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UniProtKB/Swiss-Prot P08237: Variant p.Asp543Ala

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

Variant position:  543
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 Alanine (A) at position 543 (D543A, p.Asp543Ala).
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 small size and hydrophobic (A)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -2
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; Italian.
Any additional useful information about the variant.

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



Sequence information

Variant position:  543
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:   VVIPATVSNNVPGSDFSVGA  D TALNTICTTCDRIKQSAAGT
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                         VVIPATVSNNVPGSDFSVGADTALNTICTTCDRIKQSAAGT

                              VVIPATVSNNVPGSDFSVGADTALNTICTTCDRIKQSAAGT

Mouse                         VVIPATVSNNVPGSDFSIGADTALNTICTTCDRIKQSAAGT

Rat                           VVIPATVSNNVPGSDFSIGADTALNTICTTCDRIKQSAAGT

Pig                           VVIPATVSNNVPGSDFSVGADTALNTICMTCDRIKQSAAGT

Bovine                        VVIPATVSNNVPGSDFSVGADTALNTICMTCDRIKQSAAGT

Rabbit                        VVIPATVSNNVPGSDFSVGADTALNTICTTCDRIKQSAAGT

Horse                         VVIPATVSNNVPGSDFSVGADTALNTICMTCDRIKQSAAGT

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 402 – 780 C-terminal regulatory PFK domain 2
Modified residue 557 – 557 N6-(2-hydroxyisobutyryl)lysine
Glycosylation 530 – 530 O-linked (GlcNAc) serine


Literature citations

Identification of three novel mutations in non-Ashkenazi Italian patients with muscle phosphofructokinase deficiency.
Tsujino S.; Servidei S.; Tonin P.; Shanske S.; Azan G.; DiMauro S.;
Am. J. Hum. Genet. 54:812-819(1994)
Cited for: VARIANTS GSD7 PRO-39 AND ALA-543;

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.