Variant position: 234 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:
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 EPIPISKAHEHIFGMVLMND WSARDIQKWEYVPLGPFLGKS
Mouse EPIPISKAHEHIFGMVLMND WSARDIQQWEYVPLGPFLGKS
Rat EPIPISKAQEHIFGMVLMND WSARDIQQWEYVPLGPFLGKS
Bovine EPIPISKAHEHIFGMVLMND WSARDIQKWEYVPLGPFLGKS
Slime mold EPISIESAKDHIFGLVLLND WSARDIQKWEYVPLGPFLAKN
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.
Heterozygosity for an exon 12 splicing mutation and a W234G missense mutation in an American child with chronic tyrosinemia type 1.
Hahn S.H.; Krasnewich D.; Brantly M.; Kvittingen E.A.; Gahl W.A.;
Hum. Mutat. 6:66-73(1995)
Cited for: VARIANT TYRSN1 GLY-234;
Structural and functional analysis of missense mutations in fumarylacetoacetate hydrolase, the gene deficient in hereditary tyrosinemia type 1.
Bergeron A.; D'Astous M.; Timm D.E.; Tanguay R.M.;
J. Biol. Chem. 276:15225-15231(2001)
Cited for: CHARACTERIZATION OF VARIANTS TYRSN1 ILE-16; CYS-62; ASP-134; ARG-193; VAL-233; GLY-234 AND ARG-279; CHARACTERIZATION OF VARIANT TRP-341;
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.