Paralogue Annotation for CACNA1C residue 1410

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1410
Reference Amino Acid: F - Phenylalanine
Protein Domain: TM domain 4


Paralogue Variants mapped to CACNA1C residue 1410

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AF1705SSudden infant death syndromeHigh9 18596570

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.



CACNA1CND---TTE-----INRNNNFQTFPQAVLLL>F<RCATGEAWQDIMLACMPG--KKCAPESEP-1437
CACNA1ADVEDEDSDEDEFQITEHNNFRTFFQALMLL>F<RSATGEAWHNIMLSCLSG--KPCDKNSGIL1778
CACNA1BDD---DTS-----INRHNNFRTFLQALMLL>F<RSATGEAWHEIMLSCLSN--QACDE---Q-1674
CACNA1DRD---NNQ-----INRNNNFQTFPQAVLLL>F<RCATGEAWQEIMLACLPG--KLCDPESDY-1447
CACNA1EDE---ESH-----INRHNNFRSFFGSLMLL>F<RSATGEAWQEIMLSCLGE--KGCEPDTTAP1685
CACNA1FQD---GTQ-----INRNNNFQTFPQAVLLL>F<RCATGEAWQEIMLASLPG--NRCDPESDF-1404
CACNA1GDET---HP--CEGLGRHATFRNFGMAFLTL>F<RVSTGDNWNGIMKDTLRD----CDQEST--1820
CACNA1HSED---NP--CEGLSRHATFSNFGMAFLTL>F<RVSTGDNWNGIMKDTLRE----CSREDKH-1827
CACNA1INDE---NP--CEGMSRHATFENFGMAFLTL>F<QVSTGDNWNGIMKDTLRD----CTHDERS-1697
CACNA1SVD---GTQ-----INRNNNFQTFPQAVLLL>F<RCATGEAWQEILLACSYG--KLCDPESDY-1344
SCN10A-----EAG-----IDDMFNFQTFANSMLCL>F<QITTSAGWDGLLSPILNTGPPYCDPNLPN-1684
SCN11A-----ESG-----IDDIFNFKTFASSMLCL>F<QISTSAGWDSLLSPMLRSKES-CN------1568
SCN1A-----EVG-----IDDMFNFETFGNSMICL>F<QITTSAGWDGLLAPILNSKPPDCDPNKVN-1747
SCN2A-----EVG-----IDDMFNFETFGNSMICL>F<QITTSAGWDGLLAPILNSGPPDCDPDKDH-1737
SCN3A-----EAG-----IDDMFNFETFGNSMICL>F<QITTSAGWDGLLAPILNSAPPDCDPDTIH-1732
SCN4A-----ESG-----IDDMFNFETFGNSIICL>F<EITTSAGWDGLLNPILNSGPPDCDPNLEN-1559
SCN5A-----EAG-----IDDMFNFQTFANSMLCL>F<QITTSAGWDGLLSPILNTGPPYCDPTLPN-1734
SCN7A-----EAG-----INDVSNFETFGNSMLCL>F<QVAIFAGWDGMLDAIFNSKWSDCDPDKIN-1457
SCN8A-----EAG-----IDDMFNFETFGNSMICL>F<QITTSAGWDGLLLPILN-RPPDCSLDKEH-1727
SCN9A-----EDG-----INDMFNFETFGNSMICL>F<QITTSAGWDGLLAPILNSKPPDCDPKKVH-1710
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1410 for CACNA1C.