Paralogue Annotation for CACNA1C residue 549

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 549
Reference Amino Acid: P - Proline
Protein Domain: TM domain 2


Paralogue Variants mapped to CACNA1C residue 549

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AT793MDravet syndromeMedium9 22848613

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.



CACNA1CAAVKSNVFYWLVIFLVFLNTLTIASEHYNQ>P<NWLTEVQDTANKALLALFTAEMLLKMYSLG579
CACNA1ARMVKTQAFYWTVLSLVALNTLCVAIVHYNQ>P<EWLSDFLYYAEFIFLGLFMSEMFIKMYGLG542
CACNA1BRMVKAQSFYWVVLCVVALNTLCVAMVHYNQ>P<RRLTTTLYFAEFVFLGLFLTEMSLKMYGLG538
CACNA1DAAVKSVTFYWLVIVLVFLNTLTISSEHYNQ>P<DWLTQIQDIANKVLLALFTCEMLVKMYSLG598
CACNA1EHMVKSQVFYWIVLSLVALNTACVAIVHHNQ>P<QWLTHLLYYAEFLFLGLFLLEMSLKMYGMG531
CACNA1FRAVKSNACYWAVLLLVFLNTLTIASEHHGQ>P<VWLTQIQEYANKVLLCLFTVEMLLKLYGLG584
CACNA1GKIVDSKYFGRGIMIAILVNTLSMGIEYHEQ>P<EELTNALEISNIVFTSLFALEMLLKLLVYG798
CACNA1HRIVDSKYFSRGIMMAILVNTLSMGVEYHEQ>P<EELTNALEISNIVFTSMFALEMLLKLLACG848
CACNA1IGIVDSKYFNRGIMMAILVNTVSMGIEHHEQ>P<EELTNILEICNVVFTSMFALEMILKLAAFG695
CACNA1SDIVKSKVFYWLVILIVALNTLSIASEHHNQ>P<LWLTRLQDIANRVLLSLFTTEMLMKMYGLG487
SCN10AGLVTDPFAELTITLCIVVNTIFMAMEHHGM>S<PTFEAMLQIGNIVFTIFFTAEMVFKIIAFD720
SCN11ATVMTDPFTELAITICIIINTVFLAMEHHKM>E<ASFEKMLNIGNLVFTSIFIAEMCLKIIALD632
SCN1ALVVMDPFVDLAITICIVLNTLFMAMEHYPM>T<DHFNNVLTVGNLVFTGIFTAEMFLKIIAMD823
SCN2ALVVMDPFVDLAITICIVLNTLFMAMEHYPM>T<EQFSSVLSVGNLVFTGIFTAEMFLKIIAMD814
SCN3ALIVMDPFVDLAITICIVLNTLFMAMEHYPM>T<EQFSSVLTVGNLVFTGIFTAEMVLKIIAMD815
SCN4ALIVMDPFVDLGITICIVLNTLFMAMEHYPM>T<EHFDNVLTVGNLVFTGIFTAEMVLKLIAMD633
SCN5ALVVMDPFTDLTITMCIVLNTLFMALEHYNM>T<SEFEEMLQVGNLVFTGIFTAEMTFKIIALD772
SCN7ARIIMAPFTDLFLIICIILNVCFLTLEHYPM>S<KQTNTLLNIGNLVFIGIFTAEMIFKIIAMH560
SCN8ALIVMDPFVDLAITICIVLNTLFMAMEHHPM>T<PQFEHVLAVGNLVFTGIFTAEMFLKLIAMD808
SCN9AFIVMDPFVDLAITICIVLNTLFMAMEHHPM>T<EEFKNVLAIGNLVFTGIFAAEMVLKLIAMD788
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 549 for CACNA1C.