Results for the protein: Q9NZV5

Results for the Protein: Q9NZV5

317373588

57190

SEPN1

NCBI, UniProt

SELN_HUMAN RecName: Full=Selenoprotein N; Short=SelN; Flags: Precursor

Known Diseases associated with this Protein:
  MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION, INCLUDED
  RIGID SPINE MUSCULAR DYSTROPHY 1
  RIGID SPINE MUSCULAR DYSTROPHY 1 (RSMD1)

17

4

7

3

11

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Default View:	Swiss-Prot Protein: Q9NZV5 Identical to: NP_065184 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_019641	Disease	p.ARG466GLN	Rigid spine muscular dystrophy 1 (RSMD1)
Swiss-Prot	VAR_058463	Disease	p.ARG469GLN	Rigid spine muscular dystrophy 1 (RSMD1)
dbSNP	rs74060854	Polymorphism	p.ARG582GLN	N/A
Swiss-Prot	VAR_058464	Disease	p.ARG469TRP	Rigid spine muscular dystrophy 1 (RSMD1)
Swiss-Prot	VAR_019638	Disease	p.ASN340ILE	Rigid spine muscular dystrophy 1 (RSMD1)
dbSNP	rs2294228	Polymorphism	p.ASN502LYS	N/A
dbSNP	rs7349185	Polymorphism	p.CYS142TYR	N/A
Swiss-Prot	VAR_019635	Disease	p.GLY273GLU	Rigid spine muscular dystrophy 1 (RSMD1)
Swiss-Prot	VAR_019637	Disease	p.GLY315SER	Rigid spine muscular dystrophy 1 (RSMD1)
Swiss-Prot	VAR_058462	Disease	p.GLY463VAL	Rigid spine muscular dystrophy 1 (RSMD1)
Swiss-Prot	VAR_019636	Disease	p.HIS293ARG	Rigid spine muscular dystrophy 1 (RSMD1)
Swiss-Prot	VAR_019640	Disease	p.SEC462GLY	Rigid spine muscular dystrophy 1 (RSMD1)
Swiss-Prot	VAR_038845	Polymorphism	p.THR137ALA	N/A
Swiss-Prot	VAR_019639	Disease	p.TRP453SER	Rigid spine muscular dystrophy 1 (RSMD1)
OMIM	606210.0004	Disease	p.ARG466GLN	RIGID SPINE MUSCULAR DYSTROPHY 1
OMIM	606210.0001	Disease	p.GLY273GLU	RIGID SPINE MUSCULAR DYSTROPHY 1
OMIM	606210.0008	Disease	p.GLY315SER	RIGID SPINE MUSCULAR DYSTROPHY 1\|\|MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION, INCLUDED
OMIM	606210.0003	Disease	p.MET1VAL	RIGID SPINE MUSCULAR DYSTROPHY 1
OMIM	606210.0007	Disease	p.SEC462GLY	RIGID SPINE MUSCULAR DYSTROPHY 1
OMIM	606210.0002	Disease	p.SEC462TER	RIGID SPINE MUSCULAR DYSTROPHY 1
OMIM	606210.0005	Disease	p.TRP453SER	RIGID SPINE MUSCULAR DYSTROPHY 1

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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