Variant position: 168 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 SFAQRRLGPE-VASLAMDSLC RGVFAGNSRELSIRSC-FPSLF
Mouse SFAQRRLGPE-VASLAMDSLC RGVFAGNSRELSIRSC-FPS
Bovine SFAQRRLGPE-VASLAMDSLC RGVFAGNSRELSIRSC-FPS
Slime mold DFFSRRLGKT-MTKTFIEPTI LGIYGGDYTNLSIKST-FKR
Baker's yeast SICDRRFGNNYISNNMISALL RGIYGDDVSLLSAKRT-FKK
Fission yeast SFMRRRFGKN-VTDRVMSAMI NGIYAGDLNDLSMHSSMFGF
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
Identification of three mutations and associated haplotypes in the protoporphyrinogen oxidase gene in South African families with variegate porphyria.
Warnich L.; Kotze M.J.; Groenewald I.M.; Groenewald J.Z.; van Brakel M.G.; van Heerden C.J.; de Villiers J.N.; van de Ven W.J.; Schoenmakers E.F.; Taketani S.; Retief A.E.;
Hum. Mol. Genet. 5:981-984(1996)
Cited for: VARIANTS VP PRO-20; TRP-59 AND CYS-168;
A R59W mutation in human protoporphyrinogen oxidase results in decreased enzyme activity and is prevalent in South Africans with variegate porphyria.
Meissner P.N.; Dailey T.A.; Hift R.J.; Ziman M.; Corrigall A.V.; Roberts A.G.; Meissner D.M.; Kirsch R.E.; Dailey H.A.;
Nat. Genet. 13:95-97(1996)
Cited for: VARIANTS VP TRP-59 AND CYS-168;
Kinetic and physical characterisation of recombinant wild-type and mutant human protoporphyrinogen oxidases.
Maneli M.H.; Corrigall A.V.; Klump H.H.; Davids L.M.; Kirsch R.E.; Meissner P.N.;
Biochim. Biophys. Acta 1650:10-21(2003)
Cited for: CHARACTERIZATION OF VARIANTS VP PRO-20; TRP-59; CYS-168 AND CYS-348;
Mitochondrial targeting of human protoporphyrinogen oxidase.
Davids L.M.; Corrigall A.V.; Meissner P.N.;
Cell Biol. Int. 30:416-426(2006)
Cited for: CHARACTERIZATION OF VARIANTS VP PRO-20; TRP-59 AND CYS-168;
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.