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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P16278: Variant p.Leu162Ser

Beta-galactosidase
Gene: GLB1
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Variant information Variant position: help 162 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Leucine (L) to Serine (S) at position 162 (L162S, p.Leu162Ser). 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 medium size and hydrophobic (L) to small size and polar (S) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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: help In GM1G1; loss of galactosidase activity. Any additional useful information about the variant.


Sequence information Variant position: help 162 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 677 The length of the canonical sequence.
Location on the sequence: help KESILLRSSDPDYLAAVDKW L GVLLPKMKPLLYQNGGPVIT 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human                         KESILLRSSDPDYLAAVDKWLGVLLPKMKPLLYQNGGPVIT

                              KESIILRSSDPDYLAAVDKWLGVLLPKMKPLLYQNGGPIIT

Mouse                         KQSIVLRSSDPDYLVAVDKWLAVLLPKMKPLLYQNGGPIIT

Bovine                        KKSIVLRSSDPDYLAAVDKWLGVLLPKMRPLLYKNGGPIIT

Cat                           KESIILRSSDPDYLAAVDKWLGVLLPKMKPLLYQNGGPIIT

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 29 – 677 Beta-galactosidase
Alternative sequence 83 – 244 YVPWNFHEPWPGQYQFSEDHDVEYFLRLAHELGLLVILRPGPYICAEWEMGGLPAWLLEKESILLRSSDPDYLAAVDKWLGVLLPKMKPLLYQNGGPVITVQVENEYGSYFACDFDYLRFLQKRFRHHLGDDVVLFTTDGAHKTFLKCGALQGLYTTVDFGT -> LPGSCGQVVGSPSAQDEASPLSEWRASYNSA. In isoform 2.
Helix 152 – 169



Literature citations
Identification of 14 novel GLB1 mutations, including five deletions, in 19 patients with GM1 gangliosidosis from South America.
Santamaria R.; Blanco M.; Chabas A.; Grinberg D.; Vilageliu L.;
Clin. Genet. 71:273-279(2007)
Cited for: VARIANTS GM1G1 CYS-59; HIS-59; VAL-134; LEU-147 DEL; SER-162; CYS-208; ASP-272; 377-VAL--LYS-381 DEL; TYR-491; LEU-549 AND CYS-590; VARIANT GM1G2 HIS-201; VARIANT GM1G3 ARG-155; VARIANTS GM1-GANGLIOSIDOSIS LEU-434 AND GLU-554; Expression and characterization of 14 GLB1 mutant alleles found in GM1-gangliosidosis and Morquio B patients.
Santamaria R.; Chabas A.; Callahan J.W.; Grinberg D.; Vilageliu L.;
J. Lipid Res. 48:2275-2282(2007)
Cited for: CHARACTERIZATION OF VARIANTS GM1G1 HIS-59; SER-162; PRO-173; HIS-201; PRO-420; ASN-441 AND CYS-590; CHARACTERIZATION OF VARIANTS MPS4B CYS-83; CYS-444 AND SER-494; CHARACTERIZATION OF VARIANT GM1G3 LYS-420 AND CYS-521; CHARACTERIZATION OF VARIANT GLY-532;
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.