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UniProtKB/Swiss-Prot P16278: Variant p.Asp198Tyr

Beta-galactosidase
Gene: GLB1
Variant information

Variant position:  198
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LP/P [Disclaimer]
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 Aspartate (D) to Tyrosine (Y) at position 198 (D198Y, p.Asp198Tyr).
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 medium size and acidic (D) to large size and aromatic (Y)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -3
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 MPS4B; 17.4% of wild-type galactosidase activity.
Any additional useful information about the variant.



Sequence information

Variant position:  198
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  677
The length of the canonical sequence.

Location on the sequence:   GPVITVQVENEYGSYFACDF  D YLRFLQKRFRHHLGDDVVLF
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                         GPVITVQVENEYGSYFACDFDYLRFLQKRFRHHLGDDVVLF

                              GPIITMQVENEYGSYFTCDYDYLRFLQKLFHHHLGNDVLLF

Mouse                         GPIITVQVENEYGSYFACDYDYLRFLVHRFRYHLGNDVILF

Bovine                        GPIITVQVENEYGSYLSCDYDYLRFLQKRFHDHLGEDVLLF

Cat                           GPIITVQVENEYGSYFTCDYDYLRFLQRRFRDHLGGDVLLF

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 29 – 677 Beta-galactosidase
Active site 188 – 188 Proton donor
Binding site 187 – 187 Substrate
Disulfide bond 195 – 230
Alternative sequence 83 – 244 YVPWNFHEPWPGQYQFSEDHDVEYFLRLAHELGLLVILRPGPYICAEWEMGGLPAWLLEKESILLRSSDPDYLAAVDKWLGVLLPKMKPLLYQNGGPVITVQVENEYGSYFACDFDYLRFLQKRFRHHLGDDVVLFTTDGAHKTFLKCGALQGLYTTVDFGT -> LPGSCGQVVGSPSAQDEASPLSEWRASYNSA. In isoform 2.
Helix 197 – 211


Literature citations

GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase.
Hofer D.; Paul K.; Fantur K.; Beck M.; Buerger F.; Caillaud C.; Fumic K.; Ledvinova J.; Lugowska A.; Michelakakis H.; Radeva B.; Ramaswami U.; Plecko B.; Paschke E.;
Hum. Mutat. 30:1214-1221(2009)
Cited for: VARIANTS GM1G1 HIS-59; THR-132; ARG-184; ASP-190; CYS-201; HIS-201; MET-239; HIS-255; ILE-329; GLU-332; ASN-346; GLN-442 AND SER-597; VARIANTS GM1G2 GLN-68; ARG-155 AND HIS-333; VARIANTS GM1G3 MET-82; ASP-270 AND GLU-438; VARIANTS MPS4B PHE-149; TYR-198; LEU-273; ALA-397; PRO-408 AND ALA-500; CHARACTERIZATION OF VARIANTS GM1G1 THR-132; ARG-184; ASP-190; CYS-201; HIS-201; HIS-255; ILE-329; GLU-332 AND SER-597; CHARACTERIZATION OF VARIANTS GM1G2 GLN-68; ARG-155 AND HIS-333; CHARACTERIZATION OF VARIANTS GM1G3 ASP-270 AND GLU-438; CHARACTERIZATION OF VARIANTS MPS4B PHE-149; TYR-198; LEU-273; ALA-397; PRO-408 AND ALA-500; CATALYTIC ACTIVITY; FUNCTION;

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.