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UniProtKB/Swiss-Prot Q8WXS8: Variant p.Leu590Pro

A disintegrin and metalloproteinase with thrombospondin motifs 14
Gene: ADAMTS14
Variant information

Variant position:  590
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 Leucine (L) to Proline (P) at position 590 (L590P, p.Leu590Pro).
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.



Sequence information

Variant position:  590
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  1223
The length of the canonical sequence.

Location on the sequence:   GGVRSRSRSCNNPSPAYGGR  L CLGPMFEYQVCNSEECPGTY
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.

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.

TypePositionsDescription
Chain 253 – 1223 A disintegrin and metalloproteinase with thrombospondin motifs 14
Domain 552 – 607 TSP type-1 1
Disulfide bond 564 – 601
Disulfide bond 568 – 606
Disulfide bond 579 – 591


Literature citations

Characterization of ADAMTS14, a novel member of the ADAMTS metalloproteinase family.
Bolz H.; Ramirez A.; von Brederlow B.; Kubisch C.;
Biochim. Biophys. Acta 1522:221-225(2001)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM A); TISSUE SPECIFICITY; VARIANT PRO-590;

Cloning, expression analysis, and structural characterization of seven novel human ADAMTSs, a family of metalloproteinases with disintegrin and thrombospondin-1 domains.
Cal S.; Obaya A.J.; Llamazares M.; Garabaya C.; Quesada V.; Lopez-Otin C.;
Gene 283:49-62(2002)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM A); TISSUE SPECIFICITY; VARIANT PRO-590;

Cloning and characterization of ADAMTS-14, a novel ADAMTS displaying high homology with ADAMTS-2 and ADAMTS-3.
Colige A.; Vandenberghe I.; Thiry M.; Lambert C.A.; Van Beeumen J.; Li S.-W.; Prockop D.J.; Lapiere C.M.; Nusgens B.V.;
J. Biol. Chem. 277:5756-5766(2002)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 29-1223 (ISOFORMS B; C AND D); FUNCTION; ALTERNATIVE PROMOTER USAGE; VARIANT PRO-590;

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.