Paralogue Annotation for CACNA1C residue 1557

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1557
Reference Amino Acid: M - Methionine
Protein Domain: C-terminus


Paralogue Variants mapped to CACNA1C residue 1557

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN2AH1853ROhtahara syndromeMedium9 24463883
SCN5AH1849RArrhythmiaMedium9 26392562

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.



CACNA1C--FGKLCPHRVACKRLVSMNMPLNSDG-TV>M<FNATLFALVRTALRIKTEG---NLEQANEE1584
CACNA1A--LGKKCPHRVACKRLLRMDLPVADD-NTV>H<FNSTLMALIRTALDIKIAKGGADKQQMDAE1922
CACNA1B--LGKKCPARVAYKRLVRMNMPISNEDMTV>H<FTSTLMALIRTALEIKLAPAGTKQHQCDAE1821
CACNA1D--FGKLCPHRVACKRLVAMNMPLNSDG-TV>M<FNATLFALVRTALKIKTEG---NLEQANEE1592
CACNA1E--LGKRCPSKVAYKRLVLMNMPVAED-MTV>H<FTSTLMALIRTALDIKIAKGGADRQQLDSE1834
CACNA1F--FGKLCPHRVACKRLVAMNMPLNSDG-TV>T<FNATLFALVRTSLKIKTEG---NLEQANQE1549
CACNA1G--PDSPKPGAL---------HPAAHA-RSA>S<HFSLEHPTDRQLFDTI---S--LLIQGSLE1944
CACNA1H--QESPG--AR--------DAPN------->-<-------LVARKV----------------S1920
CACNA1IAGGGGDT--EG---GLCRRCYSPAQE-N-->L<WLDSVSLIIKDSL----------------E1815
CACNA1S--FGKFCPHRVACKRLVGMNMPLNSDG-TV>T<FNATLFALVRTALKIKTEG---NFEQANEE1489
SCN10A--IPK--PNRN---ILIQMDLPLVPGD-KI>H<CLDILFAFTKNVLGES--G---ELDSLKAN1824
SCN11A--VAK--PNKY---QFLVMDLPMVSED-RL>H<CMDILFAFTARVLGGS--D---GLDSMKAM1706
SCN1A--LPQ--PNKL---QLIAMDLPMVSGD-RI>H<CLDILFAFTKRVLGES--G---EMDALRIQ1888
SCN2A--IAK--PNKV---QLIAMDLPMVSGD-RI>H<CLDILFAFTKRVLGES--G---EMDALRIQ1878
SCN3A--IAK--PNKV---QLIAMDLPMVSGD-RI>H<CLDILFAFTKRVLGES--G---EMDALRIQ1873
SCN4A--IAK--PNKI---KLITLDLPMVPGD-KI>H<CLDILFALTKEVLGDS--G---EMDALKQT1700
SCN5A--IAK--PNQI---SLINMDLPMVSGD-RI>H<CMDILFAFTKRVLGES--G---EMDALKIQ1874
SCN7A--MAK--PNKG---QLIALDLPMAVGD-RI>H<CLDILLAFTKRVMGQD--V---RMEKVVSE1598
SCN8A--VPK--PNTI---ELIAMDLPMVSGD-RI>H<CLDILFAFTKRVLGDS--G---ELDILRQQ1868
SCN9A--IAK--PNKV---QLIAMDLPMVSGD-RI>H<CLDILFAFTKRVLGES--G---EMDSLRSQ1851
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1557 for CACNA1C.