Variant position: 277 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 329 The length of the canonical sequence.
Location on the 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.
Human QFYSKGVYYDESCNSDNLNH AVLAVGYGIQKGNKHWIIKNS
Rhesus macaque QFYSKGVYYDESCNSDNLNH AVLAVGYGIQKGNKHWIIKNS
Mouse QFYSRGVYYDENCDRDNVNH AVLVVGYGTQKGSKHWIIKNS
Rat QFYSRGVYYDENCDRDNVNH AVLVVGYGTQKGNKYWIIKNS
Pig QFYSKGVYYDENCNSDNLNH AVLAVGYGIQKGKKHWIIKNS
Bovine QFYRKGVYYDENCNSDNLNH AVLAVGYGIQKGNKHWIIKNS
Rabbit QFYSKGVYYDENCSSDNVNH AVLAVGYGIQKGNKHWIIKNS
Chicken QFYSRGVYYDTGCNPENINH AVLAVGYGAQKGTKHWIIKNS
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.
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;
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.