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Results for the Protein: Q9NY72
12229762

SCN3B_HUMAN RecName: Full=Sodium channel subunit beta-3; Flags: Precursor

Known Diseases associated with this Protein:
  BRUGADA SYNDROME 7
  BRUGADA SYNDROME 7 (BRGDA7)
2
4
1
0
5
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

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 To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.



Default View:

Ig_P0 - cd05879
Ig_P0-like - cd05715
Ig_EVA1 - cd05880
IG_like - smart00410
IG - smart00409
V-set - pfam07686
ig - pfam00047
IGv - smart00406


Swiss-Prot Protein: Q9NY72
Identical to: NP_001035241, NP_060870
   Default View:










Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Ig_P0-likecd057151.4e-0626130
Ig_P0cd058791.7e-0626139
Ig_EVA1cd058804.5e-0528130
igpfam000473.9e-0538122
IGsmart004091.5e-0530140
IG_likesmart004101.5e-0530140
V-setpfam076866.2e-2032142
IGvsmart004060.0005540122

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_035522Polymorphismp.ALA195THRN/A
Swiss-ProtVAR_035521Polymorphismp.GLN89LEUN/A
Swiss-ProtVAR_062529Diseasep.LEU10PROBrugada syndrome 7 (BRGDA7)
Swiss-ProtVAR_049928Polymorphismp.SER97ASNN/A
Swiss-ProtVAR_065232Polymorphismp.VAL54GLYN/A
OMIM608214.0001 Diseasep.LEU10PROBRUGADA SYNDROME 7



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