Paralogue Annotation for CACNA1C residue 1217

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1217
Reference Amino Acid: N - Asparagine
Protein Domain: Interdomain Linker III-IV


Paralogue Variants mapped to CACNA1C residue 1217

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AT1539PDravet syndromeMedium9 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.



CACNA1CARP-------LRRYIPK--NQHQYKVWYVV>N<STYFEYLMFVLILLNTICLAMQHYGQSCLF1247
CACNA1AAKP-------LTRHMPQNKQSFQYRMWQFV>V<SPPFEYTIMAMIALNTIVLMMKFYGASVAY1594
CACNA1BAKP-------LTRYMPQNRQSFQYKTWTFV>V<SPPFEYFIMAMIALNTVVLMMKFYDAPYEY1500
CACNA1DARP-------LRRYIPK--NPYQYKFWYVV>N<SSPFEYMMFVLIMLNTLCLAMQHYEQSKMF1253
CACNA1EAKP-------LTRYMPQNRHTFQYRVWHFV>V<SPSFEYTIMAMIALNTVVLMMKYYSAPCTY1506
CACNA1FAQP-------LRRYIPK--NPHQYRVWATV>N<SAAFEYLMFLLILLNTVALAMQHYEQTAPF1218
CACNA1GGSSASAASEAQCKPYYSDYSRFRLLVHHLC>T<SHYLDLFITGVIGLNVVTMAMEHYQQPQIL1639
CACNA1HAQ---------RRPYYADYSPTRRSIHSLC>T<SHYLDLFITFIICVNVITMSMEHYNQPKSL1645
CACNA1IAQ---------RLPYYATYCHTRLLIHSMC>T<SHYLDIFITFIICLNVVTMSLEHYNQPTSL1515
CACNA1SARP-------LRCYIPK--NPYQYQVWYIV>T<SSYFEYLMFALIMLNTICLGMQHYNQSEQM1146
SCN10AKKP--------QKPIPRPLNKFQGFVFDIV>T<RQAFDITIMVLICLNMITMMVETDDQSEEK1504
SCN11AKKP--------QKPIPRPLNKCQGLVFDIV>T<SQIFDIIIISLIILNMISMMAESYNQPKAM1394
SCN1AKKP--------QKPIPRPGNKFQGMVFDFV>T<RQVFDISIMILICLNMVTMMVETDDQSEYV1569
SCN2AKKP--------QKPIPRPANKFQGMVFDFV>T<KQVFDISIMILICLNMVTMMVETDDQSQEM1559
SCN3AKKP--------QKPIPRPANKFQGMVFDFV>T<RQVFDISIMILICLNMVTMMVETDDQGKYM1554
SCN4AKKP--------QKPIPRPQNKIQGMVYDLV>T<KQAFDITIMILICLNMVTMMVETDNQSQLK1381
SCN5AKKP--------QKPIPRPLNKYQGFIFDIV>T<KQAFDVTIMFLICLNMVTMMVETDDQSPEK1556
SCN7AEDS--------QRPVPRPLNKLQGFIFDVV>T<SQAFNVIVMVLICFQAIAMMIDTDVQSLQM1279
SCN8AKKP--------QKPIPRPLNKIQGIVFDFV>T<QQAFDIVIMMLICLNMVTMMVETDTQSKQM1550
SCN9AKKP--------QKPIPRPGNKIQGCIFDLV>T<NQAFDISIMVLICLNMVTMMVEKEGQSQHM1532
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1217 for CACNA1C.