Variant position: 490 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 533 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 TQTSDPAMLPTMIGLLAEAG VRLLSYQTSLVSDGETWHVMG
Chimpanzee TQTSDPAMPPTMMGLLAEAG VRLLSYQTSLVSDGETWHVMG
Mouse AQPSDPGMLPTMIGLLAEAG VQLLSYQTSMVSDGEPWHVMG
Rat AQPSDPVMLPTMIGLLAEAG VQLLSYQTSKVSDGDTWHVMG
Pig AQPSNPTMLPTMIGLLAEAR VQLLSYQTSVVSDGETWHVMA
Bovine AQASNPAMLPTMIGLLAEAG VQLLSYQSSVVSDGETWHVMS
Slime mold -------------------- ---IGYIIADVDSEAS---KE
Baker's yeast -------------------- ---IAYLMADISSVDQSDIKD
Fission yeast -------------------- ---IAYLVADISDCTPGSLEA
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 – 533 D-3-phosphoglycerate dehydrogenase
Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency -- a neurometabolic disorder associated with reduced L-serine biosynthesis.
Klomp L.W.J.; de Koning T.J.; Malingre H.E.M.; van Beurden E.A.C.M.; Brink M.; Opdam F.L.; Duran M.; Jaeken J.; Pineda M.; van Maldergem L.; Poll-The B.T.; van den Berg I.E.T.; Berger R.;
Am. J. Hum. Genet. 67:1389-1399(2000)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANTS PHGDHD MET-425 AND MET-490;
V490M, a common mutation in 3-phosphoglycerate dehydrogenase deficiency, causes enzyme deficiency by decreasing the yield of mature enzyme.
Pind S.; Slominski E.; Mauthe J.; Pearlman K.; Swoboda K.J.; Wilkins J.A.; Sauder P.; Natowicz M.R.;
J. Biol. Chem. 277:7136-7143(2002)
Cited for: CATALYTIC ACTIVITY; VARIANT MET-490;
Novel mutations in 3-phosphoglycerate dehydrogenase (PHGDH) are distributed throughout the protein and result in altered enzyme kinetics.
Tabatabaie L.; de Koning T.J.; Geboers A.J.J.M.; van den Berg I.E.T.; Berger R.; Klomp L.W.J.;
Hum. Mutat. 30:749-756(2009)
Cited for: VARIANTS PHGDHD TRP-135; MET-261; THR-373 AND SER-377; CHARACTERIZATION OF VARIANTS PHGDHD TRP-135; MET-261; THR-373; SER-377; MET-425 AND MET-490; BIOPHYSICOCHEMICAL PROPERTIES;
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.