Variant position: 696 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:
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 ATKMGAKAMNWMSGKIKESY RNGRIFANTPDSGCVLGMRKR
Mouse ATKMGAKAMNWMSGKIKESY RNGRIFANTPDSGCVLGMRKR
Rat ATKMGAKATNWMSGKIKESY RNGRIFANTPDSGCVLGMRKR
Pig ATKMGAKAMNWMSGKIKESY RNGRIFANTPDSGCVLGMRKR
Bovine ATKMGAKAMNWMSGKIKESY RNGRIFANSPDSGCVLGMRKR
Rabbit ATKMGAKAMNWMAGKIKESY RNGRIFANTPDSGCVLGMRKR
Horse ATKMGAKAMNWMSGKIKESY RNGRIFANTPDSGCVLGMRKR
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.
Type Positions Description
2 – 780 ATP-dependent 6-phosphofructokinase, muscle type
402 – 780 C-terminal regulatory PFK domain 2
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;
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