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UniProtKB/Swiss-Prot P08237: Variant p.Arg100Gln

ATP-dependent 6-phosphofructokinase, muscle type
Gene: PFKM
Variant information

Variant position:  100
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LB/B
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:  From Arginine (R) to Glutamine (Q) at position 100 (R100Q, p.Arg100Gln).
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:  Change from large size and basic (R) to medium size and polar (Q)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  1
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

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  100
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  780
The length of the canonical sequence.

Location on the sequence:   GGTVIGSARCKDFREREGRL  R AAYNLVKRGITNLCVIGGDG
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: 
The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         GGTVIGSARCKDFREREGRLRAAYNLVKRGITNLCVIGGDG

                              GGTVIGSARCKDFREREGRLRAAHNLVKRGITNLCVIGGDG

Mouse                         GGTVIGSARCKDFREREGRLRAAHNLVKRGITNLCVIGGDG

Rat                           GGTVIGSARCKDFREREGRLRAAHNLVKRGITNLCVIGGDG

Pig                           GGTVIGSARCKDFREREGRLRAAHNLVKRGITNLCVIGGDG

Bovine                        GGTVIGSARCKDFREREGRLRAAHNLVKRGITNLCVIGGDG

Rabbit                        GGTVIGSARCKDFREREGRLRAAHNLVKRGITNLCVIGGDG

Horse                         GGTVIGSARCKDFREREGRLRAAHNLVKLGITNLCVIGGDG

Sequence annotation in neighborhood:  
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 – 780 ATP-dependent 6-phosphofructokinase, muscle type
Region 2 – 390 N-terminal catalytic PFK domain 1
Metal binding 119 – 119 Magnesium; catalytic


Literature citations

Functional expression of human mutant phosphofructokinase in yeast: genetic defects in French Canadian and Swiss patients with phosphofructokinase deficiency.
Raben N.; Exelbert R.; Spiegel R.; Sherman J.B.; Plotz P.; Heinisch J.J.;
Am. J. Hum. Genet. 56:131-141(1995)
Cited for: VARIANT GSD7 ASP-209; VARIANTS GLN-100 AND HIS-696; CHARACTERIZATION OF VARIANT GSD7 ASP-209;

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.