Literature summary for 2.4.1.109 extracted from

Lommel, M.; Cirak, S.; Willer, T.; Hermann, R.; Uyanik, G.; van Bokhoven, H.; Koerner, C.; Voit, T.; Bari?, I.; Hehr, U.; Strahl, S.
Correlation of enzyme activity and clinical phenotype in POMT1-associated dystroglycanopathies (2010), Neurology, 74, 157-164.

Search for more literature for 2.4.1.109

Application

Application	Comment	Organism
diagnostics	analysis of fibroblasts to elucidate the phenotypes of POMT1 mutations	Homo sapiens

Cloned(Commentary)

Cloned (Comment)	Organism
PCR-amplification of blood derived enzyme gene	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
L171A	stable enzyme with reduced activity causing phenotype limb girdle muscular dystrophy 2K, together with partial heterozygous deletion p.A589VfsX38 mutant, reduced amounts of O-mannosyl linked glyco-epitope (IIH6) on alpha-dystroglycans resulting in less than 100-125 kDa alpha-dystroglycans, about 40% residual enzyme activity	Homo sapiens
additional information	heterozygous deletion leading to a frame shift mutation causing an amino acid exchange A589V and a premature stop codon after 38 amino acids (p.A589VfsX38), reduced enzyme stability, reduced amounts of O-mannosyl linked glyco-epitope (IIH6) on alpha-dystroglycans resulting in less than 100-125 kDa alpha-dystroglycans, about 40% residual enzyme activity, phenotype limb girdle muscular dystrophy 2K	Homo sapiens

Molecular Weight [Da]

Molecular Weight [Da]	Molecular Weight Maximum [Da]	Comment	Organism
additional information	-	Walker-Warburg syndrome p.del77-93 mutant enzyme is not detectable, Western blot analysis, SDS-PAGE with antibody staining	Homo sapiens
71000	-	limb girdle muscular dystrophy deletion mutant p.A589VfsX38 enzyme, Western blot analysis, SDS-PAGE with antibody staining	Homo sapiens
85000	-	limb girdle muscular dystrophy mutant L171A enzyme, Western blot analysis, SDS-PAGE with antibody staining	Homo sapiens
85000	-	wild-type enzyme, Western blot analysis, SDS-PAGE with antibody staining	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	Q9Y6A1	one patient with limb girdle muscular dystrophy 2K, one patient with Walker-Warburg syndrome	-

Source Tissue

Source Tissue	Comment	Organism	Textmining
blood	-	Homo sapiens	-
fibroblast	dermal	Homo sapiens	-

Substrates and Products (Substrate)

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
dolichyl phosphate D-mannose + alpha-dystroglycan glutathione-S-transferase fusion protein	sugar donor tritium-labeled	Homo sapiens	dolichyl phosphate + O-D-mannosyl-[alpha-dystroglycan]	-	?

Synonyms

Synonyms	Comment	Organism
O-mannosyltransferase	-	Homo sapiens
POMT1	-	Homo sapiens

General Information

General Information	Comment	Organism
malfunction	dystroglycanopathies (muscular dystrophy due to abnormal glycosylation of alpha-dystroglycan) such as the severe Walker-Warburg syndrome (brain and eye abnormalities, mild limb girdle muscular dystrophy)	Homo sapiens

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Release 2023.1 (January 2023)