Results for the protein: Q9NZ94

Results for the Protein: Q9NZ94

31076855

54413

NLGN3

NCBI, UniProt

NLGN3_HUMAN RecName: Full=Neuroligin-3; AltName: Full=Gliotactin homolog; Flags: Precursor

Known Diseases associated with this Protein:
  ASPERGER SYNDROME, SUSCEPTIBILITY TO, X-LINKED 1, INCLUDED
  AUTISM, SUSCEPTIBILITY TO, X-LINKED 1
  AUTISM, X-LINKED 1 (AUTSX1)

2

4

1

0

5

Tips:

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Default View: COesterase - pfam00135 PnbA - COG2272 Esterase_lipase - cd00312	Swiss-Prot Protein: Q9NZ94 Identical to: NP_851820 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
COesterase	pfam00135	3.2e-249	36	624
PnbA	COG2272	1.4e-70	40	630

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_015668	Disease	p.ARG451CYS	Autism, X-linked 1 (AUTSX1)
Swiss-Prot	VAR_068890	Polymorphism	p.GLY778SER	N/A
Swiss-Prot	VAR_068889	Polymorphism	p.GLY751TRP	N/A
Swiss-Prot	VAR_068888	Polymorphism	p.LEU718ILE	N/A
Swiss-Prot	VAR_068887	Polymorphism	p.SER92TYR	N/A
OMIM	300336.0001	Disease	p.ARG451CYS	AUTISM, SUSCEPTIBILITY TO, X-LINKED 1\|\|ASPERGER SYNDROME, SUSCEPTIBILITY TO, X-LINKED 1, INCLUDED

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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