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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P00558: Variant p.Asp285Val

Phosphoglycerate kinase 1
Gene: PGK1
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Variant information Variant position: help 285
Type of variant: help LP/P [Disclaimer]
Residue change: help From Aspartate (D) to Valine (V) at position 285 (D285V, p.Asp285Val).
Physico-chemical properties: help Change from medium size and acidic (D) to medium size and hydrophobic (V)
BLOSUM score: help -3
Variant description: help In PGK1D; with chronic hemolytic anemia; variant Herlev; 50% of activity.
Other resources: help


Sequence information Variant position: help 285
Protein sequence length: help 417
Location on the sequence: help IVKDLMSKAEKNGVKITLPV D FVTADKFDENAKTGQATVAS
Residue conservation: help 
Human                         IVKDLMSKAEKNGVKITLPVDFVTADKFDENAKTGQATVAS

Chimpanzee                    IVKDLMSKAEKNGVKITLPVDFVTADKFDENAKTGQATVAS

Mouse                         IVKDLMSKAEKNGVKITLPVDFVTADKFDENAKTGQATVAS

Rat                           IVKDLMAKAEKNGVKITLPVDFVTADKFDENAKTGQATVAS

Pig                           IVKDLMSKAEKNGVKITLPVDFVTADKFDENAKIGQATVAS

Bovine                        IVKDLMSKADKNGVKITLPVDFVTADKFDENAKTGQATVAS

Horse                         IVKNLMSKAEKNGVKITLPVDFVTADKFDENAKTGQATVAS
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 2 – 417 Phosphoglycerate kinase 1
Modified residue 267 – 267 N6-acetyllysine
Modified residue 291 – 291 N6-acetyllysine
Beta strand 285 – 293



Literature citations
A phosphoglycerate kinase mutant (PGK Herlev; D285V) in a Danish patient with isolated chronic hemolytic anemia: mechanism of mutation and structure-function relationships.
Valentin C.; Birgens H.; Craescu C.T.; Broedum-Nielsen K.; Cohen-Solal M.;
Hum. Mutat. 12:280-287(1998)
Cited for: VARIANT PGK1D VAL-285;
Disclaimer: 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.