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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P03956: Variant p.Ile191Val

Interstitial collagenase
Gene: MMP1
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Variant information Variant position: help 191 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Isoleucine (I) to Valine (V) at position 191 (I191V, p.Ile191Val). 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 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: help 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: help Links to websites of interest for the variant.


Sequence information Variant position: help 191 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 469 The length of the canonical sequence.
Location on the sequence: help NSPFDGPGGNLAHAFQPGPG I GGDAHFDEDERWTNNFREYN 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                         NSPFDGPGGNLAHAFQPG--PGIGGDAHFDEDERWTNNFREYN

Pig                           NSPFDGPGGNLAHAFQPG--PGIGGDAHFDEDERWTKNFRD

Bovine                        NSPFDGPGGNLAHAFQPG--AGIGGDAHFDDDEWWTSNFQD

Rabbit                        NSPFDGPEGQLAHAFQPG--LGIGGDVHFDEDDRWTKDFRN

Horse                         NSPFDGPGGNLAHAFQPG--PRIGGDAHFDEDETWTSNFRN

Baker's yeast                 -APSVNPAAWVAIAFVLSMLLNLFGARGFAESEFYMSIFKI
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 100 – 469 Interstitial collagenase
Chain 100 – 269 22 kDa interstitial collagenase
Region 98 – 276 Metalloprotease
Binding site 175 – 175
Binding site 176 – 176
Binding site 178 – 178
Binding site 180 – 180
Binding site 183 – 183
Binding site 190 – 190
Binding site 192 – 192
Binding site 194 – 194
Binding site 196 – 196
Binding site 198 – 198
Binding site 199 – 199
Binding site 201 – 201
Turn 190 – 193



Literature citations
Submission
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS VAL-191; GLN-405 AND THR-406;
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.