Sequence information
Variant position: 171 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 249 The length of the canonical sequence.
Location on the sequence:
IADNVKDWSKVVLAYEPVWA
I GTGKTATPQQAQEVHEKLRG
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 IAD-NVKDWSKVVLAYEPVWAI GTGKTATPQQAQEVHEKLRG
Gorilla ITD-NVKDWSKVVLAYEPVWAI GTGKTATPQQAQEVHEKLR
IAD-NVKDWSKVVLAYEPVWAI GTGKTATPQQAQEVHEKLR
Rhesus macaque IAD-NVKDWSKVVLAYEPVWAI GTGKTATPQQAQEVHEKLR
Chimpanzee IAD-NVKDWSKVVLAYEPVWAI GTGKTATPQQAQEVHEKLR
Mouse IAD-NVKDWSKVVLAYEPVWAI GTGKTATPQQAQEVHEKLR
Rat IAD-NVKDWCKVVLAYEPVWAI GTGKTATPQQAQEVHEKLR
Pig IAD-NVKDWNKVVLAYEPVWAI GTGKTATPQQAQEVHEKLR
Bovine IAD-NVKDWSKVVLAYEPVWAI GTGKTATPQQAQEVHEKLR
Rabbit IAD-NVKDWSKVVLAYEPVWAI GTGKTATPQQAQEVHEKLR
Chicken IAD-NVKDWSKVVLAYEPVWAI GTGKTATPQQAQEVHEKLR
Xenopus laevis IAD-NVKDWSKVVLAYEPVWAI GTGKTATPEQAQEVHKKLR
Xenopus tropicalis IAD-NVKDWSKVVLAYEPVWAI GTGKTATPEQAQEVHKKLR
Caenorhabditis elegans IVD-KGVSWENIVIAYEPVWAI GTGKTASGEQAQEVHEWIR
Drosophila YAQ-KIKDWKNVVVAYEPVWAI GTGQTATPDQAQEVHAFLR
Slime mold FASFTPEEWSKIVIAYEPVWAI GTGAVATPQEAQDTHVFIR
Baker's yeast VLE-EVKDWTNVVVAYEPVWAI GTGLAATPEDAQDIHASIR
Fission yeast IAD-KVQNWSKIVIAYEPVWAI GTGKTATPEQAQEVHAEIR
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
Chain
2 – 249
Triosephosphate isomerase
Active site
166 – 166
Proton acceptor
Modified residue
156 – 156
N6-acetyllysine; alternate
Modified residue
156 – 156
N6-succinyllysine; alternate
Modified residue
159 – 159
Phosphoserine
Modified residue
173 – 173
Phosphothreonine
Turn
171 – 173
Literature citations
Evidence for founder effect of the Glu104Asp substitution and identification of new mutations in triosephosphate isomerase deficiency.
Arya R.; Lalloz M.R.A.; Bellingham A.J.; Layton D.M.;
Hum. Mutat. 10:290-294(1997)
Cited for: VARIANTS TPID TYR-42; ASP-105 AND VAL-171;
Disclaimer:
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.