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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O15305: Variant p.Gln37His

Phosphomannomutase 2
Gene: PMM2
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Variant information Variant position: help 37
Type of variant: help LP/P [Disclaimer]
Residue change: help From Glutamine (Q) to Histidine (H) at position 37 (Q37H, p.Gln37His).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and polar.
BLOSUM score: help 0
Variant description: help In CDG1A; partial loss of activity.


Sequence information Variant position: help 37
Protein sequence length: help 246
Location on the sequence: help LTAPRQKITKEMDDFLQKLR Q KIKIGVVGGSDFEKVQEQLG
Residue conservation: help 
Human                         LTAPRQKITKEMDDFLQKLRQKIKIGVVGGSDFEKVQEQLG

Mouse                         LTAPRQKITEEMDGFLQKLRQKTKIGVVGGSDFEKLQEQLG

Bovine                        LTAPRQKITKDMDCFLQKLRQKIKIGVVGGSDFEKVQEQLG

Slime mold                    LTKPRNAITNEMKELLASLRTKIKIGVVGGSNFNKIKEQLG
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 2 – 246 Phosphomannomutase 2
Binding site 21 – 21



Literature citations
A new insight into PMM2 mutations in the French population.
Le Bizec C.; Vuillaumier-Barrot S.; Barnier A.; Dupre T.; Durand G.; Seta N.;
Hum. Mutat. 25:504-505(2005)
Cited for: VARIANTS CDG1A TYR-9; SER-20; ARG-32; HIS-37; LEU-44; TYR-65; SER-69; PHE-103; VAL-108; LEU-113; LEU-119; GLN-123; MET-129; ALA-131; THR-132; PHE-132; LYS-139; CYS-141; HIS-141; THR-153; SER-157; TRP-162; VAL-176; HIS-177; SER-214; SER-226; MET-231; ARG-237; MET-237 AND SER-241; VARIANTS ARG-42 AND ALA-197; CHARACTERIZATION OF VARIANTS CDG1A SER-20; HIS-37; PHE-132; LYS-139; CYS-141; HIS-141; VAL-176 AND HIS-177;
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.