Variant position: 309 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 622 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 GKTNLAMMNPSLPGWKVECV GDDIAWMKFDAQGHLRAINPE
Mouse GKTNLAMMNPSLPGWKVECV GDDIAWMKFDAQGNLRAINPE
Rat GKTNLAMMNPTLPGWKVECV GDDIAWMKFDAQGNLRAINPE
Bovine GKTNLAMMNPTLPGWKVECV GDDIAWMKFDQQGNLRAINPE
Chicken GKTNLAMMNPSRPGWKIECV GDDIAWMKFDELGNLRAINPE
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
1 – 622 Phosphoenolpyruvate carboxykinase, cytosolic [GTP]
311 – 311 Manganese
4 – 320 Missing. In isoform 2.
304 – 311
Novel homozygous PCK1 mutation causing cytosolic phosphoenolpyruvate carboxykinase deficiency presenting as childhood hypoglycemia, an abnormal pattern of urine metabolites and liver dysfunction.
Vieira P.; Cameron J.; Rahikkala E.; Keski-Filppula R.; Zhang L.H.; Santra S.; Matthews A.; Myllynen P.; Nuutinen M.; Moilanen J.S.; Rodenburg R.J.; Rolfs A.; Uusimaa J.; van Karnebeek C.D.;
Mol. Genet. Metab. 120:337-341(2017)
Cited for: VARIANT PCKDC ARG-309; CHARACTERIZATION OF VARIANT PCKDC ARG-309; FUNCTION; CATALYTIC ACTIVITY; PATHWAY;
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.