Paralogue Annotation for SCN5A residue 185

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 185
Reference Amino Acid: A - Alanine
Protein Domain: TM Domain 1


Paralogue Variants mapped to SCN5A residue 185

No paralogue variants have been mapped to residue 185 for SCN5A.



SCN5A--KYVEYTFTA-IYTFESLVKILARGFCLH>A<FTFLRDPWNWLDFSVIIMAYVSENIKLG--213
SCN1A--KNVEYTFTG-IYTFESLIKIIARGFCLE>D<FTFLRDPWNWLDFTVITFAYVTEFVDLG--210
SCN2A--KNVEYTFTG-IYTFESLIKILARGFCLE>D<FTFLRDPWNWLDFTVITFAYVTEFVDLG--211
SCN3A--KNVEYTFTG-IYTFESLIKILARGFCLE>D<FTFLRDPWNWLDFSVIVMAYVTEFVDLG--210
SCN4A--KNVEYTFTG-IYTFESLIKILARGFCVD>D<FTFLRDPWNWLDFSVIMMAYLTEFVDLG--213
SCN7A--PVLENTLLG-IYTFEILVKLFARGVWAG>S<FSFLGDPWNWLDFSVTVFEVIIRYSPLD--200
SCN8A--KNVEYTFTG-IYTFESLVKIIARGFCID>G<FTFLRDPWNWLDFSVIMMAYITEFVNLG--214
SCN9A--KNVEYTFTG-IYTFESLVKILARGFCVG>E<FTFLRDPWNWLDFVVIVFAYLTEFVNLG--208
SCN10A---KIEYVFTV-IYTFEALIKILARGFCLN>E<FTYLRDPWNWLDFSVITLAYVGTAIDLR--209
SCN11A--DIAECVFTG-IYIFEALIKILARGFILD>E<FSFLRDPWNWLDSIVIGIAIVSYIPGIT--215
CACNA1ARLDDTEPYFIG-IFCFEAGIKIIALGFAFH>K<GSYLRNGWNVMDFVVVLTGILATVGTEF--189
CACNA1BRLDDTEPYFIG-IFCFEAGIKIIALGFVFH>K<GSYLRNGWNVMDFVVVLTGILATAGTDF--186
CACNA1CNLERVEYLFLI-IFTVEAFLKVIAYGLLFH>P<NAYLRNGWNLLDFIIVVVGLFSAILEQATK217
CACNA1DNLEKVEYAFLI-IFTVETFLKIIAYGLLLH>P<NAYVRNGWNLLDFVIVIVGLFSVILEQLTK219
CACNA1ERLEKTEPYFIG-IFCFEAGIKIVALGFIFH>K<GSYLRNGWNVMDFIVVLSGILATAGTHFN-181
CACNA1FNLEQVEYVFLV-IFTVETVLKIVAYGLVLH>P<SAYIRNGWNLLDFIIVVVGLFSVLLEQGPG185
CACNA1GRILQAFDDFIFAFFAVEMVVKMVALGI-FG>K<KCYLGDTWNRLDFFIVIAGMLEYSLDLQ--172
CACNA1HNILEAFDAFIFAFFAVEMVIKMVALGL-FG>Q<KCYLGDTWNRLDFFIVVAGMMEYSLDGH--191
CACNA1IKILQVFDDFIFIFFAMEMVLKMVALGI-FG>K<KCYLGDTWNRLDFFIVMAGMVEYSLDLQ--170
CACNA1SGLEKLEYFFLI-VFSIEAAMKIIAYGFLFH>Q<DAYLRSGWNVLDFTIVFLGVFTVILEQVNV144
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.A185Tc.553G>A Inherited ArrhythmiaLQTSSIFT: tolerated
Polyphen: benign
ReportsInherited ArrhythmiaLQTS Four potassium channel mutations account for 73% of the genetic spectrum underlying long-QT syndrome (LQTS) and provide evidence for a strong founder effect in Finland. Ann Med. 2004 36 Suppl 1:53-63. 15176425
Inherited ArrhythmiaLQTS Identification of Medically Actionable Secondary Findings in the 1000 Genomes. PLoS One. 2015 10(9):e0135193. doi: 10.1371/journal.pone.0135193. 26332594
p.A185Vc.554C>T Inherited ArrhythmiaBrSSIFT: deleterious
Polyphen: benign
ReportsInherited ArrhythmiaBrS An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. Heart Rhythm. 2010 7(1):33-46. 20129283