Paralogue Annotation for CACNA1C residue 1522

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1522
Reference Amino Acid: R - Arginine
Protein Domain: TM domain 4


Paralogue Variants mapped to CACNA1C residue 1522

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AD1819NLong QT syndromeMedium9 16922724, 22685113

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.



CACNA1CHHLDEFKRIWAEYDPEAKGRIKHLDVVTLL>R<RIQPPLG--FGKLCPHRVACKRLVSMNMPL1550
CACNA1AHHLDEYVRVWAEYDPAACGRIHYKDMYSLL>R<VISPPLG--LGKKCPHRVACKRLLRMDLPV1885
CACNA1BHHLDEFIRVWAEYDPAACGRISYNDMFEML>K<HMSPPLG--LGKKCPARVAYKRLVRMNMPI1783
CACNA1DHHLDEFKRIWSEYDPEAKGRIKHLDVVTLL>R<RIQPPLG--FGKLCPHRVACKRLVAMNMPL1558
CACNA1EHHLDEFVRVWAEYDRAACGRIHYTEMYEML>T<LMSPPLG--LGKRCPSKVAYKRLVLMNMPV1797
CACNA1FHHLDEFKRIWSEYDPGAKGRIKHLDVVALL>R<RIQPPLG--FGKLCPHRVACKRLVAMNMPL1515
CACNA1GAELEAELELEMKT-LSPQPHSPLGSPF-LW>P<GVEGPDS--PDSPKPGAL---------HPA1912
CACNA1HAELDAEIELEMAQGPGSARRVDADRP---->-<----PLP--QESPG--AR--------DAPN1913
CACNA1IAEMDAELELEMAHGLGPGPRLPTGSPGAPG>R<---GPGGAGGGGDT--EG---GLCRRCYSP1796
CACNA1SHHLDEFKAIWAEYDPEAKGRIKHLDVVTLL>R<RIQPPLG--FGKFCPHRVACKRLVGMNMPL1455
SCN10ADDFDMFYETWEKFDPEATQFITFSALSDFA>D<TLSGPLR--IPK--PNRN---ILIQMDLPL1792
SCN11ADDFDIFYEVWEKFDPEATQFIKYSALSDFA>D<ALPEPLR--VAK--PNKY---QFLVMDLPM1674
SCN1ADDFEMFYEVWEKFDPDATQFMEFEKLSQFA>A<ALEPPLN--LPQ--PNKL---QLIAMDLPM1856
SCN2ADDFEMFYEVWEKFDPDATQFIEFAKLSDFA>D<ALDPPLL--IAK--PNKV---QLIAMDLPM1846
SCN3ADDFEMFYEVWEKFDPDATQFIEFSKLSDFA>A<ALDPPLL--IAK--PNKV---QLIAMDLPM1841
SCN4ADDFEMFYETWEKFDPDATQFIAYSRLSDFV>D<TLQEPLR--IAK--PNKI---KLITLDLPM1668
SCN5ADDFDMFYEIWEKFDPEATQFIEYSVLSDFA>D<ALSEPLR--IAK--PNQI---SLINMDLPM1842
SCN7ADDFRKFFQVWKRFDPDRTQYIDSSKLSDFA>A<ALDPPLF--MAK--PNKG---QLIALDLPM1566
SCN8ADDFETFYEIWEKFDPDATQFIEYCKLADFA>D<ALEHPLR--VPK--PNTI---ELIAMDLPM1836
SCN9ADDFEMFYEVWEKFDPDATQFIEFSKLSDFA>A<ALDPPLL--IAK--PNKV---QLIAMDLPM1819
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R1522Qc.4565G>A Other Disease PhenotypeSIFT:
Polyphen:
ReportsOther Disease Phenotype Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing. Am J Hum Genet. 2013 93(2):249-63. doi: 10.1016/j.ajhg.2013.06.012. 23849776