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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P51688: Variant p.Arg456His

N-sulphoglucosamine sulphohydrolase
Gene: SGSH
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Variant information Variant position: help 456 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Arginine (R) to Histidine (H) at position 456 (R456H, p.Arg456His). 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 large size and basic (R) to medium size and polar (H) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 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 Does not affect enzyme activity; cells transfected with the mutant enzyme contain a 62 kDa precursor and a 56 kDa mature form as cells transfected with the wild-type enzyme. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 456 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 502 The length of the canonical sequence.
Location on the sequence: help WELYDRSRDPHETQNLATDP R FAQLLEMLRDQLAKWQWETH 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: 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 21 – 502 N-sulphoglucosamine sulphohydrolase
Helix 455 – 457



Literature citations
Molecular defects in Sanfilippo syndrome type A.
Blanch L.; Weber B.; Guo X.-H.; Scott H.S.; Hopwood J.J.;
Hum. Mol. Genet. 6:787-791(1997)
Cited for: VARIANTS MPS3A; VARIANT HIS-456; Identification of molecular defects in Italian Sanfilippo A patients including 13 novel mutations.
di Natale P.; Balzano N.; Esposito S.; Villani G.R.D.;
Hum. Mutat. 11:313-320(1998)
Cited for: VARIANTS MPS3A ASN-40; THR-44; TRP-66; CYS-74; ARG-122; LEU-128; PRO-146; GLN-150; ASN-179; CYS-182; ARG-227; LYS-369 AND CYS-377; VARIANTS ALA-226 AND HIS-456; Mutational analysis of Sanfilippo syndrome type A (MPS IIIA): identification of 13 novel mutations.
Beesley C.E.; Young E.P.; Vellodi A.; Winchester B.G.;
J. Med. Genet. 37:704-707(2000)
Cited for: VARIANTS MPS3A GLY-32; TRP-66; CYS-74; PRO-79; TYR-84; ARG-122; TRP-150; ASN-235; HIS-245; ASN-273; PRO-298; SER-322; LYS-355; HIS-374; GLN-ARG-381 INS; TRP-433; 436-TRP--LEU-438 DEL AND PHE-486; VARIANT HIS-456; Identification and characterization of mutations underlying Sanfilippo syndrome type A (mucopolysaccharidosis type IIIA).
Lee-Chen G.J.; Lin S.P.; Ko M.H.; Chuang C.K.; Chen C.P.; Lee H.H.; Cheng S.C.; Shen C.H.; Tseng K.L.; Li C.L.;
Clin. Genet. 61:192-197(2002)
Cited for: VARIANTS MPS3A LYS-42; ASN-235; SER-293 AND CYS-377; VARIANT HIS-456; CHARACTERIZATION OF VARIANTS MPS3A LYS-42; ASN-235; SER-293 AND CYS-377; CHARACTERIZATION OF VARIANT HIS-456; Analysis of Sanfilippo A gene mutations in a large pedigree.
Di Natale P.; Villani G.R.D.; Di Domenico C.; Daniele A.; Dionisi Vici C.; Bartuli A.;
Clin. Genet. 63:314-318(2003)
Cited for: VARIANTS MPS3A LEU-128; LYS-369 AND GLN-433; VARIANT HIS-456; An adult Sanfilippo type A patient with homozygous mutation R206P in the sulfamidase gene.
Gabrielli O.; Coppa G.V.; Bruni S.; Villani G.R.D.; Pontarelli G.; Di Natale P.;
Am. J. Med. Genet. A 133:85-89(2005)
Cited for: VARIANT MPS3A PRO-206; VARIANT HIS-456; CHARACTERIZATION OF VARIANT MPS3A PRO-206;
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.