Paralogue Annotation for CACNA1C residue 1325

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1325
Reference Amino Acid: I - Isoleucine
Protein Domain: TM domain 4


Paralogue Variants mapped to CACNA1C residue 1325

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AP1632SMyoclonic epilepsy of infancyMedium6 12566275, 16210358

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.



CACNA1CVNPAE----HTQ----CSPSMNAEENSRIS>I<TFFRLFRV---MRLVKLLSRGEGIRTLLWT1352
CACNA1AFGNN-----------------------FIN>L<SFLRLFRA---ARLIKLLRQGYTIRILLWT1684
CACNA1BIAET---------------------NNFIN>L<SFLRLFRA---ARLIKLLRQGYTIRILLWT1592
CACNA1DADPTE----SENVPVPTATPGNSEESNRIS>I<TFFRLFRV---MRLVKLLSRGEGIRTLLWT1362
CACNA1ESKLV--------------------NTSGFN>M<SFLKLFRA---ARLIKLLRQGYTIRILLWT1599
CACNA1FVNNGG----HLG----E----SSEDSSRIS>I<TFFRLFRV---MRLVKLLSKGEGIRTLLWT1319
CACNA1GIEVN--------------------ASLPIN>P<TIIRIMRVLRIARVLKLLKMAVGMRALLDT1735
CACNA1HIEMS--------------------AALPIN>P<TIIRIMRVLRIARVLKLLKMATGMRALLDT1741
CACNA1IIEIN--------------------AALPIN>P<TIIRIMRVLRIARVLKLLKMATGMRALLDT1611
CACNA1SIDTFLASSGGLYCLGGGCGNVDPDESARIS>S<AFFRLFRV---MRLIKLLSRAEGVRTLLWT1259
SCN10AILKS--------------------LQSYFS>P<TLFRVIRLARIGRILRLIRAAKGIRTLLFA1599
SCN11ALENQ--------------------EHIPFP>P<TLFRIVRLARIGRILRLVRAARGIRTLLFA1489
SCN1ALIE----------------------KYFVS>P<TLFRVIRLARIGRILRLIKGAKGIRTLLFA1662
SCN2ALIE----------------------KYFVS>P<TLFRVIRLARIGRILRLIKGAKGIRTLLFA1652
SCN3AMIE----------------------KYFVS>P<TLFRVIRLARIGRILRLIKGAKGIRTLLFA1647
SCN4ALIQ----------------------KYFVS>P<TLFRVIRLARIGRVLRLIRGAKGIRTLLFA1474
SCN5AIIQ----------------------KYFFS>P<TLFRVIRLARIGRILRLIRGAKGIRTLLFA1649
SCN7ATVG----------------------SYLVP>P<SLVQLILLSRIIHMLRLGKGPKVFHNLMLP1372
SCN8AIIE----------------------KYFVS>P<TLFRVIRLARIGRILRLIKGAKGIRTLLFA1643
SCN9ALIE----------------------TYFVS>P<TLFRVIRLARIGRILRLVKGAKGIRTLLFA1625
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1325 for CACNA1C.