Paralogue Annotation for CACNA1C residue 1353

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1353
Reference Amino Acid: F - Phenylalanine
Protein Domain: TM domain 4


Paralogue Variants mapped to CACNA1C residue 1353

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AL1650FLong QT syndromeMedium9 19716085
SCN5AL1650HSudden unexplained deathMedium9 24631775

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.



CACNA1CTFFRLFRV---MRLVKLLSRGEGIRTLLWT>F<IKSFQALPYVALLIVMLFFIYAVIGMQVFG1383
CACNA1ASFLRLFRA---ARLIKLLRQGYTIRILLWT>F<VQSFKALPYVCLLIAMLFFIYAIIGMQVFG1715
CACNA1BSFLRLFRA---ARLIKLLRQGYTIRILLWT>F<VQSFKALPYVCLLIAMLFFIYAIIGMQVFG1623
CACNA1DTFFRLFRV---MRLVKLLSRGEGIRTLLWT>F<IKSFQALPYVALLIAMLFFIYAVIGMQMFG1393
CACNA1ESFLKLFRA---ARLIKLLRQGYTIRILLWT>F<VQSFKALPYVCLLIAMLFFIYAIIGMQVFG1630
CACNA1FTFFRLFRV---MRLVKLLSKGEGIRTLLWT>F<IKSFQALPYVALLIAMIFFIYAVIGMQMFG1350
CACNA1GTIIRIMRVLRIARVLKLLKMAVGMRALLDT>V<MQALPQVGNLGLLFMLLFFIFAALGVELFG1766
CACNA1HTIIRIMRVLRIARVLKLLKMATGMRALLDT>V<VQALPQVGNLGLLFMLLFFIYAALGVELFG1772
CACNA1ITIIRIMRVLRIARVLKLLKMATGMRALLDT>V<VQALPQVGNLGLLFMLLFFIYAALGVELFG1642
CACNA1SAFFRLFRV---MRLIKLLSRAEGVRTLLWT>F<IKSFQALPYVALLIVMLFFIYAVIGMQMFG1290
SCN10ATLFRVIRLARIGRILRLIRAAKGIRTLLFA>L<MMSLPALFNIGLLLFLVMFIYSIFGMSSFP1630
SCN11ATLFRIVRLARIGRILRLVRAARGIRTLLFA>L<MMSLPSLFNIGLLLFLIMFIYAILGMNWFS1520
SCN1ATLFRVIRLARIGRILRLIKGAKGIRTLLFA>L<MMSLPALFNIGLLLFLVMFIYAIFGMSNFA1693
SCN2ATLFRVIRLARIGRILRLIKGAKGIRTLLFA>L<MMSLPALFNIGLLLFLVMFIYAIFGMSNFA1683
SCN3ATLFRVIRLARIGRILRLIKGAKGIRTLLFA>L<MMSLPALFNIGLLLFLVMFIYAIFGMSNFA1678
SCN4ATLFRVIRLARIGRVLRLIRGAKGIRTLLFA>L<MMSLPALFNIGLLLFLVMFIYSIFGMSNFA1505
SCN5ATLFRVIRLARIGRILRLIRGAKGIRTLLFA>L<MMSLPALFNIGLLLFLVMFIYSIFGMANFA1680
SCN7ASLVQLILLSRIIHMLRLGKGPKVFHNLMLP>L<MLSLPALLNIILLIFLVMFIYAVFGMYNFA1403
SCN8ATLFRVIRLARIGRILRLIKGAKGIRTLLFA>L<MMSLPALFNIGLLLFLVMFIFSIFGMSNFA1674
SCN9ATLFRVIRLARIGRILRLVKGAKGIRTLLFA>L<MMSLPALFNIGLLLFLVMFIYAIFGMSNFA1656
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1353 for CACNA1C.