Paralogue Annotation for CACNA1C residue 130

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 130
Reference Amino Acid: I - Isoleucine
Protein Domain: TM domain 1


Paralogue Variants mapped to CACNA1C residue 130

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AI137MArrhythmogenic right ventricular dysplasiaHigh9 24317018

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.



CACNA1CPPRALLCLTLKNPIRRACISIVEWKPFEII>I<LLTIFANCVALAIYIPFPEDDSNATNSNLE160
CACNA1AVNRSLFLFSEDNVVRKYAKKITEWPPFEYM>I<LATIIANCIVLALEQHLPDDDKTPMSERLD134
CACNA1BVNRSLFVFSEDNVVRKYAKRITEWPPFEYM>I<LATIIANCIVLALEQHLPDGDKTPMSERLD131
CACNA1DPARALFCLSLNNPIRRACISIVEWKPFDIF>I<LLAIFANCVALAIYIPFPEDDSNSTNHNLE162
CACNA1EVNRSLFIFGEDNIVRKYAKKLIDWPPFEYM>I<LATIIANCIVLALEQHLPEDDKTPMSRRLE125
CACNA1FSPRALFCLTLANPLRRSCISIVEWKPFDIL>I<LLTIFANCVALGVYIPFPEDDSNTANHNLE128
CACNA1GAPVVFFYLSQDSRPRSWCLRTVCNPWFERI>S<MLVILLNCVTLGMFRPCEDIACDSQRCRIL117
CACNA1HAATVFFCLGQTTRPRSWCLRLVCNPWFEHV>S<MLVIMLNCVTLGMFRPCEDVECGSERCNIL136
CACNA1IAPIAFFCLRQTTSPRNWCIKMVCNPWFECV>S<MLVILLNCVTLGMYQPCDDMDCLSDRCKIL115
CACNA1SPPRALFCLTLENPLRKACISIVEWKPFETI>I<LLTIFANCVALAVYLPMPEDDNNSLNLGLE87
SCN10AATRALWLFSPFNLIRRTAIKVSVHSWFSLF>I<TVTILVNCVCMTRT------D-LPE-----154
SCN11AAKHALFIFGPFNSIRSLAIRVSVHSLFSMF>I<IGTVIINCVFMATGPA-K--NSNSNNT--D160
SCN1AATSALYILTPFNPLRKIAIKILVHSLFSML>I<MCTILTNCVFMTMS------N-PPDWT--K155
SCN2AATPALYILTPFNPIRKLAIKILVHSLFNML>I<MCTILTNCVFMTMS------N-PPDWT--K156
SCN3AATSALYILTPLNPVRKIAIKILVHSLFSML>I<MCTILTNCVFMTLS------N-PPDWT--K155
SCN4AATPALYLLSPFSVVRRGAIKVLIHALFSMF>I<MITILTNCVFMTMS------D-PPPWS--K158
SCN5AATNALYVLSPFHPIRRAAVKILVHSLFNML>I<MCTILTNCVFMAQH------D-PPPWT--K158
SCN7AAASILCTLSPFNCIRRTTIKVLVHPFFQLF>I<LISVLIDCVFMSLT------N-LPKWR--P145
SCN8AATPALYILSPFNLIRRIAIKILIHSVFSMI>I<MCTILTNCVFMTFS------N-PPDWS--K159
SCN9AATPALYMLSPFSPLRRISIKILVHSLFSML>I<MCTILTNCIFMTMN------N-PPDWT--K153
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 130 for CACNA1C.