Variant position: 90 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 259 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 ILEELGQEWVPVESSWRLNE RHYGALIGLNREQMALNHGEE
Mouse ILEELGQEWVPVESSWRLNE RHYGALIGLNREKMALNHGEE
Bovine ILEELGQEWVPVESSWRLNE RHYGALISLNREQMALNHGEE
Rabbit ILEELGQEWVPVESSWRLNE RHYGALIGLNREKMALNHGEE
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
2 – 259 Bisphosphoglycerate mutase
89 – 92 Substrate binding
89 – 89 Proton donor/acceptor
100 – 100 Substrate
Isolation, characterization, and structure of a mutant 89 ArgTO: bisphosphoglycerate mutase. Implication of the active site in the mutation.
Rosa R.; Blouquit Y.; Calvin M.C.; Prome D.; Prome J.C.; Rosa J.;
J. Biol. Chem. 264:7837-7843(1989)
Cited for: PARTIAL PROTEIN SEQUENCE; IDENTIFICATION BY MASS SPECTROMETRY; IDENTIFICATION OF VARIANT ECYT8 CYS-90; CHARACTERIZATION OF VARIANT ECYT8 CYS-90; INVOLVEMENT IN ECYT8;
Compound heterozygosity in a complete erythrocyte bisphosphoglycerate mutase deficiency.
Lemarchandel V.; Joulin V.; Valentin C.; Rosa R.; Galacteros F.; Rosa J.; Cohen-Solal M.;
Cited for: VARIANT ECYT8 CYS-90;
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