Paralogue Annotation for SCN5A residue 904

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 904
Reference Amino Acid: W - Tryptophan
Protein Domain: TM Domain 2


Paralogue Variants mapped to SCN5A residue 904

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AW957LMyoclonic epilepsy of infancyHigh9 17561957
SCN1AW957RMyoclonic epilepsy of infancyHigh9 21425109

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.



SCN5ALLPRWHMMDFFHAFLIIFRILCGE-WIETM>W<DCMEV-----SGQSLCLLVFLLVMVIGNLV929
SCN1AQLPRWHMNDFFHSFLIVFRVLCGE-WIETM>W<DCMEV-----AGQAMCLTVFMMVMVIGNLV982
SCN2AELPRWHMHDFFHSFLIVFRVLCGE-WIETM>W<DCMEV-----AGQTMCLTVFMMVMVIGNLV973
SCN3ATLPRWHMNDFFHSFLIVFRVLCGE-WIETM>W<DCMEV-----AGQTMCLIVFMLVMVIGNLV974
SCN4ANLPRWHMHDFFHSFLIVFRILCGE-WIETM>W<DCMEV-----AGQAMCLTVFLMVMVIGNLV792
SCN7AQLPRWHMHDFFHSFLNVFRILCGE-WVETL>W<DCMEV-----AGQSWCIPFYLMVILIGNLL719
SCN8AELPRWHMHDFFHSFLIVFRVLCGE-WIETM>W<DCMEV-----AGQAMCLIVFMMVMVIGNLV967
SCN9ATLPRWHMNDFFHSFLIVFRVLCGE-WIETM>W<DCMEV-----AGQAMCLIVYMMVMVIGNLV947
SCN10ADWPRWHMHDFFHSFLIVFRILCGE-WIENM>W<ACMEV-----GQKSICLILFLTVMVLGNLV880
SCN11ACLRHWHMGDFWHSFLVVFRILCGE-WIENM>W<ECMQEAN---ASSSLCVIVFILITVIGKLV801
CACNA1A-TPPTNFDTFPAAIMTVFQILTGEDWNEVM>Y<DGIKSQGGV-QGGMVFSIYFIVLTLFGNYT704
CACNA1B-TPTTNFDTFPAAILTVFQILTGEDWNAVM>Y<HGIESQGGV-SKGMFSSFYFIVLTLFGNYT700
CACNA1CQTRRSTFDNFPQSLLTVFQILTGEDWNSVM>Y<DGIMAYGGPSFPGMLVCIYFIILFICGNYI743
CACNA1DQTKRSTFDNFPQALLTVFQILTGEDWNAVM>Y<DGIMAYGGPSSSGMIVCIYFIILFICGNYI762
CACNA1E-TPSANFDTFPAAIMTVFQILTGEDWNEVM>Y<NGIRSQGGV-SSGMWSAIYFIVLTLFGNYT693
CACNA1FHTKRSTFDTFPQALLTVFQILTGEDWNVVM>Y<DGIMAYGGPFFPGMLVCIYFIILFICGNYI748
CACNA1GLPDRKNFDSLLWAIVTVFQILTQEDWNKVL>Y<NGMAS-T-S----SWAALYFIALMTFGNYV954
CACNA1HVPDRKNFDSLLWAIVTVFQILTQEDWNVVL>Y<NGMAS-T-S----SWAALYFVALMTFGNYV1005
CACNA1IVPDRKNFDSLLWAIVTVFQILTQEDWNVVL>Y<NGMAS-T-S----PWASLYFVALMTFGNYV852
CACNA1SEVRRSNFDNFPQALISVFQVLTGEDWTSMM>Y<NGIMAYGGPSYPGMLVCIYFIILFVCGNYI651
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.W904Lc.2711G>T Putative BenignSIFT: deleterious
Polyphen: probably damaging