Variant position: 125 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 476 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 PFTAMVSTPENRQTFITSVI KFLRQYEFDGLDFDWEYPGSR
Mouse PFTTMVSTSQNRQTFITSVI KFLRQYGFDGLDLDWEYPGSR
Rat PFTTMVSTSQNRQTFITSVI KFLRQYGFDGLDLDWEYPGSR
Bovine PFTAMVATPENRKTFISSVI KFLHQYGFDGLDFDWEYPGFR
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
22 – 476 Acidic mammalian chitinase
22 – 390 GH18
140 – 140 Proton donor
141 – 141 Chitooligosaccharide
49 – 394
1 – 161 Missing. In isoform 3.
138 – 138 D -> A. Loss of chitinase activity. No effect on protection against apoptosis or on AKT1 activation.
113 – 130
Differential enzymatic activity of common haplotypic versions of the human acidic mammalian chitinase protein.
Seibold M.A.; Reese T.A.; Choudhry S.; Salam M.T.; Beckman K.; Eng C.; Atakilit A.; Meade K.; Lenoir M.; Watson H.G.; Thyne S.; Kumar R.; Weiss K.B.; Grammer L.C.; Avila P.; Schleimer R.P.; Fahy J.V.; Rodriguez-Santana J.; Rodriguez-Cintron W.; Boot R.G.; Sheppard D.; Gilliland F.D.; Locksley R.M.; Burchard E.G.;
J. Biol. Chem. 284:19650-19658(2009)
Cited for: VARIANTS ASP-45; ASN-47; MET-61; ARG-102; ARG-125; VAL-339; SER-354 AND GLY-432; CATALYTIC ACTIVITY; FUNCTION; CHARACTERIZATION OF VARIANTS ASP-45; ASN-47 AND MET-61;
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.