Paralogue Annotation for SCN5A residue 867

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 867
Reference Amino Acid: E - Glutamate
Protein Domain: TM Domain 2


Paralogue Variants mapped to SCN5A residue 867

No paralogue variants have been mapped to residue 867 for SCN5A.



SCN5AGALGNLTLVLAIIVFIFAVVGMQLFGKNYS>E<L-RDS----D-SG---LLPRWHMMDFFHAF888
SCN1AGALGNLTLVLAIIVFIFAVVGMQLFGKSYK>D<C-VCK----I-AS-DCQLPRWHMNDFFHSF941
SCN2AGALGNLTLVLAIIVFIFAVVGMQLFGKSYK>E<C-VCK----I-SN-DCELPRWHMHDFFHSF932
SCN3AGALGNLTLVLAIIVFIFAVVGMQLFGKSYK>E<C-VCK----I-ND-DCTLPRWHMNDFFHSF933
SCN4AGALGNLTLVLAIIVFIFAVVGMQLFGKSYK>E<C-VCK----I-AL-DCNLPRWHMHDFFHSF751
SCN7AVALKDLVLLLFTFIFFSAAFGMKLFGKNYE>E<F-VCH----I-DK-DCQLPRWHMHDFFHSF678
SCN8AGALGNLTLVLAIIVFIFAVVGMQLFGKSYK>E<C-VCK----I-NQ-DCELPRWHMHDFFHSF926
SCN9AGALGNLTLVLAIIVFIFAVVGMQLFGKSYK>E<C-VCK----I-ND-DCTLPRWHMNDFFHSF906
SCN10AGALGNLTIILAIIVFVFALVGKQLLGENYR>N<N-RKN----I-SAPHEDWPRWHMHDFFHSF839
SCN11AGALGSLTVVLVIVIFIFSVVGMQLFGRSFN>S<Q-KSPKLCNPTGPTVSCLRHWHMGDFWHSF758
CACNA1AKSIISLLFLLFLFIVVFALLGMQLFGGQFN>F<D-E------------G-TPPTNFDTFPAAI658
CACNA1BKSIISLLFLLFLFIVVFALLGMQLFGGQFN>F<Q-D------------E-TPTTNFDTFPAAI654
CACNA1CRSIASLLLLLFLFIIIFSLLGMQLFGGKFN>F<D-E------------MQTRRSTFDNFPQSL696
CACNA1DKSIASLLLLLFLFIIIFSLLGMQLFGGKFN>F<D-E------------TQTKRSTFDNFPQAL715
CACNA1EKSIISLLFLLFLFIVVFALLGMQLFGGRFN>F<N-D------------G-TPSANFDTFPAAI647
CACNA1FKSIASLLLLLFLFIIIFSLLGMQLFGGKFN>F<D-Q------------THTKRSTFDTFPQAL701
CACNA1GDNVATFCMLLMLFIFIFSILGMHLFGCKFA>S<ER---------DG-DTLPDRKNFDSLLWAI913
CACNA1HDNVATFCTLLMLFIFIFSILGMHLFGCKFS>L<KTD--------TG-DTVPDRKNFDSLLWAI964
CACNA1IDNVATFCMLLMLFIFIFSILGMHIFGCKFS>L<RTD--------TG-DTVPDRKNFDSLLWAI811
CACNA1SRSIASLLLLLFLFIVIFALLGMQLFGGRYD>F<E-D------------TEVRRSNFDNFPQAL604
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.E867Qc.2599G>C Inherited ArrhythmiaBrSSIFT: deleterious
Polyphen: possibly damaging
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