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:
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 VVIPATVSNNVPGSDFSVGA DTALNTICTTCDRIKQSAAGT
Mouse VVIPATVSNNVPGSDFSIGA DTALNTICTTCDRIKQSAAGT
Rat VVIPATVSNNVPGSDFSIGA DTALNTICTTCDRIKQSAAGT
Pig VVIPATVSNNVPGSDFSVGA DTALNTICMTCDRIKQSAAGT
Bovine VVIPATVSNNVPGSDFSVGA DTALNTICMTCDRIKQSAAGT
Rabbit VVIPATVSNNVPGSDFSVGA DTALNTICTTCDRIKQSAAGT
Horse VVIPATVSNNVPGSDFSVGA DTALNTICMTCDRIKQSAAGT
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
557 – 557 N6-(2-hydroxyisobutyryl)lysine
530 – 530 O-linked (GlcNAc) serine
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;
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