Paralogue Annotation for CACNA1C residue 1550

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1550
Reference Amino Acid: L - Leucine
Protein Domain: C-terminus


Paralogue Variants mapped to CACNA1C residue 1550

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AM1856TGeneralized epilepsy with febrile seizures plusMedium8 18076640

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.



CACNA1CRRIQPPLG--FGKLCPHRVACKRLVSMNMP>L<NSDG-TVMFNATLFALVRTALRIKTEG---1576
CACNA1ARVISPPLG--LGKKCPHRVACKRLLRMDLP>V<ADD-NTVHFNSTLMALIRTALDIKIAKGGA1914
CACNA1BKHMSPPLG--LGKKCPARVAYKRLVRMNMP>I<SNEDMTVHFTSTLMALIRTALEIKLAPAGT1813
CACNA1DRRIQPPLG--FGKLCPHRVACKRLVAMNMP>L<NSDG-TVMFNATLFALVRTALKIKTEG---1584
CACNA1ETLMSPPLG--LGKRCPSKVAYKRLVLMNMP>V<AED-MTVHFTSTLMALIRTALDIKIAKGGA1826
CACNA1FRRIQPPLG--FGKLCPHRVACKRLVAMNMP>L<NSDG-TVTFNATLFALVRTSLKIKTEG---1541
CACNA1GPGVEGPDS--PDSPKPGAL---------HP>A<AHA-RSASHFSLEHPTDRQLFDTI---S--1936
CACNA1H-----PLP--QESPG--AR--------DAP>N<---------------LVARKV---------1919
CACNA1IR---GPGGAGGGGDT--EG---GLCRRCYS>P<AQE-N--LWLDSVSLIIKDSL---------1814
CACNA1SRRIQPPLG--FGKFCPHRVACKRLVGMNMP>L<NSDG-TVTFNATLFALVRTALKIKTEG---1481
SCN10ADTLSGPLR--IPK--PNRN---ILIQMDLP>L<VPGD-KIHCLDILFAFTKNVLGES--G---1816
SCN11ADALPEPLR--VAK--PNKY---QFLVMDLP>M<VSED-RLHCMDILFAFTARVLGGS--D---1698
SCN1AAALEPPLN--LPQ--PNKL---QLIAMDLP>M<VSGD-RIHCLDILFAFTKRVLGES--G---1880
SCN2ADALDPPLL--IAK--PNKV---QLIAMDLP>M<VSGD-RIHCLDILFAFTKRVLGES--G---1870
SCN3AAALDPPLL--IAK--PNKV---QLIAMDLP>M<VSGD-RIHCLDILFAFTKRVLGES--G---1865
SCN4ADTLQEPLR--IAK--PNKI---KLITLDLP>M<VPGD-KIHCLDILFALTKEVLGDS--G---1692
SCN5ADALSEPLR--IAK--PNQI---SLINMDLP>M<VSGD-RIHCMDILFAFTKRVLGES--G---1866
SCN7AAALDPPLF--MAK--PNKG---QLIALDLP>M<AVGD-RIHCLDILLAFTKRVMGQD--V---1590
SCN8ADALEHPLR--VPK--PNTI---ELIAMDLP>M<VSGD-RIHCLDILFAFTKRVLGDS--G---1860
SCN9AAALDPPLL--IAK--PNKV---QLIAMDLP>M<VSGD-RIHCLDILFAFTKRVLGES--G---1843
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1550 for CACNA1C.