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UniProtKB/Swiss-Prot O15393: Variant p.Ser254Cys

Transmembrane protease serine 2
Variant information

Variant position:  254
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Polymorphism
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Serine (S) to Cysteine (C) at position 254 (S254C, p.Ser254Cys).
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 small size and polar (S) to medium size and polar (C)
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

Sequence information

Variant position:  254
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  492
The length of the canonical sequence.

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.



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 1 – 255 Transmembrane protease serine 2 non-catalytic chain
Topological domain 106 – 492 Extracellular
Glycosylation 249 – 249 N-linked (GlcNAc...) asparagine
Disulfide bond 244 – 365 Interchain (between non-catalytic and catalytic chains)
Mutagenesis 255 – 255 R -> Q. Loss of cleavage.

Literature citations

An integrated genetic and functional analysis of the role of type II transmembrane serine proteases (TMPRSSs) in hearing loss.
Guipponi M.; Toh M.-Y.; Tan J.; Park D.; Hanson K.; Ballana E.; Kwong D.; Cannon P.Z.F.; Wu Q.; Gout A.; Delorenzi M.; Speed T.P.; Smith R.J.H.; Dahl H.-H.M.; Petersen M.; Teasdale R.D.; Estivill X.; Park W.J.; Scott H.S.;
Hum. Mutat. 29:130-141(2008)
Cited for: VARIANTS MET-160; CYS-254; GLN-329 AND ASN-491;

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.