1623
CACNA1GP-----QIPLAEMEAL-SLTSEIVS--EPS>C<------------------SLA------LTD2002
CACNA1HR-----PLQEVEMETYGAGTPLGSV--ASV>H<-SP-PAE-SCASLQIPLAVSS------PAR1990
CACNA1ICHHDKQEVQLAETEAF-SLNSDRSS--SIL>L<-GD-DLS-LEDPTACPPGRKD------SKG1889
CACNA1SVTVGKFYATFLIQEHF-RKFMKRQE--EYY>-<-GY--RP--------KKDIVQ-I-QAGLRT1561
SCN10AEDIS----ATVIQKAY-RSYVLHRS--MAL>S<-NTPCVP---------RAEEE---AASLPD1891
SCN11AEERG----AAIIQKAF-RKYMMKVT--KGD>Q<-G-D--Q-----------------------1759
SCN1AEEVS----AVIIQRAY-RRHLLKRT--VKQ>A<-SFTYNK---------NKIKG--GANLLIK1956
SCN2AEEVS----AIIIQRAY-RRYLLKQK--VKK>V<-SSIYKK---------DKGKE--CDGTPIK1946
SCN3AEEVS----AAIIQRNF-RCYLLKQR--LKN>I<-SSNYNK---------EAIKG--RIDLPIK1941
SCN4AEEVC----AIKIQRAY-RRHLLQRS--MKQ>A<-SYMYRH---------SHDGS--GDDAPEK1768
SCN5AEEVS----AMVIQRAF-RRHLLQRS--LKH>A<-SFLFRQ---------QAGSGLSEEDAPER1944
SCN7AEAVS----ATIIQRAY-KNYRLRRN--DKN>T<-SDIHMI---------DGDR----DVHATK1664
SCN8AEEVS----AVVLQRAY-RGHLARRG--FIC>-<-----------------------------K1918
SCN9AEDVS----ATVIQRAY-RRYRLRQN--VKN>I<-SSIYIK---------DGDRD---DDLLNK1918
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1640 for CACNA1C.