Variant position: 207 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 364 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 VEPEILPDGDHDLKRCQYVT EKVLAAVYKALSDHHIYLEGT
Chimpanzee AEPEILPDGDHDLKRCQYVT EKVLAAVYKALSDHHIYLEGT
Mouse VEPEILPDGDHDLKRCQYVT EKVLAAVYKALSDHHVYLEGT
Rat VEPEILPDGDHDLKRCQYVT EKVLAAVYKALSDHHVYLEGT
Rabbit VEPEILPDGDHDLKRCQYVT EKVLAAVYKALSDHHIYLEGT
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 – 364 Fructose-bisphosphate aldolase A
188 – 188 Proton acceptor
199 – 219
Brief report: inherited metabolic myopathy and hemolysis due to a mutation in aldolase A.
Kreuder J.; Borkhardt A.; Repp R.; Pekrun A.; Goettsche B.; Gottschalk U.; Reichmann H.; Schachenmayr W.; Schlegel K.; Lampert F.;
N. Engl. J. Med. 334:1100-1104(1996)
Cited for: VARIANT GSD12 LYS-207;
Human aldolase A natural mutants: relationship between flexibility of the C-terminal region and enzyme function.
Esposito G.; Vitagliano L.; Costanzo P.; Borrelli L.; Barone R.; Pavone L.; Izzo P.; Zagari A.; Salvatore F.;
Biochem. J. 380:51-56(2004)
Cited for: VARIANT GSD12 SER-347; BIOPHYSICOCHEMICAL PROPERTIES; CHARACTERIZATION OF VARIANTS GSD12 LYS-207 AND SER-347;
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