Results for the protein: O95479

Results for the Protein: O95479

108884809

9563

H6PD

NCBI, UniProt

G6PE_HUMAN RecName: Full=GDH/6PGL endoplasmic bifunctional protein; Includes: RecName: Full=Glucose 1-dehydrogenase; AltName: Full=Hexose-6-phosphate dehydrogenase; Includes: RecName: Full=6-phosphogluconolactonase; Short=6PGL; Flags: Precursor

Known Diseases associated with this Protein:
CORTISONE REDUCTASE DEFICIENCY (CRD)

2

6

0

5

3

Tips:

The Domains on the Default View are decided by the Domain's E-Value.

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Default View: Zwf - COG0364 G6PD_N - pfam00479 G6PD_C - pfam02781 NagB - COG0363 SugarP_isomerase - cd00458 GlcN6P_deaminase - cd01399 6PGL - cd01400	Swiss-Prot Protein: O95479 Identical to: NP_004276 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
NagB	COG0363	3.6e-49	548	791
SugarP_isomerase	cd00458	1.3e-06	560	783
GlcN6P_deaminase	cd01399	5e-08	561	790
6PGL	cd01400	8.2e-92	561	784
G6PD_N	pfam00479	1.4e-33	29	221
G6PD_C	pfam02781	7.3e-18	215	514

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_049118	Polymorphism	p.ARG218GLN	N/A
dbSNP	rs6688832	Polymorphism	p.ARG453GLN	N/A
Swiss-Prot	VAR_026487	Disease	p.ARG453GLN	Cortisone reductase deficiency (CRD)
dbSNP	rs35404275	Polymorphism	p.ASN484ASP	N/A
dbSNP	rs34603401	Polymorphism	p.ASP151ALA	N/A
Swiss-Prot	VAR_069193	Disease	p.PRO146LEU	Cortisone reductase deficiency (CRD)
dbSNP	rs17368528	Polymorphism	p.PRO554LEU	N/A
dbSNP	rs201992885	Polymorphism	p.SER723PRO	N/A

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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