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UniProtKB/Swiss-Prot P54802: Variant p.Ile154Arg

Chromosomal location: 17q21
Variant information

Variant position:  154
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 Isoleucine (I) to Arginine (R) at position 154 (I154R, p.Ile154Arg).
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 (I) to large size and basic (R)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -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

Involvement in disease:  Mucopolysaccharidosis 3B (MPS3B) [MIM:252920]: A form of mucopolysaccharidosis type 3, an autosomal recessive lysosomal storage disease due to impaired degradation of heparan sulfate. MPS3 is characterized by severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life. {ECO:0000269|PubMed:10094189, ECO:0000269|PubMed:11068184, ECO:0000269|PubMed:11153910, ECO:0000269|PubMed:11286389, ECO:0000269|PubMed:11793481, ECO:0000269|PubMed:11836372, ECO:0000269|PubMed:12202988, ECO:0000269|PubMed:14984474, ECO:0000269|PubMed:15933803, ECO:0000269|PubMed:16151907, ECO:0000269|PubMed:28101780, ECO:0000269|PubMed:9443875, ECO:0000269|PubMed:9443878, ECO:0000269|PubMed:9832037, ECO:0000269|PubMed:9950362}. 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 MPS3B; does not yield active enzyme.
Any additional useful information about the variant.

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

Sequence information

Variant position:  154
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  743
The length of the canonical sequence.

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.

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.

Chain 24 – 743 Alpha-N-acetylglucosaminidase 82 kDa form
Chain 59 – 743 Alpha-N-acetylglucosaminidase 77 kDa form
Helix 147 – 159

Literature citations

Identification and characterisation of mutations underlying Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB).
Lee-Chen G.J.; Lin S.P.; Lin S.Z.; Chuang C.K.; Hsiao K.T.; Huang C.F.; Lien W.C.;
J. Med. Genet. 39:E3-E3(2002)

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.