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:
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 GGTVIGSARCKDFREREGRL RAAYNLVKRGITNLCVIGGDG
Mouse GGTVIGSARCKDFREREGRL RAAHNLVKRGITNLCVIGGDG
Rat GGTVIGSARCKDFREREGRL RAAHNLVKRGITNLCVIGGDG
Pig GGTVIGSARCKDFREREGRL RAAHNLVKRGITNLCVIGGDG
Bovine GGTVIGSARCKDFREREGRL RAAHNLVKRGITNLCVIGGDG
Rabbit GGTVIGSARCKDFREREGRL RAAHNLVKRGITNLCVIGGDG
Horse GGTVIGSARCKDFREREGRL RAAHNLVKLGITNLCVIGGDG
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
2 – 390 N-terminal catalytic PFK domain 1
119 – 119 Magnesium; catalytic
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;
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.