Paralogue Annotation for SCN5A residue 1470

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1470
Reference Amino Acid: I - Isoleucine
Protein Domain: TM Domain 3


Paralogue Variants mapped to SCN5A residue 1470

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN2AI1473MNeonatal-infantile seizuresHigh9 19786696, 25525159
SCN1AI1483MEpilepsy ?High9 21248271
CACNA1CI1166TTimothy syndromeHigh9 24960393, 25260352, 25260352, 25633834, 25633834, 26795593
CACNA1CI1166VLong QT, non-syndromicHigh9 25633834, 25633834

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 SCN5A.



SCN5AWEYNLYMYIYFVIFIIFGSFFTLNLFIGVI>I<DNFNQQKKKLGGQDIFMTEEQKKYY-----1495
SCN1AYEESLYMYLYFVIFIIFGSFFTLNLFIGVI>I<DNFNQQKKKFGGQDIFMTEEQKKYY-----1508
SCN2AYEDNLYMYLYFVIFIIFGSFFTLNLFIGVI>I<DNFNQQKKKFGGQDIFMTEEQKKYY-----1498
SCN3AYEENLYMYLYFVIFIIFGSFFTLNLFIGVI>I<DNFNQQKKKFGGQDIFMTEEQKKYY-----1493
SCN4AYEVNLYMYLYFVIFIIFGSFFTLNLFIGVI>I<DNFNQQKKKLGGKDIFMTEEQKKYY-----1320
SCN7AFEVNIYMYCYFINFIIFGVFLPLSMLITVI>I<DNFNKHKIKLGGSNIFITVKQRKQY-----1218
SCN8AYEDNIYMYIYFVIFIIFGSFFTLNLFIGVI>I<DNFNQQKKKFGGQDIFMTEEQKKYY-----1489
SCN9AYEYSLYMYIYFVVFIIFGSFFTLNLFIGVI>I<DNFNQQKKKLGGQDIFMTEEQKKYY-----1471
SCN10AWEDNVYMYLYFVIFIIFGGFFTLNLFVGVI>I<DNFNQQKKKLGGQDIFMTEEQKKYY-----1443
SCN11AFESNSLGYIYFVVFIIFGSFFTLNLFIGVI>I<DNFNQQQKKLGGQDIFMTEEQKKYY-----1333
CACNA1APGYRMEMSIFYVVYFVVFPFFFVNIFVALI>I<ITFQEQGDKM----MEEYSLEKNER-----1532
CACNA1BPGYRMELSIFYVVYFVVFPFFFVNIFVALI>I<ITFQEQGDKV----MSECSLEKNER-----1438
CACNA1CYNYRVEISIFFIIYIIIIAFFMMNIFVGFV>I<VTFQEQGEQE----YKNCELDKNQR-----1187
CACNA1DYNHRVEISIFFIIYIIIVAFFMMNIFVGFV>I<VTFQEQGEKE----YKNCELDKNQR-----1193
CACNA1ERSNRMEMSIFYVVYFVVFPFFFVNIFVALI>I<ITFQEQGDKM----MEECSLEKNER-----1444
CACNA1FYNYRVEISVFFIVYIIIIAFFMMNIFVGFV>I<ITFRAQGEQE----YQNCELDKNQR-----1158
CACNA1GMNHNPWMLLYFISFLLIVAFFVLNMFVGVV>V<ENFHKCRQHQEEEEARRREEKRLRRLEKKR1567
CACNA1HQNHNPWMLLYFISFLLIVSFFVLNMFVGVV>V<ENFHKCRQHQEAEEARRREEK---------1576
CACNA1ITNHNPWMLLYFISFLLIVSFFVLNMFVGVV>V<ENFHKCRQHQEAEEARRREEK---------1452
CACNA1SYNNRVEMAIFFIIYIILIAFFMMNIFVGFV>I<VTFQEQGETE----YKNCELDKNQR-----1086
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Ile1470Thrc.4409T>C UnknownSIFT:
Polyphen: