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:
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 YDTRVTVLGHVQRGGTPSAF DRILGSRMGVEAVMALLEGTP
Mouse YDTRVTVLGHVQRGGTPSAF DRILGSRMGVEAVMALLEGTP
Rat YDTRVTVLGHVQRGGTPSAF DRILGSRMGVEAVMALLEGTP
Pig YDTRVTVLGHVQRGGTPSAF DRILGSRMGVEAVMALLEGTP
Bovine YDTRVTVLGHVQRGGTPSAF DRILGSRMGVEAVMALLEGTP
Rabbit YDTRVTVLGHVQRGGTPSAF DRILGSRMGVEAVMALLEGTP
Horse YDTRVTVLGHVQRGGTPSAF DRILGSRMGVEAVMALLEATP
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
292 – 292 Substrate; shared with dimeric partner
282 – 312 Missing. In isoform 2.
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;
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