Sequence information
Variant position: 158 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 419 The length of the canonical sequence.
Location on the sequence:
GIMFRDKENALMPNWLHLPV
G YHGRASSVVVSGTPIRRPMG
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 GIMFRDKENALMPNWLHLPVG YHGRASSVVVSGTPIRRPMG
Mouse GIMFRGKENALLPNWLHLPVG YHGRASSIVVSGTPIRRPMG
Rat GIMFRGKENALLPNWLHLPVG YHGRASSVVVSGTPIRRPMG
Bovine GVMFRGKENALMPNWLHLPVG YHGRASSVVVSGTPIRRPLG
Caenorhabditis elegans GIMFRGKENALMPNWKWLPVG YHGRASSIVVSGTDLKRPVG
Slime mold GIMFRGKENALMPNWVHLPVG YHGRSSSIVVSGTPLKRPWG
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 – 419
Fumarylacetoacetase
Binding site
142 – 142
Literature citations
Spectrum of mutations in the fumarylacetoacetate hydrolase gene of tyrosinemia type 1 patients in northwestern Europe and Mediterranean countries.
Bergman A.J.I.W.; van den Berg I.E.T.; Brink W.; Poll-The B.T.; Ploos van Amstel J.K.; Berger R.;
Hum. Mutat. 12:19-26(1998)
Cited for: VARIANTS TYRSN1 ASP-158; LEU-261; SER-366 DEL AND HIS-405;
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.