Results for the protein: NP

Results for the Protein: NP_001166289

290463102

5236

PGM1

NCBI

phosphoglucomutase-1 isoform 2 [Homo sapiens]

Known Diseases associated with this Protein:
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT
GLYCOGEN STORAGE DISEASE XIV

3

4

3

4

0

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: Pgm - COG0033 PGM1 - cd03085 {ManB} - COG1109 PGM_PMM_I - pfam02878 phosphohexomutase - cd03084 PGM_like4 - cd05803 PGM_like1 - cd03087 PGM_like3 - cd05801 PMM_PGM - cd03089 PGM2 - cd05799 PGM_like2 - cd05800 GlmM - cd05802 PGM_PMM_II - pfam02879 PGM_PMM_III - pfam02880 PGM_PMM_IV - pfam00408	RefSeq Protein: NP_001166289 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
PGM1	cd03085		23	580
{ManB}	COG1109	1.3e-14	31	561
phosphohexomutase	cd03084	2.9e-88	34	554
PGM_like4	cd05803	1.2e-06	34	493
PGM_like1	cd03087	1.2e-05	36	467
PGM_like3	cd05801	1.5e-08	44	519
PMM_PGM	cd03089	1.5e-08	53	554
PGM2	cd05799	5.5e-14	58	541
PGM_like2	cd05800	2.1e-16	66	543
GlmM	cd05802	0.00012	83	478
PGM_PMM_I	pfam02878	3.7e-46	32	176
PGM_PMM_II	pfam02879	8.4e-19	211	319
PGM_PMM_III	pfam02880	2.3e-29	324	438
PGM_PMM_IV	pfam00408	1.7e-20	467	568

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs1126728	Polymorphism	p.ARG239CYS	N/A
dbSNP	rs855314	Polymorphism	p.ILE106VAL	N/A
dbSNP	rs11208257	Polymorphism	p.TYR438HIS	N/A
dbSNP	rs6676290	Polymorphism	p.VAL519ILE	N/A
OMIM	171900.0004	Disease	p.ARG503TER	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It
OMIM	171900.0003	Disease	p.GLY121ARG	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It
OMIM	171900.0001	Disease	p.THR115ALA	GLYCOGEN STORAGE DISEASE XIV

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