Paralogue Annotation for SCN5A residue 349

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 349
Reference Amino Acid: D - Aspartate
Protein Domain: TM Domain 1


Paralogue Variants mapped to SCN5A residue 349

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AN359SDravet syndrome C ?Medium9 21248271, 24168886
SCN1AN359TDravet syndromeMedium9 23708187
SCN1AN359IDravet syndromeMedium9 23808377

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.



SCN5ADVLLCGNSSDAG-T-C-PEGYRCLKAGENP>D<HGYTSFDSFAWAFLALFRLMTQDCWERLYQ379
SCN1ADALLCGNSSDAG-Q-C-PEGYMCVKAGRNP>N<YGYTSFDTFSWAFLSLFRLMTQDFWENLYQ389
SCN2ADALLCGNSSDAG-Q-C-PEGYICVKAGRNP>N<YGYTSFDTFSWAFLSLFRLMTQDFWENLYQ391
SCN3ADPLLCGNGSDAG-Q-C-PEGYICVKAGRNP>N<YGYTSFDTFSWAFLSLFRLMTQDYWENLYQ390
SCN4ADALLCGNSSDAG-H-C-PEGYECIKTGRNP>N<YGYTSYDTFSWAFLALFRLMTQDYWENLFQ413
SCN7AYALLCGNRTDAG-Q-C-PEGYVCVKAGINP>D<QGFTNFDSFGWALFALFRLMAQDYPEVLYH360
SCN8AEPLLCGNSSDAG-Q-C-PEGYQCMKAGRNP>N<YGYTSFDTFSWAFLALFRLMTQDYWENLYQ377
SCN9ADALLCGFSTDSG-Q-C-PEGYTCVKIGRNP>D<YGYTSFDTFSWAFLALFRLMTQDYWENLYQ368
SCN10ADPLLCGNGSDSG-H-C-PDGYICLKTSDNP>D<FNYTSFDSFAWAFLSLFRLMTQDSWERLYQ363
SCN11AEFKMCGIWMGNS-A-C-SIQYECKHTKINP>D<YNYTNFDNFGWSFLAMFRLMTQDSWEKLYQ366
CACNA1ASPAPCGTEEPA-RT-C-PNGTKCQPYWEGP>N<NGITQFDNILFAVLTVFQCITMEGWTDLLY325
CACNA1BGDFPCGKEAPA-RL-C-EGDTECREYWPGP>N<FGITNFDNILFAILTVFQCITMEGWTDILY321
CACNA1CDPSPCALETGHGRQ-CQN-GTVCKPGWDGP>K<HGITNFDNFAFAMLTVFQCITMEGWTDVLY370
CACNA1DDPAPCAFSGNGR-Q-CTANGTECRSGWVGP>N<GGITNFDNFAFAMLTVFQCITMEGWTDVLY371
CACNA1EPPHPCGVQG------C-PAGYEC-KDWIGP>N<DGITQFDNILFAVLTVFQCITMEGWTTVLY316
CACNA1FDPSPCASSGSGR-A-CTLNQTECRGRWPGP>N<GGITNFDNFFFAMLTVFQCVTMEGWTDVLY337
CACNA1G------SSNTTC-VNWNQYYTNCSAGEHNP>F<KGAINFDNIGYAWIAIFQVITLEGWVDIMY361
CACNA1HQAEGVGAARNAC-INWNQYYNVCRSGDSNP>H<NGAINFDNIGYAWIAIFQVITLEGWVDIMY385
CACNA1IAGRQDLNASGLC-VNWNRYYNVCRTGSANP>H<KGAINFDNIGYAWIVIFQVITLEGWVEIMY364
CACNA1SEPSPCARTGSGR-R-CTINGSECRGGWPGP>N<HGITHFDNFGFSMLTVYQCITMEGWTDVLY299
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.D349Nc.1045G>A Other Cardiac PhenotypeSIFT: tolerated
Polyphen: probably damaging
ReportsOther Cardiac Phenotype Autosomal recessive paediatric sick sinus syndrome associated with novel compound mutations in SCN5A. Int J Cardiol. 2012 23200271