Results for the protein: P51570

Results for the Protein: P51570

1730187

2584

GALK1

NCBI, UniProt

GALK1_HUMAN RecName: Full=Galactokinase; AltName: Full=Galactose kinase

Known Diseases associated with this Protein:
GALACTOKINASE DEFICIENCY
GALACTOSEMIA II (GALCT2)

16

3

5

0

14

Tips:

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

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Default View: GalK - COG0153 GalKase_gal_bdg - pfam10509 ERG12 - COG1577 GHMP_kinases_N - pfam00288 GHMP_kinases_C - pfam08544	Swiss-Prot Protein: P51570 Identical to: NP_000145 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
ERG12	COG1577	7e-07	30	389
GHMP_kinases_N	pfam00288	6.7e-13	126	194
GalKase_gal_bdg	pfam10509	2.3e-28	17	68
GHMP_kinases_C	pfam08544	4.3e-16	291	374

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_023496	Disease	p.ALA384PRO	Galactosemia II (GALCT2)
Swiss-Prot	VAR_015746	Disease	p.ALA198VAL	Galactosemia II (GALCT2)
Swiss-Prot	VAR_023488	Disease	p.ARG68CYS	Galactosemia II (GALCT2)
Swiss-Prot	VAR_023490	Disease	p.ARG239GLN	Galactosemia II (GALCT2)
Swiss-Prot	VAR_023486	Disease	p.GLY36ARG	Galactosemia II (GALCT2)
Swiss-Prot	VAR_023491	Polymorphism	p.GLY274ASP	N/A
Swiss-Prot	VAR_023494	Disease	p.GLY346SER	Galactosemia II (GALCT2)
Swiss-Prot	VAR_023495	Disease	p.GLY349SER	Galactosemia II (GALCT2)
Swiss-Prot	VAR_023487	Disease	p.HIS44TYR	Galactosemia II (GALCT2)
Swiss-Prot	VAR_023489	Polymorphism	p.ILE184MET	N/A
Swiss-Prot	VAR_008514	Disease	p.PRO28THR	Galactosemia II (GALCT2)
Swiss-Prot	VAR_023492	Disease	p.THR288MET	Galactosemia II (GALCT2)
Swiss-Prot	VAR_023493	Polymorphism	p.VAL338ALA	N/A
Swiss-Prot	VAR_002547	Disease	p.VAL32MET	Galactosemia II (GALCT2)
OMIM	604313.0006	Disease	p.ALA198VAL	GALACTOKINASE DEFICIENCY
OMIM	604313.0004	Disease	p.GLN382TER	GALACTOKINASE DEFICIENCY
OMIM	604313.0002	Disease	p.GLU80TER	GALACTOKINASE DEFICIENCY
OMIM	604313.0003	Disease	p.PRO28THR	GALACTOKINASE DEFICIENCY
OMIM	604313.0001	Disease	p.VAL32MET	GALACTOKINASE DEFICIENCY

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