Paralogue Annotation for SCN5A residue 339

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 339
Reference Amino Acid: Y - Tyrosine
Protein Domain: TM Domain 1


Paralogue Variants mapped to SCN5A residue 339

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AY349CDravet syndromeHigh7 24168886

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.



SCN5AENYLLKNGTSDVLLCGNSSDAG-T-C-PEG>Y<RCLKAGENPDHGYTSFDSFAWAFLALFRLM369
SCN1ARYHYFLEGFLDALLCGNSSDAG-Q-C-PEG>Y<MCVKAGRNPNYGYTSFDTFSWAFLSLFRLM379
SCN2ASHFYFLEGQNDALLCGNSSDAG-Q-C-PEG>Y<ICVKAGRNPNYGYTSFDTFSWAFLSLFRLM381
SCN3ASHFYVLDGQKDPLLCGNGSDAG-Q-C-PEG>Y<ICVKAGRNPNYGYTSFDTFSWAFLSLFRLM380
SCN4AGNFYFLEGSNDALLCGNSSDAG-H-C-PEG>Y<ECIKTGRNPNYGYTSYDTFSWAFLALFRLM403
SCN7AENFYYLEGERYALLCGNRTDAG-Q-C-PEG>Y<VCVKAGINPDQGFTNFDSFGWALFALFRLM350
SCN8ATNFYTVPGMLEPLLCGNSSDAG-Q-C-PEG>Y<QCMKAGRNPNYGYTSFDTFSWAFLALFRLM367
SCN9AKYFYYLEGSKDALLCGFSTDSG-Q-C-PEG>Y<TCVKIGRNPDYGYTSFDTFSWAFLALFRLM358
SCN10ADIYINKRGTSDPLLCGNGSDSG-H-C-PDG>Y<ICLKTSDNPDFNYTSFDSFAWAFLSLFRLM353
SCN11AHCFEKKENSPEFKMCGIWMGNS-A-C-SIQ>Y<ECKHTKINPDYNYTNFDNFGWSFLAMFRLM356
CACNA1A-------E--SPAPCGTEEPA-RT-C-PNG>T<KCQPYWEGPNNGITQFDNILFAVLTVFQCI315
CACNA1B-------V--GDFPCGKEAPA-RL-C-EGD>T<ECREYWPGPNFGITNFDNILFAILTVFQCI311
CACNA1C-------D--DPSPCALETGHGRQ-CQN-G>T<VCKPGWDGPKHGITNFDNFAFAMLTVFQCI360
CACNA1D-------E--DPAPCAFSGNGR-Q-CTANG>T<ECRSGWVGPNGGITNFDNFAFAMLTVFQCI361
CACNA1E-------D--PPHPCGVQG------C-PAG>Y<EC-KDWIGPNDGITQFDNILFAVLTVFQCI306
CACNA1F-------E--DPSPCASSGSGR-A-CTLNQ>T<ECRGRWPGPNGGITNFDNFFFAMLTVFQCV327
CACNA1GDYEAYNS---------SSNTTC-VNWNQYY>T<NCSAGEHNPFKGAINFDNIGYAWIAIFQVI351
CACNA1HGWEAYTQP--QAEGVGAARNAC-INWNQYY>N<VCRSGDSNPHNGAINFDNIGYAWIAIFQVI375
CACNA1IKDDVYDFG--AGRQDLNASGLC-VNWNRYY>N<VCRTGSANPHKGAINFDNIGYAWIVIFQVI354
CACNA1S-------E--EPSPCARTGSGR-R-CTING>S<ECRGGWPGPNHGITHFDNFGFSMLTVYQCI289
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 339 for SCN5A.