Results for the protein: Q9UKY4

Results for the Protein: Q9UKY4

32171723

29954

POMT2

NCBI, UniProt

POMT2_HUMAN RecName: Full=Protein O-mannosyl-transferase 2; AltName: Full=Dolichyl-phosphate-mannose--protein mannosyltransferase 2

Known Diseases associated with this Protein:
  ANOMALIES), TYPE A, 2
  MUSCULAR DYSTROPHY-DYSTROGLYCANO
  MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE
  MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),
  MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2
  MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES A2 (MDDGA2)
  MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH MENTAL RETARDATION B2 (MDDGB2)
  MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE C2 (MDDGC2)
  TYPE B, 2

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Default View: PMT1 - COG1928 PMT - pfam02366 MIR - smart00472 MIR - pfam02815	Swiss-Prot Protein: Q9UKY4 Identical to: NP_037514 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
PMT	pfam02366	2e-117	62	306
MIR	pfam02815	5.4e-31	353	527
MIR	smart00472	1.3e-09	334	390
MIR	smart00472	1e-11	403	459
MIR	smart00472	3e-07	465	521

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs8177536	Polymorphism	p.ALA54GLU	N/A
Swiss-Prot	VAR_065042	Disease	p.ARG413PRO	Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A2 (MDDGA2)
Swiss-Prot	VAR_065039	Disease	p.GLY246ASP	Muscular dystrophy-dystroglycanopathy congenital with mental retardation B2 (MDDGB2)
Swiss-Prot	VAR_065047	Disease	p.GLY726GLU	Muscular dystrophy-dystroglycanopathy congenital with mental retardation B2 (MDDGB2)
Swiss-Prot	VAR_065040	Disease	p.GLY353SER	Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A2 (MDDGA2)
Swiss-Prot	VAR_065044	Disease	p.GLY482VAL	Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A2 (MDDGA2)
Swiss-Prot	VAR_068968	Disease	p.HIS478ARG	Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A2 (MDDGA2)
Swiss-Prot	VAR_065038	Disease	p.ILE198ASN	Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A2 (MDDGA2)
Swiss-Prot	VAR_065046	Disease	p.PHE717SER	Muscular dystrophy-dystroglycanopathy congenital with mental retardation B2 (MDDGB2)
Swiss-Prot	VAR_065037	Disease	p.THR184MET	Muscular dystrophy-dystroglycanopathy limb-girdle C2 (MDDGC2)
Swiss-Prot	VAR_065048	Disease	p.TRP748ARG	Muscular dystrophy-dystroglycanopathy congenital with mental retardation B2 (MDDGB2)
Swiss-Prot	VAR_065049	Disease	p.TRP748SER	Muscular dystrophy-dystroglycanopathy limb-girdle C2 (MDDGC2)
Swiss-Prot	VAR_065045	Disease	p.TYR666CYS	Muscular dystrophy-dystroglycanopathy congenital with mental retardation B2 (MDDGB2)
Swiss-Prot	VAR_065041	Disease	p.VAL373PHE	Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A2 (MDDGA2)
OMIM	607439.0007	Disease	p.ARG413PRO	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE\|\|ANOMALIES), TYPE A, 2
OMIM	607439.0001	Disease	p.ARG638TER	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE\|\|ANOMALIES), TYPE A, 2
OMIM	607439.0016	Disease	p.GLY246ASP	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),\|\|TYPE B, 2
OMIM	607439.0013 607439.0015	Disease	p.GLY726GLU	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),\|\|TYPE B, 2
OMIM	607439.0012 607439.0014	Disease	p.GLY353SER	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),\|\|TYPE B, 2
OMIM	607439.0019	Disease	p.GLY482VAL	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE\|\|ANOMALIES), TYPE A, 2
OMIM	607439.0009	Disease	p.ILE198ASN	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE\|\|ANOMALIES), TYPE A, 2
OMIM	607439.0010	Disease	p.THR184MET	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2
OMIM	607439.0006	Disease	p.TRP748ARG	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),\|\|TYPE B, 2
OMIM	607439.0011	Disease	p.TRP748SER	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2
OMIM	607439.0005	Disease	p.TRP647TER	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),\|\|TYPE B, 2
OMIM	607439.0004	Disease	p.TYR666CYS	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),\|\|TYPE B, 2\|\|MUSCULAR DYSTROPHY-DYSTROGLYCANO
OMIM	607439.0008	Disease	p.VAL373PHE	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE\|\|ANOMALIES), TYPE A, 2

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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