Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O15305: Variant p.Val44Ala

Phosphomannomutase 2
Gene: PMM2
Feedback?
Variant information Variant position: help 44
Type of variant: help LP/P [Disclaimer]
Residue change: help From Valine (V) to Alanine (A) at position 44 (V44A, p.Val44Ala).
Physico-chemical properties: help Change from medium size and hydrophobic (V) to small size and hydrophobic (A)
BLOSUM score: help 0
Variant description: help In CDG1A.
Other resources: help


Sequence information Variant position: help 44
Protein sequence length: help 246
Location on the sequence: help ITKEMDDFLQKLRQKIKIGV V GGSDFEKVQEQLGNDVVEKY
Residue conservation: help 
Human                         ITKEMDDFLQKLRQKIKIGVVGGSDFEKVQEQLGNDVVEKY

Mouse                         ITEEMDGFLQKLRQKTKIGVVGGSDFEKLQEQLGNDVVEKY

Bovine                        ITKDMDCFLQKLRQKIKIGVVGGSDFEKVQEQLGDDVIKKY

Slime mold                    ITNEMKELLASLRTKIKIGVVGGSNFNKIKEQLGENFINDF
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 2 – 246 Phosphomannomutase 2
Beta strand 39 – 44



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; Characterization of two unusual truncating PMM2 mutations in two CDG-Ia patients.
Schollen E.; Keldermans L.; Foulquier F.; Briones P.; Chabas A.; Sanchez-Valverde F.; Adamowicz M.; Pronicka E.; Wevers R.; Matthijs G.;
Mol. Genet. Metab. 90:408-413(2007)
Cited for: VARIANTS CDG1A ALA-44 AND MET-231;
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.