Results for the protein: Q14376

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
RfbD	COG1091	4.8e-05	1	334
WcaG	COG0451	4.9e-62	3	343
GalE	COG1087	2.4e-206	3	344
RfbB	COG1088	1e-10	3	347
adh_short	pfam00106	0.00049	3	176
Epimerase	pfam01370	6.1e-71	5	269
RmlD_sub_bind	pfam04321	0.001	5	334
3Beta_HSD	pfam01073	1.5e-05	6	294
KR	pfam08659	0.00099	5	147
NAD_binding_4	pfam07993	2.6e-05	7	242

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_002542	Polymorphism	p.ALA180VAL	N/A
Swiss-Prot	VAR_037733	Disease	p.ALA25VAL	Epimerase-deficiency galactosemia (EDG)
Swiss-Prot	VAR_037734	Disease	p.ARG40CYS	Epimerase-deficiency galactosemia (EDG)
Swiss-Prot	VAR_037740	Disease	p.ARG335HIS	Epimerase-deficiency galactosemia (EDG)
Swiss-Prot	VAR_037737	Disease	p.ARG169TRP	Epimerase-deficiency galactosemia (EDG)
Swiss-Prot	VAR_037738	Disease	p.ARG239TRP	Epimerase-deficiency galactosemia (EDG)
Swiss-Prot	VAR_002539	Disease	p.ASN34SER	Epimerase-deficiency galactosemia (EDG)
Swiss-Prot	VAR_037735	Disease	p.ASP69GLU	Epimerase-deficiency galactosemia (EDG)
Swiss-Prot	VAR_002541	Disease	p.ASP103GLY	Epimerase-deficiency galactosemia (EDG)
Swiss-Prot	VAR_037736	Disease	p.GLU165LYS	Epimerase-deficiency galactosemia (EDG)
Swiss-Prot	VAR_037739	Disease	p.GLY302ASP	Epimerase-deficiency galactosemia (EDG)
Swiss-Prot	VAR_002546	Disease	p.GLY319GLU	Epimerase-deficiency galactosemia (EDG)
Swiss-Prot	VAR_002540	Disease	p.GLY90GLU	Epimerase-deficiency galactosemia (EDG)
Swiss-Prot	VAR_002545	Disease	p.LEU313MET	Epimerase-deficiency galactosemia (EDG)
Swiss-Prot	VAR_002543	Disease	p.LEU183PRO	Epimerase-deficiency galactosemia (EDG)
Swiss-Prot	VAR_002544	Disease	p.LYS257ARG	Epimerase-deficiency galactosemia (EDG)
Swiss-Prot	VAR_010058	Disease	p.VAL94MET	Epimerase-deficiency galactosemia (EDG)
OMIM	606953.0002	Disease	p.ASN34SER	GALACTOSE EPIMERASE DEFICIENCY
OMIM	606953.0004	Disease	p.ASP103GLY	GALACTOSE EPIMERASE DEFICIENCY
OMIM	606953.0007	Disease	p.GLY319GLU	GALACTOSE EPIMERASE DEFICIENCY
OMIM	606953.0003	Disease	p.GLY90GLU	GALACTOSE EPIMERASE DEFICIENCY
OMIM	606953.0006	Disease	p.LEU313MET	GALACTOSE EPIMERASE DEFICIENCY
OMIM	606953.0001	Disease	p.LEU183PRO	GALACTOSE EPIMERASE DEFICIENCY
OMIM	606953.0005	Disease	p.LYS257ARG	GALACTOSE EPIMERASE DEFICIENCY
OMIM	606953.0008	Disease	p.VAL94MET	GALACTOSE EPIMERASE DEFICIENCY, SEVERE

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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