Variant position: 501 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 558 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 HGGTIPIVPTAEFQDRISGA SEKDIVHSGLAYTMERSARQI
Mouse HGGTIPVVPTAEFQDRISGA SEKDIVHSGLAYTMERSARQI
Rat HGGTIPVVPTAEFQDRISGA SEKDIVHSGLAYTMERSARQI
Pig HGGTIPIVPTAEFQDRISGA SEKDIVHSGLAYTMERSARQI
Bovine HGGTIPIVPTAEFQDRISGA SEKDIVHSGLAYTMERSARQI
Drosophila VGGRIPVTPSESFQKRISGA SEKDIVHSGLDYTMERSARAI
Slime mold AERSL----------IIHGA DEIDIVRSGLEDTMQNACAET
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
54 – 558 Glutamate dehydrogenase 1, mitochondrial
516 – 516 ADP
503 – 503 N6-acetyllysine; alternate
503 – 503 N6-malonyllysine; alternate
503 – 503 N6-succinyllysine; alternate
512 – 512 Phosphotyrosine
501 – 501 S -> A. Reduces activity and inhibition by GTP.
516 – 516 R -> A. Abolishes activation by ADP.
Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene.
Stanley C.A.; Lieu Y.K.; Hsu B.Y.L.; Burlina A.B.; Greenberg C.R.; Hopwood N.J.; Perlman K.; Rich B.H.; Zammarchi E.; Poncz M.;
N. Engl. J. Med. 338:1352-1357(1998)
Cited for: VARIANTS HHF6 LEU-498; SER-499; ASP-499; PRO-501 AND TYR-507; CHARACTERIZATION OF VARIANT TYR-507; FUNCTION; ACTIVITY REGULATION;
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.