Sequence information
Variant position: 146 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:
AQLQHAGLREAGRIFYFSVP
P FAYEDIARNINSSCRPGPGA
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 AQLQHAGLREAGRIFYFSVPP FAYEDIARNINSSCRPGPGA
Mouse TQVQQDGLWEAGRIFYFSVPP FAYADIARNINSSCRPHPGA
Rabbit AQVQQEGLREAGRMFYFSVPP FAYADIARNINSSCRPGPGA
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
Chain
20 – 791
GDH/6PGL endoplasmic bifunctional protein
Region
20 – 526
Hexose-6-phosphate dehydrogenase
Binding site
149 – 149
Glycosylation
157 – 157
N-linked (GlcNAc...) asparagine
Literature citations
Novel H6PDH mutations in two girls with premature adrenarche: 'apparent' and 'true' CRD can be differentiated by urinary steroid profiling.
Lavery G.G.; Idkowiak J.; Sherlock M.; Bujalska I.; Ride J.P.; Saqib K.; Hartmann M.F.; Hughes B.; Wudy S.A.; De Schepper J.; Arlt W.; Krone N.; Shackleton C.H.; Walker E.A.; Stewart P.M.;
Eur. J. Endocrinol. 168:K19-K26(2013)
Cited for: VARIANTS CORTRD1 LEU-146; 325-GLN--GLY-791 DEL AND 446-TYR--GLY-791 DEL; CHARACTERIZATION OF VARIANTS CORTRD1 LEU-146; 325-GLN--GLY-791 DEL AND 446-TYR--GLY-791 DEL; FUNCTION; CATALYTIC ACTIVITY; PATHWAY;
Disclaimer:
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.