UniProtKB/SwissProt variant VAR

Variant information

Variant position:

327

The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:

LP/P [Disclaimer]

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 Histidine (H) to Arginine (R) at position 327 (H327R, p.His327Arg).

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 medium size and polar (H) to large size and basic (R)

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

Variant description:

In HARPO.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs587777271 [ dbSNP | Ensembl ]

Sequence information

Variant position:

327

The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:

454

The length of the canonical sequence.

Location on the sequence:

HGPDLYPKFKKWCDDYFFIA H RGERRGIGGIFFDDLDSPSK

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                         HGP----DLYPKFKKWCDDYFFIAHRGERRGIGGIFFDDLDSPSK

Mouse                         HGP----DIYPKFKKWCDDYFFIVHRGERRGIGGIFFDDLD

Rat                           HGP----DIYPKFKKWCDDYFFIAHRGERRGIGGIFFDDLD

Drosophila                    HDP----TYYPRFKKWCDDYFRIKHRNESRGIGGIFFDDID

Slime mold                    YGQEENKTSYALGKAECDSYFFLPHRGETRGVGGLFFDHLK

Baker's yeast                 HDT----ALYPRFKKWCDEYFYITHRKETRGIGGIFFDDYD

Fission yeast                 HDP----TFYPRFKKWADEYFLIKHRKETRGIGGIFFDDLS

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	111 – 454	Oxygen-dependent coproporphyrinogen-III oxidase, mitochondrial
Site	327 – 327	Important for dimerization
Alternative sequence	288 – 454	Missing. In isoform 2.
Helix	326 – 328

Literature citations

Harderoporphyria due to homozygosity for coproporphyrinogen oxidase missense mutation H327R.
Hasanoglu A.; Balwani M.; Kasapkara C.S.; Ezgue F.S.; Okur I.; Tuemer L.; Cakmak A.; Nazarenko I.; Yu C.; Clavero S.; Bishop D.F.; Desnick R.J.;
J. Inherit. Metab. Dis. 34:225-231(2011)
Cited for: INVOLVEMENT IN HARPO; VARIANT HARPO ARG-327;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P36551: Variant p.His327Arg