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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P43235: Variant p.Ala277Val

Cathepsin K
Gene: CTSK
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Variant information Variant position: help 277 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] 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 Alanine (A) to Valine (V) at position 277 (A277V, p.Ala277Val). 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 Change from small size and hydrophobic (A) to medium size and hydrophobic (V) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 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
Variant description: help In PKND. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 277 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 329 The length of the canonical sequence.
Location on the sequence: help QFYSKGVYYDESCNSDNLNH A VLAVGYGIQKGNKHWIIKNS 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                         QFYSKGVYYDESCNSDNLNHAVLAVGYGIQKGNKHWIIKNS

                              QFYSKGVYYDENCNSDNLNHAVLAVGYGIQKGNKHWIIKNS

Rhesus macaque                QFYSKGVYYDESCNSDNLNHAVLAVGYGIQKGNKHWIIKNS

Mouse                         QFYSRGVYYDENCDRDNVNHAVLVVGYGTQKGSKHWIIKNS

Rat                           QFYSRGVYYDENCDRDNVNHAVLVVGYGTQKGNKYWIIKNS

Pig                           QFYSKGVYYDENCNSDNLNHAVLAVGYGIQKGKKHWIIKNS

Bovine                        QFYRKGVYYDENCNSDNLNHAVLAVGYGIQKGNKHWIIKNS

Rabbit                        QFYSKGVYYDENCSSDNVNHAVLAVGYGIQKGNKHWIIKNS

Chicken                       QFYSRGVYYDTGCNPENINHAVLAVGYGAQKGTKHWIIKNS
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 115 – 329 Cathepsin K
Active site 276 – 276
Active site 296 – 296
Disulfide bond 269 – 318
Beta strand 276 – 286



Literature citations
Paternal uniparental disomy for chromosome 1 revealed by molecular analysis of a patient with pycnodysostosis.
Gelb B.D.; Willner J.P.; Dunn T.M.; Kardon N.B.; Verloes A.; Poncin J.; Desnick R.J.;
Am. J. Hum. Genet. 62:848-854(1998)
Cited for: VARIANT PKND VAL-277; Novel Compound Heterozygous Mutations in the Cathepsin K Gene in Japanese Female Siblings with Pyknodysostosis.
Matsushita M.; Kitoh H.; Kaneko H.; Mishima K.; Itoh Y.; Hattori T.; Ishiguro N.;
Mol. Syndromol. 2:254-258(2012)
Cited for: VARIANTS PKND PRO-122 AND VAL-277;
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.