Results for the protein: O60939

Results for the Protein: O60939

12229743

6327

SCN2B

NCBI, UniProt

SCN2B_HUMAN RecName: Full=Sodium channel subunit beta-2; Flags: Precursor

Known Diseases associated with this Protein:
  ATRIAL FIBRILLATION, FAMILIAL, 14
  ATRIAL FIBRILLATION, FAMILIAL, 14 (ATFB14)
  VARIANT OF UNKNOWN SIGNIFICANCE

5

2

3

0

4

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Default View: IG - smart00409 IG_like - smart00410 V-set - pfam07686 IGv - smart00406	Swiss-Prot Protein: O60939 Identical to: NP_004579 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
IG_like	smart00410	1.6e-09	35	147
V-set	pfam07686	1.6e-23	37	146
IGv	smart00406	0.0005	45	129

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_070229	Disease	p.ARG28GLN	Atrial fibrillation, familial, 14 (ATFB14)
Swiss-Prot	VAR_029132	Polymorphism	p.ARG47HIS	N/A
Swiss-Prot	VAR_029131	Disease	p.ARG28TRP	Atrial fibrillation, familial, 14 (ATFB14)
Swiss-Prot	VAR_070230	Polymorphism	p.ASP211GLY	N/A
OMIM	601327.0002	Disease	p.ARG28GLN	ATRIAL FIBRILLATION, FAMILIAL, 14
OMIM	601327.0001	Disease	p.ARG28TRP	ATRIAL FIBRILLATION, FAMILIAL, 14
OMIM	601327.0003	Disease	p.ASP211GLY	VARIANT OF UNKNOWN SIGNIFICANCE

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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