Paralogue Annotation for CACNA1C residue 1608

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1608
Reference Amino Acid: A - Alanine
Protein Domain: C-terminus


Paralogue Variants mapped to CACNA1C residue 1608

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AL1896VIrritable bowel syndromeMedium4 24613995

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.



CACNA1CQANEELRAIIKKIW-KRT-SMKLLDQVVPP>A<GDDEVTVGKFYATFLIQEYF-RKFKKRKE-1636
CACNA1AQMDAELRKEMMAIW-PNL-SQKTLDLLVTP>H<KSTDLTVGKIYAAMMIMEYY-RQSKAKK--1973
CACNA1BQCDAELRKEISVVW-ANL-PQKTLDLLVPP>H<KPDEMTVGKVYAALMIFDFY-KQNKTTRDQ1874
CACNA1DQANEELRAVIKKIW-KKT-SMKLLDQVVPP>A<GDDEVTVGKFYATFLIQDYF-RKFKKRKE-1644
CACNA1EQLDSELQKETLAIW-PHL-SQKMLDLLVPM>P<KASDLTVGKIYAAMMIMDYY-KQSKVKKQ-1886
CACNA1FQANQELRIVIKKIW-KRM-KQKLLDEVIPP>P<DEEEVTVGKFYATFLIQDYF-RKFRRRKE-1601
CACNA1GQGSLEWELKLMDEL-AGPGGQPSAFPSAPS>L<GGSDP-----QIPLAEMEAL-SLTSEIVS-1992
CACNA1H----SVSRML-SLPNDSYM----FRPVVPA>S<APHPR-----PLQEVEMETYGAGTPLGSV-1965
CACNA1I----EGELTIIDNL-SGSI----FHHYSSP>A<GCKKCHHDKQEVQLAETEAF-SLNSDRSS-1864
CACNA1SQANEELRAIIKKIW-KRT-SMKLLDQVIPP>I<GDDEVTVGKFYATFLIQEHF-RKFMKRQE-1541
SCN10ASLKANMEEKFMA---TNL-SKSSYEPIATT>L<RWKQEDIS----ATVIQKAY-RSYVLHRS-1870
SCN11ASMKAMMEEKFME---ANP-LKKLYEPIVTT>T<KRKEEERG----AAIIQKAF-RKYMMKVT-1752
SCN1AALRIQMEERFMA---SNP-SKVSYQPITTT>L<KRKQEEVS----AVIIQRAY-RRHLLKRT-1934
SCN2AALRIQMEERFMA---SNP-SKVSYEPITTT>L<KRKQEEVS----AIIIQRAY-RRYLLKQK-1924
SCN3AALRIQMEDRFMA---SNP-SKVSYEPITTT>L<KRKQEEVS----AAIIQRNF-RCYLLKQR-1919
SCN4AALKQTMEEKFMA---ANP-SKVSYEPITTT>L<KRKHEEVC----AIKIQRAY-RRHLLQRS-1746
SCN5AALKIQMEEKFMA---ANP-SKISYEPITTT>L<RRKHEEVS----AMVIQRAF-RRHLLQRS-1920
SCN7AKVVSEIESGFLL---ANP-FKITCEPITTT>L<KRKQEAVS----ATIIQRAY-KNYRLRRN-1644
SCN8AILRQQMEERFVA---SNP-SKVSYEPITTT>L<RRKQEEVS----AVVLQRAY-RGHLARRG-1914
SCN9ASLRSQMEERFMS---ANP-SKVSYEPITTT>L<KRKQEDVS----ATVIQRAY-RRYRLRQN-1897
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1608 for CACNA1C.