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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P45452: Variant p.Trp207Gly

Collagenase 3
Gene: MMP13
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Variant information Variant position: help 207 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 Tryptophan (W) to Glycine (G) at position 207 (W207G, p.Trp207Gly). 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 large size and aromatic (W) to glycine (G) 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 MDST. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 207 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 471 The length of the canonical sequence.
Location on the sequence: help HAFPPGPNYGGDAHFDDDET W TSSSKGYNLFLVAAHEFGHS 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                         HAFPPGPNYGGDAHFDDDETWTSSSKGYNLFLVAAHEFGHS

Mouse                         HAFPPGPNYGGDAHFDDDETWTSSSKGYNLFIVAAHELGHS

Bovine                        HAFPPGPNYGGDAHFDDDETWTSSSKGYNLFLVAAHEFGHS

Rabbit                        HAFPPGPNYGGDAHFDDDETWTSSSKGYNLFLVAAHEFGHS

Horse                         HAFPPGPNYGGDAHFDDDETWTSSSKGYNLFLVAAHEFGHS
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 104 – 471 Collagenase 3
Region 176 – 246 Interaction with TIMP2
Active site 223 – 223
Binding site 187 – 187
Binding site 194 – 194
Binding site 196 – 196
Binding site 198 – 198
Binding site 200 – 200
Binding site 202 – 202
Binding site 203 – 203
Binding site 205 – 205
Binding site 205 – 205
Binding site 222 – 222
Binding site 226 – 226
Mutagenesis 223 – 223 E -> A. Abolishes enzyme activity.
Beta strand 207 – 215



Literature citations
MMP13 mutations are the cause of recessive metaphyseal dysplasia, Spahr type.
Bonafe L.; Liang J.; Gorna M.W.; Zhang Q.; Ha-Vinh R.; Campos-Xavier A.B.; Unger S.; Beckmann J.S.; Le Bechec A.; Stevenson B.; Giedion A.; Liu X.; Superti-Furga G.; Wang W.; Spahr A.; Superti-Furga A.;
Am. J. Med. Genet. A 164A:1175-1179(2014)
Cited for: INVOLVEMENT IN MDST; VARIANT MDST GLY-207;
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.