Paralogue Annotation for CACNA1C residue 1609

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1609
Reference Amino Acid: G - Glycine
Protein Domain: C-terminus


Paralogue Variants mapped to CACNA1C residue 1609

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AR1897WLong QT syndromeMedium4 19716085, 20981092, 22685113, 22995991, 25637381, 26159999, 26332594

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.



CACNA1CANEELRAIIKKIW-KRT-SMKLLDQVVPPA>G<DDEVTVGKFYATFLIQEYF-RKFKKRKE--1636
CACNA1AMDAELRKEMMAIW-PNL-SQKTLDLLVTPH>K<STDLTVGKIYAAMMIMEYY-RQSKAKK--L1974
CACNA1BCDAELRKEISVVW-ANL-PQKTLDLLVPPH>K<PDEMTVGKVYAALMIFDFY-KQNKTTRDQM1875
CACNA1DANEELRAVIKKIW-KKT-SMKLLDQVVPPA>G<DDEVTVGKFYATFLIQDYF-RKFKKRKE--1644
CACNA1ELDSELQKETLAIW-PHL-SQKMLDLLVPMP>K<ASDLTVGKIYAAMMIMDYY-KQSKVKKQ--1886
CACNA1FANQELRIVIKKIW-KRM-KQKLLDEVIPPP>D<EEEVTVGKFYATFLIQDYF-RKFRRRKE--1601
CACNA1GGSLEWELKLMDEL-AGPGGQPSAFPSAPSL>G<GSDP-----QIPLAEMEAL-SLTSEIVS--1992
CACNA1H---SVSRML-SLPNDSYM----FRPVVPAS>A<PHPR-----PLQEVEMETYGAGTPLGSV--1965
CACNA1I---EGELTIIDNL-SGSI----FHHYSSPA>G<CKKCHHDKQEVQLAETEAF-SLNSDRSS--1864
CACNA1SANEELRAIIKKIW-KRT-SMKLLDQVIPPI>G<DDEVTVGKFYATFLIQEHF-RKFMKRQE--1541
SCN10ALKANMEEKFMA---TNL-SKSSYEPIATTL>R<WKQEDIS----ATVIQKAY-RSYVLHRS--1870
SCN11AMKAMMEEKFME---ANP-LKKLYEPIVTTT>K<RKEEERG----AAIIQKAF-RKYMMKVT--1752
SCN1ALRIQMEERFMA---SNP-SKVSYQPITTTL>K<RKQEEVS----AVIIQRAY-RRHLLKRT--1934
SCN2ALRIQMEERFMA---SNP-SKVSYEPITTTL>K<RKQEEVS----AIIIQRAY-RRYLLKQK--1924
SCN3ALRIQMEDRFMA---SNP-SKVSYEPITTTL>K<RKQEEVS----AAIIQRNF-RCYLLKQR--1919
SCN4ALKQTMEEKFMA---ANP-SKVSYEPITTTL>K<RKHEEVC----AIKIQRAY-RRHLLQRS--1746
SCN5ALKIQMEEKFMA---ANP-SKISYEPITTTL>R<RKHEEVS----AMVIQRAF-RRHLLQRS--1920
SCN7AVVSEIESGFLL---ANP-FKITCEPITTTL>K<RKQEAVS----ATIIQRAY-KNYRLRRN--1644
SCN8ALRQQMEERFVA---SNP-SKVSYEPITTTL>R<RKQEEVS----AVVLQRAY-RGHLARRG--1914
SCN9ALRSQMEERFMS---ANP-SKVSYEPITTTL>K<RKQEDVS----ATVIQRAY-RRYRLRQN--1897
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1609 for CACNA1C.