Paralogue Annotation for SCN5A residue 1619

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1619
Reference Amino Acid: P - Proline
Protein Domain: TM Domain 4


Paralogue Variants mapped to SCN5A residue 1619

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AP1632SMyoclonic epilepsy of infancyHigh6 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 SCN5A.



SCN5AIIQ----------------------KYFFS>P<TLFRVIRLARIGRILRLIRGAKGIRTLLFA1649
SCN1ALIE----------------------KYFVS>P<TLFRVIRLARIGRILRLIKGAKGIRTLLFA1662
SCN2ALIE----------------------KYFVS>P<TLFRVIRLARIGRILRLIKGAKGIRTLLFA1652
SCN3AMIE----------------------KYFVS>P<TLFRVIRLARIGRILRLIKGAKGIRTLLFA1647
SCN4ALIQ----------------------KYFVS>P<TLFRVIRLARIGRVLRLIRGAKGIRTLLFA1474
SCN7ATVG----------------------SYLVP>P<SLVQLILLSRIIHMLRLGKGPKVFHNLMLP1372
SCN8AIIE----------------------KYFVS>P<TLFRVIRLARIGRILRLIKGAKGIRTLLFA1643
SCN9ALIE----------------------TYFVS>P<TLFRVIRLARIGRILRLVKGAKGIRTLLFA1625
SCN10AILKS--------------------LQSYFS>P<TLFRVIRLARIGRILRLIRAAKGIRTLLFA1599
SCN11ALENQ--------------------EHIPFP>P<TLFRIVRLARIGRILRLVRAARGIRTLLFA1489
CACNA1AFGNN-----------------------FIN>L<SFLRLFRA---ARLIKLLRQGYTIRILLWT1684
CACNA1BIAET---------------------NNFIN>L<SFLRLFRA---ARLIKLLRQGYTIRILLWT1592
CACNA1CVNPAE----HTQ----CSPSMNAEENSRIS>I<TFFRLFRV---MRLVKLLSRGEGIRTLLWT1352
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
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.P1619Qc.4856C>A Putative BenignSIFT:
Polyphen: