UniProtKB/Swiss-Prot P50336: Variant p.Arg304His

Protoporphyrinogen oxidase
Gene: PPOX
Feedback?

Variant information Variant position:

304 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B The variants are classified into three categories: LP/P, LB/B and US.

LP/P: likely pathogenic or pathogenic.
LB/B: likely benign or benign.
US: uncertain significance

Residue change:

From Arginine (R) to Histidine (H) at position 304 (R304H, p.Arg304His). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties:

Change from large size and basic (R) to medium size and polar (H) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

0 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:

Lowest score: -4 (low probability of substitution).
Highest score: 11 (high probability of substitution).

More information can be found on the following page
Other resources:

Links to websites of interest for the variant.

Variant rs36013429 [ dbSNP | Ensembl ]

Sequence information Variant position:

304 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:

SAIPASVLSELLPAEAAPLA R ALSAITAVSVAVVNLQYQGA 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                         SAIPASVLSELL--PAEAAPLARALSAITAVSVAVVNLQYQGA

Mouse                         SAIPASELSKLL--PAEAAPLARILSTIKAVSVAVVNLQYR

Bovine                        SAIPASVLSKLL--PAEATPLARALSTITAVSVAVVNLQYR

Slime mold                    STIPLNQLAPMF--KKSDSKLYQLLQSVNYTSIAVINLIYK

Baker's yeast                 LTITPPKIAKLL--PKDQNSLSKLLDEIQSNTIILVN-YYL

Fission yeast                 FANSSRNLENLISCPKMETPTS---------SVYVVNVYYK

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
Chain	1 – 477	Protoporphyrinogen oxidase
Mutagenesis	284 – 284	S -> I. Decreases enzyme activity by 87%. Impairs protein folding and/or stability.
Mutagenesis	290 – 290	V -> L. No effect on enzyme activity.
Helix	300 – 307

Literature citations
Protoporphyrinogen oxidase: complete genomic sequence and polymorphisms in the human gene.
Puy H.; Robreau A.-M.; Rosipal R.; Nordmann Y.; Deybach J.-C.;
Biochem. Biophys. Res. Commun. 226:226-230(1996)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT HIS-304; Mutations in the protoporphyrinogen oxidase gene in patients with variegate porphyria.
Deybach J.-C.; Puy H.; Robreau A.-M.; Lamoril J.; da Silva V.; Grandchamp B.; Nordmann Y.;
Hum. Mol. Genet. 5:407-410(1996)
Cited for: VARIANT VP ARG-232; VARIANT HIS-304; Variegate porphyria in Western Europe: identification of PPOX gene mutations in 104 families, extent of allelic heterogeneity, and absence of correlation between phenotype and type of mutation.
Whatley S.D.; Puy H.; Morgan R.R.; Robreau A.M.; Roberts A.G.; Nordmann Y.; Elder G.H.; Deybach J.C.;
Am. J. Hum. Genet. 65:984-994(1999)
Cited for: VARIANTS ARG-256 AND HIS-304; VARIANTS VP PRO-38; GLU-40; PRO-73; GLY-84; PRO-85; VAL-143; CYS-152; PRO-154; MET-158; HIS-168; VAL-172; ARG-232; HIS-281 DEL; ASP-282; PRO-295; GLY-335; PRO-350; PRO-444; ARG-453 AND VAL-453;

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.