Results for the protein: Q9NQX3

Results for the Protein: Q9NQX3

13431554

10243

GPHN

NCBI, UniProt

GEPH_HUMAN RecName: Full=Gephyrin; Includes: RecName: Full=Molybdopterin adenylyltransferase; Short=MPT adenylyltransferase; AltName: Full=Domain G; Includes: RecName: Full=Molybdopterin molybdenumtransferase; Short=MPT Mo-transferase; AltName: Full=Domain E

Known Diseases associated with this Protein:
  MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP C
  MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP C (MOCODC)
  VARIANT OF UNKNOWN SIGNIFICANCE

3

1

2

0

2

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Default View: MoCF_biosynth - smart00852	Swiss-Prot Protein: Q9NQX3 Identical to: NP_001019389 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
MoCF_biosynth	smart00852	3.6e-42	502	638

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_044162	Polymorphism	p.ASN10TYR	N/A
Swiss-Prot	VAR_070275	Disease	p.ASP580ALA	Molybdenum cofactor deficiency, complementation group C (MOCODC)
OMIM	603930.0002	Disease	p.ASN10TYR	VARIANT OF UNKNOWN SIGNIFICANCE
OMIM	603930.0003	Disease	p.ASP547ALA	MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP C

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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