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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P50336: Variant p.Ile12Thr

Protoporphyrinogen oxidase
Gene: PPOX
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Variant information Variant position: help 12
Type of variant: help LP/P [Disclaimer]
Residue change: help From Isoleucine (I) to Threonine (T) at position 12 (I12T, p.Ile12Thr).
Physico-chemical properties: help Change from medium size and hydrophobic (I) to medium size and polar (T)
BLOSUM score: help -1
Variant description: help In VP and VPCO; strongly decreases enzyme activity; impairs protein folding and/or stability.
Other resources: help


Sequence information Variant position: help 12
Protein sequence length: help 477
Location on the sequence: help MGRTVVVLGGG I SGLAASYHLSRAPCPPKVVL
Residue conservation: help 
Human                         MGRTVVVLGGGISGLAASYHLSRA--------PCPPKVVL

Mouse                         MGRTVIVLGGGISGLAASYHLIRG--------

Bovine                        MGRTVVVLGGGISGLAASYYLSRA--------

Slime mold                    MIQKVGIIGSGISGLSSYYYLRNGINLTSKFS

Baker's yeast                 PRAKVAVVGGGVSGLCFTYFLSKL--------

Fission yeast                 --MSIAICGGGIAGLSTAFYLARL--------
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 477 Protoporphyrinogen oxidase
Binding site 9 – 14
Helix 12 – 22



Literature citations
Structural insight into human variegate porphyria disease.
Qin X.; Tan Y.; Wang L.; Wang Z.; Wang B.; Wen X.; Yang G.; Xi Z.; Shen Y.;
FASEB J. 25:653-664(2011)
Cited for: X-RAY CRYSTALLOGRAPHY (1.90 ANGSTROMS) IN COMPLEX WITH FAD AND ACIFLUORFEN; CATALYTIC ACTIVITY; FUNCTION; SUBUNIT; CHARACTERIZATION OF VARIANTS VP ASP-11; THR-12; PHE-15; PRO-20; PRO-38; ALA-40; GLU-40; TRP-59; PRO-73; GLY-84; PRO-85; PRO-106; PRO-138; ASP-139; VAL-143; CYS-152; PRO-154; MET-158; HIS-168; VAL-178; VAL-205; CYS-217; GLY-224; ARG-232; ASP-282; ASN-283; PRO-295; ARG-330; ALA-332; GLY-335; CYS-348; ALA-349; PRO-350; ARG-358; ASP-397; PHE-401; PRO-433; PRO-444; ARG-448; PRO-450 AND ARG-453; MUTAGENESIS OF LEU-74; ARG-97; LEU-166; GLY-169; SER-284; VAL-290; PHE-331; LEU-334; VAL-347 AND MET-368; Homozygous variegate porphyria: 20 y follow-up and characterization of molecular defect.
Kauppinen R.; Timonen K.; von und zu Fraunberg M.; Laitinen E.; Ahola H.; Tenhunen R.; Taketani S.; Mustajoki P.;
J. Invest. Dermatol. 116:610-613(2001)
Cited for: VARIANTS VPCO THR-12 AND ARG-256; CHARACTERIZATION OF VARIANTS VPCO THR-12 AND ARG-256;
Disclaimer: 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.