UniProtKB/Swiss-Prot P04062: Variant p.Phe252Ile

Glucosylceramidase
Gene: GBA
Chromosomal location: 1q21
Variant information

Variant position:  252
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 have been found in patients and disease-association is reported in literature. However, this classification is not a definitive assessment of variant pathogenicity.
  • Polymorphism: No disease-association has been reported.
  • Unclassified: Variants have been found in patients but disease-association remains unclear.

Residue change:  From Phenylalanine (F) to Isoleucine (I) at position 252 (F252I, p.Phe252Ile).
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 aromatic (F) to medium size and hydrophobic (I)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  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:  In GD; type 2; gene conversion.
Any additional useful information about the variant.

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



Sequence information

Variant position:  252
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:   GKGSLKGQPGDIYHQTWARY  F VKFLDAYAEHKLQFWAVTAE
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.

Residue conservation: 
The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         GKGSLKGQPGDIYHQTWARYFVKFLDAYAEHKLQFWAVTAE

Chimpanzee                    GKGSLKGQPGDIYHQTWARYFVKFLDAYAEHKLQFWAVTAE

Mouse                         GKGSLKGQPGDIFHQTWANYFVKFLDAYAKYGLRFWAVTAE

Pig                           GKGTLKGHPGDRYHQTWAKYFVKFLDAYAEHNLHFWAVTAE

Bovine                        GKGTLKGQAGDLYHKTWARYFVKFLDAYAEHKLRFWAVTAE

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.

TypePositionsDescription
Chain 40 – 536 Glucosylceramidase
Helix 243 – 261


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;

Identification of two novel and four uncommon missense mutations among Chinese Gaucher disease patients.
Choy F.Y.M.; Humphries M.L.; Shi H.;
Am. J. Med. Genet. 71:172-178(1997)
Cited for: VARIANTS GD VAL-76; GLU-85; TRP-87; TRP-159; SER-227; ILE-252 AND PRO-483;

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 GD TRP-87; GLU-234; ARG-241; ILE-252; ASN-310; LEU-391 AND SER-409;

Mutation prevalence among 47 unrelated Japanese patients with Gaucher disease: identification of four novel mutations.
Ida H.; Rennert O.M.; Kawame H.; Maekawa K.; Eto Y.;
J. Inherit. Metab. Dis. 20:67-73(1997)
Cited for: VARIANTS GD VAL-228; ILE-252; GLY-405; HIS-448; GLN-452; PRO-483 AND CYS-535;

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: VARIANTS GD ARG-241; CYS-244; ILE-252; 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 GD TRP-87; ASN-118; THR-129; ASP-156; GLN-159; TRP-159; LEU-170; ILE-173; CYS-209; PRO-209; SER-227; THR-229; PRO-235; ARG-241; ILE-252; GLN-296; CYS-324; THR-380; MET-408; SER-409; SER-416; LEU-433; TYR-438; HIS-448; PRO-483 AND CYS-502; VARIANT LYS-365;

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.