UniProtKB/SwissProt variant VAR

Probable phosphoglycerate mutase 4
Gene: PGAM4
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Variant information Variant position:

90
Type of variant:

LB/B
Residue change:

From Arginine (R) to Glutamine (Q) at position 90 (R90Q, p.Arg90Gln).
Physico-chemical properties:

Change from large size and basic (R) to medium size and polar (Q)
BLOSUM score:

1
Other resources:

Variant rs5959129 [ dbSNP | Ensembl ]

Sequence information Variant position:

90
Protein sequence length:

254
Location on the sequence:

VLDAIDQMWLPVVRTWRLNE R HYGGLTGLNKAETAAKHGEA
Residue conservation:

Human                         VLDAIDQMWLPVVRTWRLNERHYGGLTGLNKAETAAKHGEA

Chimpanzee                    VLDAIDQMWLPVVRTWRLNERHYGGLTALNKAETAAKHGEA

Sequence annotation in neighborhood:

Type	Positions	Description
Chain	1 – 254	Probable phosphoglycerate mutase 4
Active site	89 – 89	Proton donor/acceptor
Binding site	89 – 92
Binding site	100 – 100
Modified residue	106 – 106	N6-acetyllysine

Literature citations
Evolution of the phosphoglycerate mutase processed gene in human and chimpanzee revealing the origin of a new primate gene.
Betran E.; Wang W.; Jin L.; Long M.;
Mol. Biol. Evol. 19:654-663(2002)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS CYS-40; GLN-90 AND THR-175;

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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q8N0Y7: Variant p.Arg90Gln