UniProtKB/Swiss-Prot P16278: Variant p.Ser532Gly

Beta-galactosidase
Gene: GLB1
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Variant information Variant position:

532 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

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:

From Serine (S) to Glycine (G) at position 532 (S532G, p.Ser532Gly). 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 small size and polar (S) to glycine (G) 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
Polymorphism:

The sequence shown in this entry differs from the translation of the reference genome assembly (GRCh38/hg38) due to a polymorphic change creating a Cys at position 521 in the reference genome (PubMed:16641997). The sequence shown in this entry is that of variant p.Cys521Arg, which has a frequency of about 99% in the human population according to the Genome Aggregation Database (gnomAD v4.1.0), and gives rise to a fully active beta-galactosidase (PubMed:15714521, PubMed:16941474, PubMed:17664528). Additional information on the polymorphism described.
Variant description:

Results in near-normal activity corresponding to 60%-100% of the wild-type depending on the expression system. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs73826339 [ dbSNP | Ensembl ]

Sequence information Variant position:

532 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:

FPLDTEDAVRSHLGGWGHRD S GHHDEAWAHNSSNYTLPAFY 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                         FPLDTEDAVRSHLGGWGHRDSGHHD-EAWAHNSSNYTLPAFY

                              FPLNTEDAVRSHLGGWHGPNNGRHD-KTFAHRSSNYTLPAF

Mouse                         FPLNTEAMVRNHLWGREASDEGHLD-GRSTSNSSDLILPTF

Bovine                        FPLDMEDAVRSHLGTWGGRDRGYHN-KARAHSPPTYALPTF

Cat                           FPLDTEDAVRSHLGGWHGRNHGRQDNKAFAHHSSNYTLPAF

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	29 – 677	Beta-galactosidase
Glycosylation	542 – 542	N-linked (GlcNAc...) asparagine
Glycosylation	545 – 545	N-linked (GlcNAc...) asparagine

Literature citations
Novel missense mutations in beta-galactosidase that result in GM1-gangliosidosis.
Hilson W.L.; Okamura-Oho Y.; Zhang S.; Clarke J.T.R.; Mahuran D.; Callahan J.W.;
Cited for: VARIANTS GM1G1 SER-148 AND ALA-216; VARIANT GM1G3 TYR-214; VARIANT GLY-532; Six novel beta-galactosidase gene mutations in Brazilian patients with GM1-gangliosidosis.
Silva C.M.D.; Severini M.H.; Sopelsa A.; Coelho J.C.; Zaha A.; d'Azzo A.; Giugliani R.;
Hum. Mutat. 13:401-409(1999)
Cited for: VARIANTS GM1G1 HIS-59; SER-121; CYS-208; MET-240 AND ASN-491; VARIANTS LEU-10; CYS-521 AND GLY-532; Characterization of beta-galactosidase mutations Asp332-->Asn and Arg148-->Ser, and a polymorphism, Ser532-->Gly, in a case of GM1 gangliosidosis.
Zhang S.; Bagshaw R.; Hilson W.; Oho Y.; Hinek A.; Clarke J.T.R.; Hinek A.; Callahan J.W.;
Biochem. J. 348:621-632(2000)
Cited for: VARIANTS GM1G1 SER-148 AND ASN-332; VARIANT GLY-532; CHARACTERIZATION OF VARIANT GLY-532; Twenty-one novel mutations in the GLB1 gene identified in a large group of GM1-gangliosidosis and Morquio B patients: possible common origin for the prevalent p.R59H mutation among Gypsies.
Santamaria R.; Chabas A.; Coll M.J.; Miranda C.S.; Vilageliu L.; Grinberg D.;
Hum. Mutat. 27:1060-1060(2006)
Cited for: VARIANTS GM1G1 CYS-59; HIS-59; SER-136; VAL-151; PRO-173; CYS-199; ASP-272; ASN-346; CYS-347; PRO-420; ARG-422; ASN-441 AND CYS-590; VARIANT GM1G2 SER-264; VARIANTS GM1G3 HIS-201 AND LYS-420; VARIANTS MPS4B CYS-83; CYS-444; SER-494 AND ALA-500; VARIANTS PHE-436; CYS-521 AND GLY-532; 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; CHARACTERIZATION OF VARIANTS CYS-521 AND 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.