UniProtKB/Swiss-Prot P54802: Variant p.Arg737Gly

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 737 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: LB/B 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 Glycine (G) at position 737 (R737G, p.Arg737Gly). 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 glycine (G) 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
Other resources: Links to websites of interest for the variant.

• Variant rs86312 [ dbSNP | Ensembl ]

Sequence information

Variant position: 737 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: SQPRGDTVDLAKKIFLKYYP R WVAGSW 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	723 – 740

Literature citations

The molecular basis of Sanfilippo syndrome type B.
Zhao H.G.; Li H.H.; Bach G.; Schmidtchen A.; Neufeld E.F.;
Proc. Natl. Acad. Sci. U.S.A. 93:6101-6105(1996)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA]; VARIANT GLY-737; Cloning and expression of the gene involved in Sanfilippo B syndrome (mucopolysaccharidosis III B).
Weber B.; Blanch L.; Clements P.R.; Scott H.S.; Hopwood J.J.;
Hum. Mol. Genet. 5:771-777(1996)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; PARTIAL PROTEIN SEQUENCE; CHARACTERIZATION; VARIANT GLY-737; Molecular dissection of a cosmid from a gene-rich region in 17q21 and characterization of a candidate gene for alpha-N-acetylglucosaminidase with two cDNA isoforms.
Zhao Z.; Yazdani A.; Shen Y.; Sun Z.S.; Bailey J.; Caskey C.T.; Lee C.C.;
Mamm. Genome 7:686-690(1996)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT GLY-737; The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANT GLY-737; Mucopolysaccharidosis type IIIB (Sanfilippo B): identification of 18 novel alpha-N-acetylglucosaminidase gene mutations.
Bunge S.; Knigge A.; Steglich C.; Kleijer W.J.; van Diggelen O.P.; Beck M.; Gal A.;
J. Med. Genet. 36:28-31(1999)
Cited for: VARIANTS MPS3B CYS-79; ARG-100; CYS-140; PHE-142 DEL; LEU-243; PHE-277; PRO-280; ARG-292; LYS-452; TRP-482; ARG-561; GLN-565; HIS-674 AND LYS-705; VARIANT GLY-737; 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;