Home  |  Contact

UniProtKB/Swiss-Prot Q8WZA1: Variant p.Leu120Arg

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

Variant position:  120
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 Leucine (L) to Arginine (R) at position 120 (L120R, p.Leu120Arg).
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 medium size and hydrophobic (L) to large size and basic (R)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -2
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:  Retinitis pigmentosa 76 (RP76) [MIM:617123]: A form of retinitis pigmentosa, a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP76 inheritance is autosomal recessive. {ECO:0000269|PubMed:26908613, ECO:0000269|PubMed:27391550}. 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 RP76; no effect on protein abundance; reduced acetylglucosaminyltransferase activity.
Any additional useful information about the variant.

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



Sequence information

Variant position:  120
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:   DVEVYSSRSKVYVAVDGTTV  L EDEAREQGRGIHVIVLNQAT
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                         DVEVYSSRSKVYVAVDGTTVLEDEAREQGRGIHVIVLNQAT

Mouse                         DVEVYSSRSKVYVAVDGTTVLEDEAREQGRGIHVIVLNQAT

Rat                           DVEVYSSRSKVYVAVDGTTVLEDEAREQGRGIHVIVLNQAT

Bovine                        DVEVYSSRSKVYVAVDGTTVLEDEAQEQGRGIHVIVLNQAT

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
Region 92 – 288 Carbohydrate-binding stem domain
Binding site 129 – 129 Carbohydrate
Mutagenesis 129 – 129 R -> A. Decreased protein stability. Decreased enzyme activity.
Beta strand 117 – 122


Literature citations

Homozygosity Mapping and Whole-Genome Sequencing Links a Missense Mutation in POMGNT1 to Autosomal Recessive Retinitis Pigmentosa.
Wang N.H.; Chen S.J.; Yang C.F.; Chen H.W.; Chuang H.P.; Lu Y.H.; Chen C.H.; Wu J.Y.; Niu D.M.; Chen Y.T.;
Invest. Ophthalmol. Vis. Sci. 57:3601-3609(2016)
Cited for: INVOLVEMENT IN RP76; VARIANT RP76 ARG-120; CHARACTERIZATION OF VARIANT RP76 ARG-120; FUNCTION; CATALYTIC ACTIVITY; PATHWAY;

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.