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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q3T906: Variant p.Asp190Val

N-acetylglucosamine-1-phosphotransferase subunits alpha/beta
Gene: GNPTAB
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Variant information Variant position: help 190 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help US The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change: help From Aspartate (D) to Valine (V) at position 190 (D190V, p.Asp190Val). 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: help Change from medium size and acidic (D) to medium size and hydrophobic (V) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 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

Variant description: help In MLIIIA; also found in patients with intermediate phenotype between MLII and MLIIIA; uncertain significance; no effect on protein abundance; no effect on localization to the Golgi; no effect on protein cleavage into alpha and beta subunits; decreased UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 190 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1256 The length of the canonical sequence.
Location on the sequence: help VAKPKNPSTNVSVVVFDSTK D VEDAHSGLLKGNSRQTVWRG 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human                         VAKPKNPSTNVSVVVFDSTKDVEDAHSGLLKGNSRQTVWRG

Mouse                         VAKPKNPSTNVSVVVFDTTKDVEDAHAGPFKGGSKQMVWRA

Zebrafish                     VAKPLHPSSSVTALLFHSHTEAEKAHADALKDLLTHSISRG

Sequence annotation in neighborhood: help 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 – 928 N-acetylglucosamine-1-phosphotransferase subunit alpha
Glycosylation 179 – 179 N-linked (GlcNAc...) asparagine
Helix 188 – 196



Literature citations
Analysis of mucolipidosis II/III GNPTAB missense mutations identifies domains of UDP-GlcNAc:lysosomal enzyme GlcNAc-1-phosphotransferase involved in catalytic function and lysosomal enzyme recognition.
Qian Y.; van Meel E.; Flanagan-Steet H.; Yox A.; Steet R.; Kornfeld S.;
J. Biol. Chem. 290:3045-3056(2015)
Cited for: CHARACTERIZATION OF VARIANTS MLII LEU-81; ASP-182; PRO-205; LEU-334; LEU-348; LEU-374; ASN-732; ARG-928; VAL-955; CYS-986; PRO-1001; VAL-1054 AND MET-1236; CHARACTERIZATION OF VARIANTS MLIIIA GLN-4; TYR-15; VAL-190; GLN-334; PHE-399; THR-403; ALA-407; TYR-442; GLY-461; SER-468; TYR-505; PRO-587; PRO-926; TYR-956; GLY-1018 AND SER-1153; CHARACTERIZATION OF VARIANTS ARG-523; THR-592 AND TRP-785; Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands.
Cathey S.S.; Leroy J.G.; Wood T.; Eaves K.; Simensen R.J.; Kudo M.; Stevenson R.E.; Friez M.J.;
J. Med. Genet. 47:38-48(2010)
Cited for: VARIANTS MLIIIA GLN-4; TYR-15; VAL-190; GLN-334; PHE-399; SER-468; TYR-505; ARG-956 AND GLY-1018; VARIANT MLII LEU-348;
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.