Variant position: 169 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 477 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 FAQRRLGPE-VASLAMDSLCR GVFAGNSRELSIRSC-FPSLFQ
Mouse FAQRRLGPE-VASLAMDSLCR GVFAGNSRELSIRSC-FPSL
Bovine FAQRRLGPE-VASLAMDSLCR GVFAGNSRELSIRSC-FPSL
Slime mold FFSRRLGKT-MTKTFIEPTIL GIYGGDYTNLSIKST-FKRA
Baker's yeast ICDRRFGNNYISNNMISALLR GIYGDDVSLLSAKRT-FKKI
Fission yeast FMRRRFGKN-VTDRVMSAMIN GIYAGDLNDLSMHSSMFGFL
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 – 477 Protoporphyrinogen oxidase
166 – 166 L -> N. Decreases enzyme activity by 95%.
169 – 169 G -> A. Decreases enzyme activity by 64%.
163 – 171
Molecular characterization of homozygous variegate porphyria.
Roberts A.G.; Puy H.; Dailey T.A.; Morgan R.R.; Whatley S.D.; Dailey H.A.; Martasek P.; Nordmann Y.; Deybach J.C.; Elder G.H.;
Hum. Mol. Genet. 7:1921-1925(1998)
Cited for: VARIANTS VP GLU-169; ALA-349; ARG-358 AND PRO-433; CHARACTERIZATION OF VARIANTS VP GLU-169; ALA-349; ARG-358 AND PRO-433;
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.