UniProtKB/Swiss-Prot P04062: Variant p.Gly241Arg

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 241 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 Glycine (G) to Arginine (R) at position 241 (G241R, p.Gly241Arg). 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 glycine (G) to large size and basic (R) 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 GD1, GD2 and GD3; severely decreased glucosylceramidase activity. Any additional useful information about the variant.
Other resources: Links to websites of interest for the variant.

• Variant rs409652 [ dbSNP | Ensembl ]

Sequence information

Variant position: 241 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 536 The length of the canonical sequence.
Location on the sequence: PTWLKTNGAVNGKGSLKGQP G DIYHQTWARYFVKFLDAYAE 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	40 – 536	Lysosomal acid glucosylceramidase

Literature citations

A novel transcript from a pseudogene for human glucocerebrosidase in non-Gaucher disease cells.
Imai K.; Nakamura M.; Yamada M.; Asano A.; Yokoyama S.; Tsuji S.; Ginns E.I.;
Gene 136:365-368(1993)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS LONG AND 3); VARIANTS GD ARG-223; GLY-230; PRO-235; ARG-241; ILE-252 AND ARG-364; VARIANTS GLY-310 AND HIS-368; Glucocerebrosidase mutations in Gaucher disease.
Beutler E.; Demina A.; Gelbart T.;
Mol. Med. 1:82-92(1994)
Cited for: VARIANTS GD1 ASP-215; THR-221; ARG-241; GLN-296; CYS-324; GLY-417 AND ASN-419; Identification and expression of acid beta-glucosidase mutations causing severe type 1 and neurologic type 2 Gaucher disease in non-Jewish patients.
Grace M.E.; Desnick R.J.; Pastores G.M.;
J. Clin. Invest. 99:2530-2537(1997)
Cited for: VARIANTS GD1 TRP-87; GLU-234; ASN-310; LEU-391 AND SER-409; VARIANTS GD2 ARG-241 AND ILE-252; CHARACTERIZATION OF VARIANTS GD1 TRP-87; GLU-234; ASN-310; LEU-391 AND SER-409; CHARACTERIZATION OF VARIANT GD2 ARG-241; Mutation analysis of Gaucher disease patients from Argentina: high prevalence of the RecNciI mutation.
Cormand B.; Harboe T.L.; Gort L.; Campoy C.; Blanco M.; Chamoles N.; Chabas A.; Vilageliu L.; Grinberg D.;
Am. J. Med. Genet. 80:343-351(1998)
Cited for: VARIANTS GD1 TRP-87; TRP-159; SER-200; ARG-241; ASP-304; CYS-324; SER-409; ASN-438; ILE-450 AND PRO-483; VARIANT GD2 HIS-448; Glucocerebrosidase mutations among Chinese neuronopathic and non-neuronopathic Gaucher disease patients.
Choy F.Y.M.; Wong K.; Shi H.P.;
Am. J. Med. Genet. 84:484-486(1999)
Cited for: VARIANT GD1 CYS-244; VARIANTS GD2 ILE-252 AND PRO-483; VARIANTS GD3 ARG-241; HIS-448 AND PRO-483; Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease.
Koprivica V.; Stone D.L.; Park J.K.; Callahan M.; Frisch A.; Cohen I.J.; Tayebi N.; Sidransky E.;
Am. J. Hum. Genet. 66:1777-1786(2000)
Cited for: VARIANTS GD1 TRP-87; ASN-118; THR-129; ASP-156; GLN-159; TRP-159; LEU-170; ILE-173; CYS-209; PRO-209; SER-227; PRO-235; ARG-241; ILE-252; GLN-296; CYS-324; LYS-365; THR-380; MET-408; SER-409; SER-416; LEU-433; TYR-438; HIS-448; PRO-483 AND CYS-502; VARIANT GD2 GLN-159; VARIANTS GD3 THR-229; HIS-448; PRO-483 AND CYS-502; Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian Gaucher patients.
Filocamo M.; Mazzotti R.; Stroppiano M.; Seri M.; Giona F.; Parenti G.; Regis S.; Corsolini F.; Zoboli S.; Gatti R.;
Hum. Mutat. 20:234-235(2002)
Cited for: VARIANTS GD1 THR-198; CYS-209; PRO-209; ARG-241; ILE-252; CYS-324; HIS-324; CYS-351; ASN-438; HIS-448; CYS-457; PRO-485 AND ARG-490; VARIANTS GD2 CYS-170; PRO-235; ARG-241; ARG-270 AND ILE-400; VARIANTS GD3 LEU-146; SER-227; ARG-241; ILE-252; CYS-324; GLY-392 AND HIS-448; Identification and functional characterization of five novel mutant alleles in 58 Italian patients with Gaucher disease type 1.
Miocic S.; Filocamo M.; Dominissini S.; Montalvo A.L.; Vlahovicek K.; Deganuto M.; Mazzotti R.; Cariati R.; Bembi B.; Pittis M.G.;
Hum. Mutat. 25:100-100(2005)
Cited for: VARIANTS GD1 ASN-63; SER-158; TRP-159; CYS-170; LEU-221; GLU-230; ARG-241; CYS-324; SER-409; ASN-438; LEU-440; HIS-448; CYS-457; ASP-460; PRO-483 AND ARG-490; CHARACTERIZATION OF VARIANTS GD1 ASN-63; SER-158; LEU-221; GLU-230; ASP-460 AND ARG-490; Gaucher disease: Biochemical and molecular findings in 141 patients diagnosed in Greece.
Dimitriou E.; Moraitou M.; Cozar M.; Serra-Vinardell J.; Vilageliu L.; Grinberg D.; Mavridou I.; Michelakakis H.;
Mol. Genet. Metab. Rep. 24:100614-100614(2020)
Cited for: VARIANTS GD1 GLN-87; LEU-120; HIS-155; TRP-159; SER-174; PRO-214; ARG-223; ARG-241; ILE-252; ILE-270; GLN-294; ASN-322; VAL-348; ARG-350; SER-409; HIS-448; PRO-483; TYR-501; LYS-521 AND CYS-535; VARIANTS GD2 TRP-159; ARG-241; GLN-294; HIS-448 AND PRO-483; VARIANTS GD3 CYS-147; GLN-294; HIS-448 AND PRO-483;