Variant position: 193 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 IRRPMGQMKPDDSKP-PVYGA CKLLDMELEMAFFVG-PGNRLG
Mouse IRRPMGQMRPDNSKP-PVYGA CRLLDMELEMAFFVG-PGNR
Rat IRRPMGQMRPDNSKP-PVYGA SKRLDMELEMAFFVG-PGNR
Bovine IRRPLGQMRPDDSKP-PVYGA CKLLDFELEMAFFVG-PGNK
Slime mold LKRPWGQTKSDEPDSLPTFNP CRLLDFELEMGALIGGESTK
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.
Hereditary tyrosinemia type 1: novel missense, nonsense and splice consensus mutations in the human fumarylacetoacetate hydrolase gene; variability of the genotype-phenotype relationship.
Ploos van Amstel J.K.; Bergman A.J.I.W.; van Beurden E.A.C.M.; Roijers J.F.M.; Peelen T.; van den Berg I.E.T.; Poll-The B.T.; Kvittingen E.A.; Berger R.;
Hum. Genet. 97:51-59(1996)
Cited for: VARIANTS TYRSN1 ARG-193 AND VAL-369;
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.