UniProtKB/SwissProt variant VAR

Variant information

Variant position:

125

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 Lysine (K) to Arginine (R) at position 125 (K125R, p.Lys125Arg).

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:

Similar physico-chemical property. Both residues are large size and basic.

The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:

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

Other resources:

Links to websites of interest for the variant.

Variant rs61756687 [ dbSNP | Ensembl ]

Sequence information

Variant position:

125

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

Protein sequence length:

476

The length of the canonical sequence.

Location on the sequence:

PFTAMVSTPENRQTFITSVI K FLRQYEFDGLDFDWEYPGSR

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                         PFTAMVSTPENRQTFITSVIKFLRQYEFDGLDFDWEYPGSR

Mouse                         PFTTMVSTSQNRQTFITSVIKFLRQYGFDGLDLDWEYPGSR

Rat                           PFTTMVSTSQNRQTFITSVIKFLRQYGFDGLDLDWEYPGSR

Bovine                        PFTAMVATPENRKTFISSVIKFLHQYGFDGLDFDWEYPGFR

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 – 476	Acidic mammalian chitinase
Domain	22 – 390	GH18
Active site	140 – 140	Proton donor
Binding site	141 – 141	Chitooligosaccharide
Disulfide bond	49 – 394
Alternative sequence	1 – 161	Missing. In isoform 3.
Mutagenesis	138 – 138	D -> A. Loss of chitinase activity. No effect on protection against apoptosis or on AKT1 activation.
Helix	113 – 130

Literature citations

Differential enzymatic activity of common haplotypic versions of the human acidic mammalian chitinase protein.
Seibold M.A.; Reese T.A.; Choudhry S.; Salam M.T.; Beckman K.; Eng C.; Atakilit A.; Meade K.; Lenoir M.; Watson H.G.; Thyne S.; Kumar R.; Weiss K.B.; Grammer L.C.; Avila P.; Schleimer R.P.; Fahy J.V.; Rodriguez-Santana J.; Rodriguez-Cintron W.; Boot R.G.; Sheppard D.; Gilliland F.D.; Locksley R.M.; Burchard E.G.;
J. Biol. Chem. 284:19650-19658(2009)
Cited for: VARIANTS ASP-45; ASN-47; MET-61; ARG-102; ARG-125; VAL-339; SER-354 AND GLY-432; CATALYTIC ACTIVITY; FUNCTION; CHARACTERIZATION OF VARIANTS ASP-45; ASN-47 AND MET-61;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9BZP6: Variant p.Lys125Arg