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UniProtKB/Swiss-Prot Q8TE56: Variant p.Asn1094Ser

A disintegrin and metalloproteinase with thrombospondin motifs 17
Gene: ADAMTS17
Variant information

Variant position:  1094
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 Asparagine (N) to Serine (S) at position 1094 (N1094S, p.Asn1094Ser).
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:  Change from medium size and polar (N) to small size and polar (S)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  1
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:  1094
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  1095
The length of the canonical sequence.

Location on the sequence:   QRCCQTCRDFYANKMRQPPP  N S
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.

Chain 224 – 1095 A disintegrin and metalloproteinase with thrombospondin motifs 17
Alternative sequence 746 – 1095 Missing. In isoform 2.

Literature citations

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)

Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature.
Morales J.; Al-Sharif L.; Khalil D.S.; Shinwari J.M.; Bavi P.; Al-Mahrouqi R.A.; Al-Rajhi A.; Alkuraya F.S.; Meyer B.F.; Al Tassan N.;
Am. J. Hum. Genet. 85:558-568(2009)

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.