Paralogue Annotation for CACNA1C residue 1625

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1625
Reference Amino Acid: Q - Glutamine
Protein Domain: C-terminus


Paralogue Variants mapped to CACNA1C residue 1625

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AQ1909RLong QT syndromeHigh8 15840476, 26159999, 25757662
SCN1AQ1923RPartial epilepsy with febrile seizures plusHigh8 22151702, 23773995

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.



CACNA1CT-SMKLLDQVVPPAGDDEVTVGKFYATFLI>Q<EYF-RKFKKRKE--QGLV-GK--PS-----1644
CACNA1AL-SQKTLDLLVTPHKSTDLTVGKIYAAMMI>M<EYY-RQSKAKK--LQAMR-E---EQDRTPL1986
CACNA1BL-PQKTLDLLVPPHKPDEMTVGKVYAALMI>F<DFY-KQNKTTRDQMQQAPGG---LS----Q1884
CACNA1DT-SMKLLDQVVPPAGDDEVTVGKFYATFLI>Q<DYF-RKFKKRKE--QGLV-GK-YPA-----1653
CACNA1EL-SQKMLDLLVPMPKASDLTVGKIYAAMMI>M<DYY-KQSKVKKQ--RQQL-E---EQ-KNAP1897
CACNA1FM-KQKLLDEVIPPPDEEEVTVGKFYATFLI>Q<DYF-RKFRRRKE--KGLL-GN-DAA-----1610
CACNA1GPGGQPSAFPSAPSLGGSDP-----QIPLAE>M<EAL-SLTSEIVS--EPSC------------1996
CACNA1HYM----FRPVVPASAPHPR-----PLQEVE>M<ETYGAGTPLGSV--ASVH-SP-PAE-SCAS1978
CACNA1ISI----FHHYSSPAGCKKCHHDKQEVQLAE>T<EAF-SLNSDRSS--SILL-GD-DLS-LEDP1877
CACNA1ST-SMKLLDQVIPPIGDDEVTVGKFYATFLI>Q<EHF-RKFMKRQE--EYY--GY--RP-----1548
SCN10AL-SKSSYEPIATTLRWKQEDIS----ATVI>Q<KAY-RSYVLHRS--MALS-NTPCVP-----1880
SCN11AP-LKKLYEPIVTTTKRKEEERG----AAII>Q<KAF-RKYMMKVT--KGDQ-G-D--Q-----1759
SCN1AP-SKVSYQPITTTLKRKQEEVS----AVII>Q<RAY-RRHLLKRT--VKQA-SFTYNK-----1944
SCN2AP-SKVSYEPITTTLKRKQEEVS----AIII>Q<RAY-RRYLLKQK--VKKV-SSIYKK-----1934
SCN3AP-SKVSYEPITTTLKRKQEEVS----AAII>Q<RNF-RCYLLKQR--LKNI-SSNYNK-----1929
SCN4AP-SKVSYEPITTTLKRKHEEVC----AIKI>Q<RAY-RRHLLQRS--MKQA-SYMYRH-----1756
SCN5AP-SKISYEPITTTLRRKHEEVS----AMVI>Q<RAF-RRHLLQRS--LKHA-SFLFRQ-----1930
SCN7AP-FKITCEPITTTLKRKQEAVS----ATII>Q<RAY-KNYRLRRN--DKNT-SDIHMI-----1654
SCN8AP-SKVSYEPITTTLRRKQEEVS----AVVL>Q<RAY-RGHLARRG--FIC-------------1917
SCN9AP-SKVSYEPITTTLKRKQEDVS----ATVI>Q<RAY-RRYRLRQN--VKNI-SSIYIK-----1907
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1625 for CACNA1C.