Results for the protein: NP

Results for the Protein: NP_001129586

209870084

10585

POMT1

NCBI

protein O-mannosyl-transferase 1 isoform d [Homo sapiens]

Known Diseases associated with this Protein:
  ANOMALIES), TYPE A, 1
  MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH EYE AND BRAIN
  MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),
  MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1
  TYPE B, 1

9

3

9

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: PMT1 - COG1928 PMT - pfam02366 MIR - smart00472 MIR - pfam02815	RefSeq Protein: NP_001129586 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
PMT	pfam02366	7.2e-20	1	150
MIR	pfam02815	3.7e-12	202	380
MIR	smart00472	8.1e-10	179	242
MIR	smart00472	6.8e-06	253	310
MIR	smart00472	3.7e-05	317	374

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs12115566	Polymorphism	p.ALA502VAL	N/A
dbSNP	rs11243406	Polymorphism	p.ASP294GLU	N/A
dbSNP	rs4740164	Polymorphism	p.VAL188ILE	N/A
OMIM	607423.0005	Disease	p.ALA83PRO	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1
OMIM	607423.0013	Disease	p.ALA530THR	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),\|\|TYPE B, 1
OMIM	607423.0008	Disease	p.ARG375TER	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),\|\|TYPE B, 1
OMIM	607423.0011	Disease	p.ARG402TER	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),\|\|TYPE B, 1
OMIM	607423.0019	Disease	p.ASN27ASP	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1
OMIM	607423.0009 607423.0012	Disease	p.GLN451HIS	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),\|\|TYPE B, 1
OMIM	607423.0002	Disease	p.GLN164TER	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH EYE AND BRAIN\|\|ANOMALIES), TYPE A, 1
OMIM	607423.0020	Disease	p.THR275MET	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1
OMIM	607423.0007	Disease	p.TRP443CYS	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),\|\|TYPE B, 1

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.

DMDM_info@umbc.edu | 1000 Hilltop Circle, Baltimore, MD 21250 | Department of Biological Sciences | Phone: 410-455-2258