Paralogue Annotation for CACNA1C residue 1551

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1551
Reference Amino Acid: N - Asparagine
Protein Domain: C-terminus


Paralogue Variants mapped to CACNA1C residue 1551

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AV1857LGeneralised epilepsy with febrile seizures plus 2Medium6 15715999

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.



CACNA1CRIQPPLG--FGKLCPHRVACKRLVSMNMPL>N<SDG-TVMFNATLFALVRTALRIKTEG---N1577
CACNA1AVISPPLG--LGKKCPHRVACKRLLRMDLPV>A<DD-NTVHFNSTLMALIRTALDIKIAKGGAD1915
CACNA1BHMSPPLG--LGKKCPARVAYKRLVRMNMPI>S<NEDMTVHFTSTLMALIRTALEIKLAPAGTK1814
CACNA1DRIQPPLG--FGKLCPHRVACKRLVAMNMPL>N<SDG-TVMFNATLFALVRTALKIKTEG---N1585
CACNA1ELMSPPLG--LGKRCPSKVAYKRLVLMNMPV>A<ED-MTVHFTSTLMALIRTALDIKIAKGGAD1827
CACNA1FRIQPPLG--FGKLCPHRVACKRLVAMNMPL>N<SDG-TVTFNATLFALVRTSLKIKTEG---N1542
CACNA1GGVEGPDS--PDSPKPGAL---------HPA>A<HA-RSASHFSLEHPTDRQLFDTI---S--L1937
CACNA1H----PLP--QESPG--AR--------DAPN>-<--------------LVARKV----------1919
CACNA1I---GPGGAGGGGDT--EG---GLCRRCYSP>A<QE-N--LWLDSVSLIIKDSL----------1814
CACNA1SRIQPPLG--FGKFCPHRVACKRLVGMNMPL>N<SDG-TVTFNATLFALVRTALKIKTEG---N1482
SCN10ATLSGPLR--IPK--PNRN---ILIQMDLPL>V<PGD-KIHCLDILFAFTKNVLGES--G---E1817
SCN11AALPEPLR--VAK--PNKY---QFLVMDLPM>V<SED-RLHCMDILFAFTARVLGGS--D---G1699
SCN1AALEPPLN--LPQ--PNKL---QLIAMDLPM>V<SGD-RIHCLDILFAFTKRVLGES--G---E1881
SCN2AALDPPLL--IAK--PNKV---QLIAMDLPM>V<SGD-RIHCLDILFAFTKRVLGES--G---E1871
SCN3AALDPPLL--IAK--PNKV---QLIAMDLPM>V<SGD-RIHCLDILFAFTKRVLGES--G---E1866
SCN4ATLQEPLR--IAK--PNKI---KLITLDLPM>V<PGD-KIHCLDILFALTKEVLGDS--G---E1693
SCN5AALSEPLR--IAK--PNQI---SLINMDLPM>V<SGD-RIHCMDILFAFTKRVLGES--G---E1867
SCN7AALDPPLF--MAK--PNKG---QLIALDLPM>A<VGD-RIHCLDILLAFTKRVMGQD--V---R1591
SCN8AALEHPLR--VPK--PNTI---ELIAMDLPM>V<SGD-RIHCLDILFAFTKRVLGDS--G---E1861
SCN9AALDPPLL--IAK--PNKV---QLIAMDLPM>V<SGD-RIHCLDILFAFTKRVLGES--G---E1844
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1551 for CACNA1C.