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UniProtKB/Swiss-Prot P08237: Variant p.Asp309Gly

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

Variant position:  309
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  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:  From Aspartate (D) to Glycine (G) at position 309 (D309G, p.Asp309Gly).
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 medium size and acidic (D) to glycine (G)
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

Variant description:  In GSD7; Spanish; complete loss of enzyme activity.
Any additional useful information about the variant.

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



Sequence information

Variant position:  309
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:   YDTRVTVLGHVQRGGTPSAF  D RILGSRMGVEAVMALLEGTP
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                         YDTRVTVLGHVQRGGTPSAFDRILGSRMGVEAVMALLEGTP

                              YDTRVTVLGHVQRGGTPSAFDRILGSRMGVEAVMALLEGTP

Mouse                         YDTRVTVLGHVQRGGTPSAFDRILGSRMGVEAVMALLEGTP

Rat                           YDTRVTVLGHVQRGGTPSAFDRILGSRMGVEAVMALLEGTP

Pig                           YDTRVTVLGHVQRGGTPSAFDRILGSRMGVEAVMALLEGTP

Bovine                        YDTRVTVLGHVQRGGTPSAFDRILGSRMGVEAVMALLEGTP

Rabbit                        YDTRVTVLGHVQRGGTPSAFDRILGSRMGVEAVMALLEGTP

Horse                         YDTRVTVLGHVQRGGTPSAFDRILGSRMGVEAVMALLEATP

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
Binding site 292 – 292 Substrate; shared with dimeric partner
Alternative sequence 282 – 312 Missing. In isoform 2.


Literature citations

First description of phosphofructokinase deficiency in spain: identification of a novel homozygous missense mutation in the PFKM gene.
Vives-Corrons J.L.; Koralkova P.; Grau J.M.; Manu Pereira Mdel M.; Van Wijk R.;
Front. Physiol. 4:393-393(2013)
Cited for: VARIANT GSD7 GLY-309; CHARACTERIZATION OF VARIANT GSD7 GLY-309;

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.