UniProtKB/Swiss-Prot Q13231: Variant p.Gly102Ser

Chitotriosidase-1
Gene: CHIT1
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Variant information Variant position:

102 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 Glycine (G) to Serine (S) at position 102 (G102S, p.Gly102Ser). 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 small size and polar (S) 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:

A 24 bp duplication in exon 10 leads to the activation of an alternative splice site and the production of an inactive protein resulting in chitotriosidase deficiency [MIM:614122]. About 6% of the population are deficient for CHIT1 activity, while 35% are carriers and show reduced enzyme levels. People with CHIT1 deficiency appear perfectly healthy. Additional information on the polymorphism described.
Variant description:

Common variant detected in patients with Gaucher disease type 1 as well as healthy individuals; slightly reduced activity towards 4-methylumbelliferyl-chitotrioside but no effect on activity towards 4-methylumbelliferyl-deoxychitobioside. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs2297950 [ dbSNP | Ensembl ]

Sequence information Variant position:

102 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

466 The length of the canonical sequence.
Location on the sequence:

GLKKMNPKLKTLLAIGGWNF G TQKFTDMVATANNRQTFVNS 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                         GLKKMNPKLKTLLAIGGWNFGTQKFTDMVATANNRQTFVNS

Mouse                         SLKTKNPKLKTLLAVGGWTFGTQKFTDMVATASNRQTFVKS

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	22 – 466	Chitotriosidase-1
Domain	22 – 388	GH18
Glycosylation	100 – 100	N-linked (GlcNAc...) asparagine; in variant S-102
Alternative sequence	87 – 105	Missing. In isoform 4.

Literature citations
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1); VARIANTS SER-102 AND GLY-442; Type 1 Gaucher disease: null and hypomorphic novel chitotriosidase mutations-implications for diagnosis and therapeutic monitoring.
Grace M.E.; Balwani M.; Nazarenko I.; Prakash-Cheng A.; Desnick R.J.;
Hum. Mutat. 28:866-873(2007)
Cited for: VARIANTS LYS-74 AND SER-102; Common G102S polymorphism in chitotriosidase differentially affects activity towards 4-methylumbelliferyl substrates.
Bussink A.P.; Verhoek M.; Vreede J.; Ghauharali-van der Vlugt K.; Donker-Koopman W.E.; Sprenger R.R.; Hollak C.E.; Aerts J.M.; Boot R.G.;
FEBS J. 276:5678-5688(2009)
Cited for: CHARACTERIZATION OF VARIANT SER-102; SUBCELLULAR LOCATION; CATALYTIC ACTIVITY; GLYCOSYLATION AT ASN-100;

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.