UniProtKB/Swiss-Prot P54802: Variant p.Arg565Pro

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 565 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: LP/P [Disclaimer: Variants classification is intended for research purposes only, not for clinical and diagnostic use. The label disease variant is assigned according to literature reports on probable disease-association that can be based on theoretical reasons. This label must not be considered as a definitive proof for the pathogenic role of a variant.] 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: From Arginine (R) to Proline (P) at position 565 (R565P, p.Arg565Pro). 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 hydrophobic (P) 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
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.

• Variant rs104894598 [ dbSNP | Ensembl ]

Sequence information

Variant position: 565 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 743 The length of the canonical sequence.
Location on the sequence: TSAPSLATSPAFRYDLLDLT R QAVQELVSLYYEEARSAYLS 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.

Type	Positions	Description
Chain	24 – 743	Alpha-N-acetylglucosaminidase 82 kDa form
Chain	59 – 743	Alpha-N-acetylglucosaminidase 77 kDa form
Helix	554 – 584

Literature citations

Sanfilippo type B syndrome (mucopolysaccharidosis III B): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes.
Weber B.; Guo X.-H.; Kleijer W.J.; van de Kamp J.J.P.; Poorthuis B.J.H.M.; Hopwood J.J.;
Eur. J. Hum. Genet. 7:34-44(1999)
Cited for: VARIANTS MPS3B LEU-48; SER-69; PRO-227; ARG-248; ARG-292; PHE-334; SER-410; ARG-414; LEU-521; PRO-560; PRO-565; TRP-565; PHE-617; CYS-643; GLU-650; CYS-674 AND PRO-676; VARIANT GLY-737; Molecular analysis of the alpha-N-acetylglucosaminidase gene in seven Japanese patients from six unrelated families with mucopolysaccharidosis IIIB (Sanfilippo type B), including two novel mutations.
Tanaka A.; Kimura M.; Lan H.T.N.; Takaura N.; Yamano T.;
J. Hum. Genet. 47:484-487(2002)
Cited for: VARIANTS MPS3B MET-241; LEU-314; TRP-482; PRO-565 AND TRP-565; Sanfilippo type B syndrome: five patients with an R565P homozygous mutation in the alpha-N-acetylglucosaminidase gene from the Okinawa islands in Japan.
Chinen Y.; Tohma T.; Izumikawa Y.; Uehara H.; Ohta T.;
J. Hum. Genet. 50:357-359(2005)
Cited for: VARIANT MPS3B PRO-565;