Home News About DMDM Database Statistics Research Publications Contact  

Results for the Protein: NP_001166290
290463104

phosphoglucomutase-1 isoform 3 [Homo sapiens]

Known Diseases associated with this Protein:
  CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT
1
3
1
3
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:

PGM1 - cd03085
Pgm - COG0033
PGM_like2 - cd05800
phosphohexomutase - cd03084
PGM2 - cd05799
PGM_PMM_II - pfam02879
PGM_PMM_III - pfam02880
PGM_PMM_IV - pfam00408




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
phosphohexomutasecd030841.7e-102339
PGM2cd057996.5e-062326
PGM_like2cd058007.2e-072328
PgmCOG00331.1e-682351
PGM_PMM_IIpfam028791.3e-147104
PGM_PMM_IIIpfam028802.3e-29109223
PGM_PMM_IVpfam004081.7e-20252353

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs1126728 Polymorphismp.ARG24CYSN/A
dbSNPrs11208257 Polymorphismp.TYR223HISN/A
dbSNPrs6676290 Polymorphismp.VAL304ILEN/A
OMIM171900.0004 Diseasep.ARG288TERCONGENITAL DISORDER OF GLYCOSYLATION, TYPE It



   |   1000 Hilltop Circle, Baltimore, MD 21250   |   Department of Biological Sciences   |   Phone: 410-455-2258