Variant position: 115 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 445 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 LRWKPFEIPKASQKKVDFVS GLHTLCGAGDIKSNNGLAIHI
Mouse LRWKPFEIPKASEKKVDFVS GLYTLCGAGDIKSNNGLAVHI
Caenorhabditis elegans YRWNPFPLPTKEG--VTFVD NLYTVCGGGDVISRTGLAIHQ
Drosophila LRWKPFDLPPKDGKNVNFVE GLHTVCGAGDPRSRHGLAIHI
Slime mold LRWKPFPI--TEDKPHDFVE GLITIAGAGHASVRHGLAIHI
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
1 – 445 Homogentisate 1,2-dioxygenase
98 – 98 N6-acetyllysine
112 – 115
Identification of 11 novel homogentisate 1,2 dioxygenase variants in alkaptonuria patients and establishment of a novel LOVD-based HGD mutation database.
Zatkova A.; Sedlackova T.; Radvansky J.; Polakova H.; Nemethova M.; Aquaron R.; Dursun I.; Usher J.L.; Kadasi L.;
JIMD Rep. 4:55-65(2012)
Cited for: VARIANTS AKU ARG-33; PHE-44; ARG-115; PRO-116; ALA-123; ALA-152; LEU-169; GLY-178; GLY-197; SER-219; ASN-276; ALA-360; ARG-361 AND HIS-374;
Analysis of HGD gene mutations in patients with alkaptonuria from the United Kingdom: identification of novel mutations.
Usher J.L.; Ascher D.B.; Pires D.E.; Milan A.M.; Blundell T.L.; Ranganath L.R.;
JIMD Rep. 24:3-11(2015)
Cited for: VARIANTS AKU LYS-13; ASN-18; ALA-42; GLN-53; ARG-115; PHE-120; ARG-123; ARG-161; LEU-169; ASN-171; GLY-197; SER-219; HIS-225; PRO-225; SER-230; PHE-245; ARG-270; ASN-276; GLY-300; ASP-337; LEU-359; ARG-360; ARG-361; VAL-368 AND HIS-374; VARIANT THR-172;
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.