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UniProtKB/Swiss-Prot Q8WZA1: Variant p.Arg311Gln

Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1
Gene: POMGNT1
Chromosomal location: 1p34.1
Variant information

Variant position:  311
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Arginine (R) to Glutamine (Q) at position 311 (R311Q, p.Arg311Gln).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Change from large size and basic (R) to medium size and polar (Q)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  1
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Involvement in disease:  Muscular dystrophy-dystroglycanopathy congenital with mental retardation B3 (MDDGB3) [MIM:613151]: An autosomal recessive disorder characterized by congenital muscular dystrophy associated with mental retardation and mild structural brain abnormalities. Clinical features include mental retardation, white matter changes, cerebellar cysts, pontine hypoplasia, myopia, optic atrophy, decreased alpha-dystroglycan on muscle biopsy and increased serum creatine kinase. {ECO:0000269|PubMed:17030669, ECO:0000269|PubMed:19067344, ECO:0000269|PubMed:19299310}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Involvement in disease:  Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3 (MDDGA3) [MIM:253280]: An autosomal recessive disorder characterized by congenital muscular dystrophy, ocular abnormalities, cobblestone lissencephaly, and cerebellar and pontine hypoplasia. Patients present severe congenital myopia, congenital glaucoma, pallor of the optic disks, retinal hypoplasia, mental retardation, hydrocephalus, abnormal electroencephalograms, generalized muscle weakness and myoclonic jerks. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease. {ECO:0000269|PubMed:11709191, ECO:0000269|PubMed:12588800, ECO:0000269|PubMed:12788071, ECO:0000269|PubMed:15207699, ECO:0000269|PubMed:15236414, ECO:0000269|PubMed:15466003, ECO:0000269|PubMed:17030669, ECO:0000269|PubMed:19067344}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In MDDGA3 and MDDGB3.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  311
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  660
The length of the canonical sequence.

Location on the sequence:   PDPLPDNKVLNVPVAVIAGN  R PNYLYRMLRSLLSAQGVSPQ
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.

Residue conservation: 
The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         PDPLPDNKVLNVPVAVIAGNRPNYLYRMLRSLLSAQGVSPQ

Mouse                         PDPLPDNKVLNVPVAVIAGNRPNYLYRMLRSLLSAQGVSPQ

Rat                           PDPLPDNKVLNVPVAVIAGNRPNYLYRMLRSLLSAQGVSPQ

Bovine                        PDPLPDNKVLNVPVAVIAGNRPNYLYRMLRSLLSAQGVSPQ

Sequence annotation in neighborhood:  
The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
  • Type: the type of sequence feature.
  • Positions: endpoints of the sequence feature.
  • Description: contains additional information about the feature.

TypePositionsDescription
Chain 1 – 660 Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1
Topological domain 59 – 660 Lumenal
Nucleotide binding 307 – 311 UDP-GlcNAc
Region 300 – 646 Catalytic


Literature citations

POMGnT1 gene alterations in a family with neurological abnormalities.
Vervoort V.S.; Holden K.R.; Ukadike K.C.; Collins J.S.; Saul R.A.; Srivastava A.K.;
Ann. Neurol. 56:143-148(2004)
Cited for: VARIANTS MDDGA3 HIS-265; GLN-311 AND CYS-442;

POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum.
Biancheri R.; Bertini E.; Falace A.; Pedemonte M.; Rossi A.; D'Amico A.; Scapolan S.; Bergamino L.; Petrini S.; Cassandrini D.; Broda P.; Manfredi M.; Zara F.; Santorelli F.M.; Minetti C.; Bruno C.;
Arch. Neurol. 63:1491-1495(2006)
Cited for: VARIANTS MDDGA3 ARG-198 AND TYR-490; VARIANT MDDGB3 GLN-311;

Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.