UniProtKB/Swiss-Prot P00156: Variant p.Ala87Pro

Cytochrome b
Gene: MT-CYB
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Variant information Variant position:

87 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 Alanine (A) to Proline (P) at position 87 (A87P, p.Ala87Pro). 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 small size and hydrophobic (A) to medium size and hydrophobic (P) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-1 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 rs1603225017 [ dbSNP | Ensembl ]

Sequence information Variant position:

87 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

380 The length of the canonical sequence.
Location on the sequence:

AHITRDVNYGWIIRYLHANG A SMFFICLFLHIGRGLYYGSF 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                         AHITRDVNYGWIIRYLHANGASMFFICLFLHIGRGLYYGSF

Gorilla                       AHITRDVNYGWTIRYLHANGASMFFICLFLHIGRGLYYGSF

                              THICRDVNYGWIIRYMHANGASMFFICLFLHVGRGLYYGSY

Rhesus macaque                AHITRDVKYGWITRYLHANGASMLFICLFLHIGRGLYYGSY

Chimpanzee                    AHITRDVNYGWIIRYLHANGASMFFICLFLHIGRGLYYGSF

Mouse                         THICRDVNYGWLIRYMHANGASMFFICLFLHVGRGLYYGSY

Rat                           THICRDVNYGWLIRYLHANGASMFFICLFLHVGRGLYYGSY

Pig                           THICRDVNYGWVIRYLHANGASMFFICLFIHVGRGLYYGSY

Bovine                        THICRDVNYGWIIRYMHANGASMFFICLYMHVGRGLYYGSY

Rabbit                        THICRDVNYGWLIRYLHANGASMFFICLYMHVGRGIYYGSY

Goat                          THICRDVNYGWIIRYMHANGASMFFICLFMHIGRGLYYGSY

Sheep                         THICRDVNYGWIIRYMHANGASMFFICLFMHVGRGLYYGSY

Cat                           THICRDVNYGWIIRYLHANGASMFFICLYMHVGRGMYYGSY

Horse                         THICRDVNYGWIIRYLHANGASMFFICLFIHVGRGLYYGSY

Chicken                       AHTCRNVQYGWLIRNLHANGASFFFICIFLHIGRGLYYGSY

Xenopus laevis                AHICRDVNYGWLIRNLHANGASFFFICIYLHIGRGLYYGSF

Zebrafish                     VHICRDVNFGWLIRSIHANGASFFFICLYIHIARGLYYGSY

Caenorhabditis elegans        QYIMYEVNFGWVFRIFHFNGASLFFIFLYLHIFKGLFFMSY

Drosophila                    NHICRDVNYGWLLRTLHANGASFFFICIYLHVGRGIYYGSY

Slime mold                    ERLVREVDYGWLLRYIHANGASFFFIVVYIHMLRGLYFGSY

Baker's yeast                 EHIMRDVHNGYILRYLHANGASFFFMVMFMHMAKGLYYGSY

Fission yeast                 ERIVRDVNYGFLLRAFHANGASFFFIFLYLHIGRGLYYGSY

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 – 380	Cytochrome b
Transmembrane	77 – 98	Helical
Binding site	83 – 83	axial binding residue
Binding site	97 – 97	axial binding residue
Helix	76 – 103

Literature citations
Normal variants of human mitochondrial DNA and translation products: the building of a reference data base.
Marzuki S.; Noer A.S.; Lertrit P.; Thyagarajan D.; Kapsa R.; Utthanaphol P.; Byrne E.;
Hum. Genet. 88:139-145(1991)
Cited for: VARIANTS ILE-7 AND PRO-87;

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.