Variant position: 205 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 392 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 VASLGGTPLYMDRQGIDILY SGSQKALNAPPGTSLISFSDK
Mouse VASLGGVPIYMDQQGIDIMY SSSQKVLNAPPGISLISFNDK
Rat VASLGGVPIYMDQQGIDILY SGSQKVLNAPPGISLISFNDK
Rabbit VASLGGAPIYMDQQGIDVLY SGSQKALNAPPGTSLISFSDK
Cat VASLCGTPIYMDQQGIDVLY SGSQKVLNSPPGTSLISFSDK
Slime mold VAALGGVPVFVDDWKIDACY TGTQKCLSGPPGISPLTFSNA
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 – 392 Serine--pyruvate aminotransferase
209 – 209 N6-(pyridoxal phosphate)lysine
225 – 225 N6-acetyllysine; alternate
225 – 225 N6-succinyllysine; alternate
209 – 209 K -> R. Affects pyridoxal phosphate binding; loss of alanine--glyoxylate aminotransferase activity.
201 – 209
Primary hyperoxaluria type I due to a point mutation of T to C in the coding region of the serine:pyruvate aminotransferase gene.
Nishiyama K.; Funai T.; Katafuchi R.; Hattori F.; Onoyama K.; Ichiyama A.;
Biochem. Biophys. Res. Commun. 176:1093-1099(1991)
Cited for: VARIANT HP1 PRO-205;
Consequences of missense mutations for dimerization and turnover of alanine:glyoxylate aminotransferase: study of a spectrum of mutations.
Coulter-Mackie M.B.; Lian Q.;
Mol. Genet. Metab. 89:349-359(2006)
Cited for: CHARACTERIZATION OF VARIANTS HP1 ARG-41; VAL-41; GLU-82; ARG-108; ASP-112; ARG-156; ARG-161; ARG-170; TYR-173; ASN-183; PHE-187; PRO-205 AND LEU-218; MUTAGENESIS OF LYS-209; SUBUNIT;
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