UniProtKB/Swiss-Prot P50281: Variant p.Ile233Val

Matrix metalloproteinase-14
Gene: MMP14
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Variant information Variant position:

233 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 Isoleucine (I) to Valine (V) at position 233 (I233V, p.Ile233Val). 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 medium size and hydrophobic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

3 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 rs17884841 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

THFDSAEPWTVRNEDLNGND I FLVAVHELGHALGLEHSSDP 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                         THFDSAEPWTVRNEDLNGNDIFLVAVHELGHALGLEHSSDP

Mouse                         THFDSAEPWTVQNEDLNGNDIFLVAVHELGHALGLEHSNDP

Rat                           THFDSAEPWTVQNEDLNGNDIFLVAVHELGHALGLEHSNDP

Pig                           THFDSAEPWTVRNEDLNGNDIFLVAVHELGHALGLEHSNDP

Bovine                        THFDSAEPWTVRNEDLNGNDIFLVAVHELGHALGLEHSNDP

Rabbit                        THFDSAEPWTVRNEDLNGNDIFLVAVHELGHALGLEHSNDP

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	112 – 582	Matrix metalloproteinase-14
Topological domain	112 – 541	Extracellular
Active site	240 – 240
Binding site	239 – 239
Binding site	243 – 243
Binding site	249 – 249
Helix	233 – 244

Literature citations
Submission
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS THR-4; LYS-6; SER-8; VAL-233; ASN-273; TRP-302 AND ILE-355;

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.