Results for the protein: Q04760

Results for the Protein: Q04760

134039205

2739

GLO1

NCBI, UniProt

LGUL_HUMAN RecName: Full=Lactoylglutathione lyase; AltName: Full=Aldoketomutase; AltName: Full=Glyoxalase I; Short=Glx I; AltName: Full=Ketone-aldehyde mutase; AltName: Full=Methylglyoxalase; AltName: Full=S-D-lactoylglutathione methylglyoxal lyase

Known Diseases associated with this Protein:
RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE

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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.

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Default View: GloA - COG0346 Glyoxalase - pfam00903 Glyoxalase_I - cd07233 Glo_EDI_BRP_like - cd06587 Glo_EDI_BRP_like_9 - cd07245 PcpA_N_like - cd08346	Swiss-Prot Protein: Q04760 Identical to: NP_006699 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Glyoxalase_I	cd07233	2.5e-91	32	175
Glo_EDI_BRP_like	cd06587	2.4e-29	34	174
Glo_EDI_BRP_like_9	cd07245	0.00015	37	174
PcpA_N_like	cd08346	0.00027	37	175
Glyoxalase	pfam00903	4.5e-43	31	174

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_031078	Polymorphism	p.CYS19TYR	N/A
dbSNP	rs4746	Polymorphism	p.GLU111ALA	N/A
OMIM	138750.0001	Disease	p.ALA111GLU	RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE

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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