Results for the protein: Q9BUM1

Results for the Protein: Q9BUM1

74733234

92579

G6PC3

NCBI, UniProt

G6PC3_HUMAN RecName: Full=Glucose-6-phosphatase 3; Short=G-6-Pase 3; Short=G6Pase 3; AltName: Full=Glucose-6-phosphatase beta; Short=G6Pase-beta; AltName: Full=Ubiquitous glucose-6-phosphatase catalytic subunit-related protein

Known Diseases associated with this Protein:
  DURSUN SYNDROME
  DURSUN SYNDROME (DURSS)
  NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE (SCN4)
  NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE

13

1

6

1

7

Tips:

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

Clicking a check box will display or hide the correlated domain.

To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.

Default View: PAP2_like_2 - cd03392 PgpB - COG0671 PAP2_dolichyldiphosp - cd03382 PAP2_like_3 - cd03393 PAP2_glucose_6_phosp - cd03381 PAP2_like - cd01610 PAP2 - pfam01569 acidPPc - smart00014	Swiss-Prot Protein: Q9BUM1 Identical to: NP_612396 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
PAP2_dolichyldiphosp	cd03382	0.00027	3	187
PgpB	COG0671	1.2e-05	3	205
PAP2_like_3	cd03393	8.7e-05	37	187
PAP2_glucose_6_phosp	cd03381	1.4e-130	38	270
PAP2_like	cd01610	9.5e-20	50	187
PAP2	pfam01569	1e-20	53	195
acidPPc	smart00014	4.4e-16	58	187

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_064510	Disease	p.ARG189GLN	Neutropenia, severe congenital 4, autosomal recessive (SCN4)
Swiss-Prot	VAR_055157	Disease	p.ARG253HIS	Neutropenia, severe congenital 4, autosomal recessive (SCN4)
Swiss-Prot	VAR_064511	Disease	p.GLY260ARG	Neutropenia, severe congenital 4, autosomal recessive (SCN4)
Swiss-Prot	VAR_055158	Disease	p.GLY262ARG	Neutropenia, severe congenital 4, autosomal recessive (SCN4)
Swiss-Prot	VAR_055156	Disease	p.LEU185PRO	Neutropenia, severe congenital 4, autosomal recessive (SCN4)
Swiss-Prot	VAR_064508	Disease	p.MET116LYS	Neutropenia, severe congenital 4, autosomal recessive (SCN4)
Swiss-Prot	VAR_064509	Disease	p.MET116VAL	Dursun syndrome (DURSS)
dbSNP	rs34406052	Polymorphism	p.THR216ILE	N/A
OMIM	611045.0001	Disease	p.ARG253HIS	NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE
OMIM	611045.0007	Disease	p.GLY260ARG	NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE
OMIM	611045.0004	Disease	p.GLY262ARG	NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE
OMIM	611045.0002	Disease	p.LEU185PRO	NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE
OMIM	611045.0006	Disease	p.MET116VAL	DURSUN SYNDROME
OMIM	611045.0003	Disease	p.TYR47TER	NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE

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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