Variant position: 168 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 367 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 RVPLIGFAGAPWTLMTYMVE GGGSSTMAQAKRWLYQRPQAS
Mouse RVPLIGFAGAPWTLMTYMVE GGSSSTMAQAKRWLYQRPQAS
Sheep RVPLIGFAGAPWTLMTYMVE GGGSSTMSQAKRWLYQRPQAS
Zebrafish KVPLIGFTGAPWTLMSYMIE GGGSATHSKAKRWLYRYPEAS
Drosophila RVPLIGFTGAPWTLMGYMIE GGGSKTMSKAKAWLNEHPEDS
Slime mold RVPLIGFTGAPWTLMTYCIE GSGGTTMSNSKSWLYKHPAES
Baker's yeast EVPLFGFCGGPWTLMVYMTE GGGSRLFRFAKQWINMYPELS
Fission yeast QVPLMGFSGAPWTIMAYMIE GGGSKTFAKAKSWLFRYPEAS
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
1 – 367 Uroporphyrinogen decarboxylase
164 – 164 Substrate
164 – 164 Y -> F. 25-30% of wild-type activity.
Two novel uroporphyrinogen decarboxylase (URO-D) mutations causing hepatoerythropoietic porphyria (HEP).
Phillips J.D.; Whitby F.G.; Stadtmueller B.M.; Edwards C.Q.; Hill C.P.; Kushner J.P.;
Transl. Res. 149:85-91(2007)
Cited for: VARIANT HEP ARG-168; CHARACTERIZATION OF VARIANT HEP ARG-168;
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