Variant position: 170 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 PLIGFAGAPWTLMTYMVEGG GSSTMAQAKRWLYQRPQASHQ
Mouse PLIGFAGAPWTLMTYMVEGG SSSTMAQAKRWLYQRPQASHK
Sheep PLIGFAGAPWTLMTYMVEGG GSSTMSQAKRWLYQRPQASHQ
Zebrafish PLIGFTGAPWTLMSYMIEGG GSATHSKAKRWLYRYPEASHK
Drosophila PLIGFTGAPWTLMGYMIEGG GSKTMSKAKAWLNEHPEDSKL
Slime mold PLIGFTGAPWTLMTYCIEGS GGTTMSNSKSWLYKHPAESHK
Baker's yeast PLFGFCGGPWTLMVYMTEGG GSRLFRFAKQWINMYPELSHK
Fission yeast PLMGFSGAPWTIMAYMIEGG GSKTFAKAKSWLFRYPEASHK
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.
Hepatoerythropoietic porphyria due to a novel mutation in the uroporphyrinogen decarboxylase gene.
To-Figueras J.; Phillips J.; Gonzalez-Lopez J.M.; Badenas C.; Madrigal I.; Gonzalez-Romaris E.M.; Ramos C.; Aguirre J.M.; Herrero C.;
Br. J. Dermatol. 165:499-505(2011)
Cited for: VARIANT HEP ASP-170; CHARACTERIZATION OF VARIANT HEP ASP-170;
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.