Variant position: 100 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 CGQFSAVPLNLIGLKAGR-------CA DYVVTGAWSAKAAEEAKKFGT
Mouse SGQFSAVPLNLIGLKAGR-------SA DYVVTGAWSAKAAE
Rabbit CGQFSAVPLNLIGLKPGR-------CA DYVVTGAWSAKAAE
Caenorhabditis elegans TGQFAAIPLNLKGDHEH---------A DYIVTGAWSSKAAD
Drosophila TGQFAAVALNLIGKTGT---------A DYVITGSWSAKAAK
Slime mold SSLFAGIPMNLCENGVED-------IV DFIVTGSWSKQASN
Baker's yeast TTGFSSVATNLAAAYVGKHG--KIAPA GYLVTGSWSQKSFE
Fission yeast TEQFAACLYNVYAHHALKNGNAKSLVA NYIITGAWSKKAYA
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
107 – 107 Pyridoxal phosphate
98 – 101
Phosphoserine aminotransferase deficiency: a novel disorder of the serine biosynthesis pathway.
Hart C.E.; Race V.; Achouri Y.; Wiame E.; Sharrard M.; Olpin S.E.; Watkinson J.; Bonham J.R.; Jaeken J.; Matthijs G.; Van Schaftingen E.;
Am. J. Hum. Genet. 80:931-937(2007)
Cited for: BIOPHYSICOCHEMICAL PROPERTIES; INVOLVEMENT IN PSATD; VARIANT PSATD ALA-100; CHARACTERIZATION OF VARIANT PSATD ALA-100;
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.