Variant position: 269 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 286 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 SVTGATCKELASQPDVDGFL VGGASL-KPEFVDIINA---KQ-
Gorilla SVTGATCKELASQPDVDGFL VGGASL-KPEFVDIINA-
Rhesus macaque SVTGATCKELASQPDVDGFL VGGASL-KPEFVDIINA-
Chimpanzee SVTGATCKELASQPDVDGFL VGGASL-KPEFVDIINA-
Mouse SVTGATCKELASQPDVDGFL VGGASL-KPEFVDIINA-
Rat SVTGATCKELASQPDVDGFL VGGASL-KPEFVDIINA-
Pig SVTGATCKELASQPDVDGFR VSGASL-KPEFVDIINA-
Bovine SVTGATCKELASQPDVDGFL VGGASL-KPEFVDIINA-
Rabbit SVTGATCKELASQPDVDGFL VGGASL-KPEFVDIINA-
Chicken SVTGGNCKELASQHDVDGFL VGGASL-KPEFVDIINA-
Xenopus laevis SVTGGTCRELAGQPDIDGFL VGGASL-KPEFIEIINA-
Xenopus tropicalis SVTGGTCKELGAQPDIDGFL VGGASL-KPEFIDIINA-
Caenorhabditis elegans SVTADNAAELGKKPDIDGFL VGGASL-KPDFVKIINA-
Drosophila SVTAANAKELAKKPDIDGFL VGGASL-KPEFVDIINA-
Slime mold SVNADNCHNLSKQSDIDGFL VGGASLVASDFIAIIKSA
Baker's yeast SANGSNAVTFKDKADVDGFL VGGASL-KPEFVDIINS-
Fission yeast SVNGGNCKEFLKFHDIDGFL VGGASL-KPEFHNIVNV-
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.
Relation between genetic defect, altered protein structure, and enzyme function in triose-phosphate isomerase (TPI) deficiency.
Neubauer B.A.; Pekrun A.; Eber S.W.; Lakomek M.; Schroeter W.;
Cited for: VARIANTS TPID ASP-142 AND MET-269;
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.