Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O15305: Variant p.Gln177His

Phosphomannomutase 2
Gene: PMM2
Feedback?
Variant information Variant position: help 177 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change: help From Glutamine (Q) to Histidine (H) at position 177 (Q177H, p.Gln177His). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and polar. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Variant description: help In CDG1A; partial loss of activity. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 177 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 246 The length of the canonical sequence.
Location on the sequence: help FVADLRKEFAGKGLTFSIGG Q ISFDVFPDGWDKRYCLRHVE The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: help The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human                         FVADLRKEFAGKGLTFSIGGQISFDVFPDGWDKRYCLRHVE

Mouse                         FVADLRKEFAGKGLTFSIGGQISIDVFPEGWDKRYCLRHLE

Bovine                        FVEDLRKEFAGKGLTFSIGGQISFDVFPDGWDKRYCLGHVE

Slime mold                    MVSILKEEFKSFGLQYSIGGQISFDVFPIGWDKTYCLRHLP

Sequence annotation in neighborhood: help The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
  • Type: the type of sequence feature.
  • Positions: endpoints of the sequence feature.
  • Description: contains additional information about the feature.
TypePositionsDescription
Chain 2 – 246 Phosphomannomutase 2
Binding site 179 – 179
Binding site 181 – 181
Alternative sequence 120 – 246 Missing. In isoform 2.
Turn 176 – 178



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.