Paralogue Annotation for SCN5A residue 279

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 279
Reference Amino Acid: K - Lysine
Protein Domain: TM Domain 1


Paralogue Variants mapped to SCN5A residue 279

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AK276QDravet syndromeHigh9 26096185

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.



SCN5AKLADVMVLTVFCLSVFALIGLQLFMGNLRH>K<CVR--------------------NFTALN-288
SCN1AKLSDVMILTVFCLSVFALIGLQLFMGNLRN>K<CIQ-WP-PTNASLEEH-SI-EKNITVNYN-301
SCN2AKLSDVMILTVFCLSVFALIGLQLFMGNLRN>K<CLQ-WP-PDNSSFEIN-ITSFFNNSLDGN-303
SCN3AKLSDVMILTVFCLSVFALIGLQLFMGNLRN>K<CLQ-WP-PSDSAFETN-TTSYFNGTMDSN-302
SCN4AKLSDVMILTVFCLSVFALVGLQLFMGNLRQ>K<CVR-WP-PPFN--DTN-TTWYSNDTWYGN-303
SCN7AQLIGVIILTLFFLSIFSLIGMGLFMGNLKH>K<CFR-WP-QENE-----------------N-276
SCN8AKLSDVMILTVFCLSVFALIGLQLFMGNLRN>K<CVV-WP-------------------INFN-289
SCN9AKLSDVMILTVFCLSVFALIGLQLFMGNLKH>K<CFR-NS-------------------LENN-283
SCN10AKLADVTILTIFCLSVFALVGLQLFKGNLKN>K<CVK-N-------------------DMAVN-284
SCN11AKLVNVIILTFFCLSIFALVGQQLFMGSLNL>K<CIS-R-------------------DCK-N-290
CACNA1APLLQIGLLLFFAILIFAIIGLEFYMGKFHT>T<CFE-E-GTD------------DI-----Q-265
CACNA1BPLLQIGLLLFFAILMFAIIGLEFYMGKFHK>A<CFP-N-STD------------A------E-261
CACNA1CPLLHIALLVLFVIIIYAIIGLELFMGKMHK>T<CYNQEGIAD-------------V----PA-309
CACNA1DPLLHIALLVLFVIIIYAIIGLELFIGKMHK>T<CFF-A-DSD-------------I----VA-310
CACNA1EPLLQIGLLLFFAILMFAIIGLEFYSGKLHR>A<CFM-N-NSG------------IL----EG-261
CACNA1FPLLHIALLVLFVIIIYAIIGLELFLGRMHK>T<CYF-L-GSD-------------M----EA-276
CACNA1GMLGNVLLLCFFVFFIFGIVGVQLWAGLLRN>R<CFL-P-ENFSLPLSVD-LE-RYYQT-ENE-264
CACNA1HMLGNVLLLCFFVFFIFGIVGVQLWAGLLRN>R<CFL-D-SAFVRNNNLTFLR-PYYQT-EEG-284
CACNA1IMLGNVLLLCFFVFFIFGIIGVQLWAGLLRN>R<CFL-E-ENFTIQGDVA-LP-PYYQP-EED-262
CACNA1SPLFHIALLVLFMVIIYAIIGLELFKGKMHK>T<CYF-I-GTD-------------I----VAT236
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 279 for SCN5A.