Variant position: 359 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 791 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 AVLVHIDNLRWEGVPFILMS GKALDERVGYARILFKNQACC
Mouse GVLVHIDNLRWEGVPFILMS GKALDERVGYVRIVFKNRAYC
Rabbit GVLVHVDNLRWEGVPFILMS GKALDERVGYVRVLFKNQAFC
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
20 – 791 GDH/6PGL endoplasmic bifunctional protein
20 – 526 Hexose-6-phosphate dehydrogenase
360 – 360 Substrate
365 – 365 Substrate
Steroid biomarkers and genetic studies reveal inactivating mutations in hexose-6-phosphate dehydrogenase in patients with cortisone reductase deficiency.
Lavery G.G.; Walker E.A.; Tiganescu A.; Ride J.P.; Shackleton C.H.; Tomlinson J.W.; Connell J.M.; Ray D.W.; Biason-Lauber A.; Malunowicz E.M.; Arlt W.; Stewart P.M.;
J. Clin. Endocrinol. Metab. 93:3827-3832(2008)
Cited for: VARIANTS CORTRD1 316-TYR--GLY-791 DEL AND ASP-359; CHARACTERIZATION OF VARIANTS CORTRD1 316-TYR--GLY-791 DEL; ASP-359 AND GLN-453; FUNCTION; CATALYTIC ACTIVITY; PATHWAY; SUBCELLULAR LOCATION;
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.