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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O15305: Variant p.Pro69Ser

Phosphomannomutase 2
Gene: PMM2
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Variant information Variant position: help 69
Type of variant: help LP/P [Disclaimer]
Residue change: help From Proline (P) to Serine (S) at position 69 (P69S, p.Pro69Ser).
Physico-chemical properties: help Change from medium size and hydrophobic (P) to small size and polar (S)
BLOSUM score: help -1
Variant description: help In CDG1A.
Other resources: help


Sequence information Variant position: help 69
Protein sequence length: help 246
Location on the sequence: help FEKVQEQLGNDVVEKYDYVF P ENGLVAYKDGKLLCRQNIQS
Residue conservation: help
Human                         FEKVQEQLGNDVVEKYDYVFPENGLVAYKDGKLLCRQNIQS

Mouse                         FEKLQEQLGNDVVEKYDYVFPENGLVAYKDGKLLCKQNIQG

Bovine                        FEKVQEQLGDDVIKKYDYVFPENGLVAYRDGKLLCKQNIQG

Slime mold                    FNKIKEQLGENFINDFDYVFAENGLIAYKDGSLLEIQDIKK

Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 2 – 246 Phosphomannomutase 2
Helix 69 – 72



Literature citations
Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia).
Matthijs G.; Schollen E.; Bjursell C.; Erlandson A.; Freeze H.; Imtiaz F.; Kjaergaard S.; Martinsson T.; Schwartz M.; Seta N.; Vuillaumier-Barrot S.; Westphal V.; Winchester B.;
Hum. Mutat. 16:386-394(2000)
Cited for: VARIANTS CDG1A TYR-9; CYS-11; ARG-32; ALA-44; TYR-65; MET-67; SER-69; CYS-76; LYS-101; PHE-103; CYS-106; VAL-108; LEU-113; ARG-117; LEU-119; THR-120; GLN-123; MET-129; ALA-131; ASN-132; THR-132; LYS-139; HIS-141; ASN-148; GLY-151; THR-153; SER-157; TRP-162; VAL-172; ARG-175; SER-183; GLY-185; GLY-188; GLY-192; ARG-195; SER-206; ALA-208; ILE-216; SER-216; GLU-217; LEU-218; GLU-223; SER-226; ARG-228; CYS-228; SER-229; MET-231; THR-233; ARG-237; MET-237; GLY-238 AND SER-241; VARIANT ALA-197; 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.