Variant position: 179 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 370 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 GVEF-DFIPDVK----GAVLVCDMS SNFLSKPVDVSKFGVIFAGAQ
Mouse GVEF-DFVPDVK----GAVLVCDMS SNFLSRPVDVSKFGVI
Rabbit GVEF-DFVPDVK----GAILVCDMS SNFLSRPVDVSKFGVI
Caenorhabditis elegans GIEFTPTAPESH----NVPLVADVS SNFMARPFDFKDHGVV
Drosophila GVEF-DFVPEVPA---GVPLVADMS SNFLSRPFDVSKFGVI
Slime mold GIEM-PISTPDHLPS-NLIKVCDMS SNFLSKPIDVNKFDLI
Baker's yeast GVEW-PELPKCLVNDPNIEIVADLS SDILSRKIDVSQYGVI
Fission yeast GVEF--NEPPTNIPK-GAIRVCDVS SNFISRKIDFTKHDII
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 – 370 Phosphoserine aminotransferase
176 – 176 Pyridoxal phosphate
199 – 199 Pyridoxal phosphate
178 – 182
Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway.
Acuna-Hidalgo R.; Schanze D.; Kariminejad A.; Nordgren A.; Kariminejad M.H.; Conner P.; Grigelioniene G.; Nilsson D.; Nordenskjold M.; Wedell A.; Freyer C.; Wredenberg A.; Wieczorek D.; Gillessen-Kaesbach G.; Kayserili H.; Elcioglu N.; Ghaderi-Sohi S.; Goodarzi P.; Setayesh H.; van de Vorst M.; Steehouwer M.; Pfundt R.; Krabichler B.; Curry C.; MacKenzie M.G.; Boycott K.M.; Gilissen C.; Janecke A.R.; Hoischen A.; Zenker M.;
Am. J. Hum. Genet. 95:285-293(2014)
Cited for: INVOLVEMENT IN NLS2; VARIANTS NLS2 VAL-99 AND LEU-179;
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.