Variant position: 79 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 IHNLEASLGVHTYELAMNHL GDMTSEEVVQKMTGLKVPLSH
Rhesus macaque IHNLEASLGVHTYELAMNHL GDMTNEEVVQKMTGLKVPASH
Mouse AHNLEASLGVHTYELAMNHL GDMTSEEVVQKMTGLRIPPSR
Rat VHNLEASLGAHTYELAMNHL GDMTSEEVVQKMTGLRVPPSR
Pig IHNLEASLGVHTYELAMNHL GDMTSEEVVQKMTGLKVPPSH
Bovine IHNLEASLGVHTYELAMNHL GDMTSEEVVQKMTGLKVPASR
Rabbit IHNLEASLGVHTYELAMNHL GDMTSEEVVQKMTGLKVPPSR
Chicken CPQRGARLGKHSFQLAMNYL GDMTSEEVVRTMTGLRVPRSR
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.
Type Positions Description
16 – 114 Activation peptide
77 – 80
Mutations of CTSK result in pycnodysostosis via a reduction in cathepsin K protein.
Ho N.; Punturieri A.; Wilkin D.; Szabo J.; Johnson M.; Whaley J.; Davis J.; Clark A.; Weiss S.; Francomano C.;
J. Bone Miner. Res. 14:1649-1653(1999)
Cited for: VARIANT PKND GLU-79;
Cathepsin K gene mutations and 1q21 haplotypes in at patients with pycnodysostosis in an outbred population.
Haagerup A.; Hertz J.M.; Christensen M.F.; Binderup H.; Kruse T.A.;
Eur. J. Hum. Genet. 8:431-436(2000)
Cited for: VARIANTS PKND GLU-79 AND PRO-309;
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.