UniProtKB/Swiss-Prot P00156: Variant p.Arg80His

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

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

US 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 80 (R80H, p.Arg80His). 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
Variant description:

In colorectal cancer. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs207459995 [ dbSNP | Ensembl ]

Sequence information Variant position:

80 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:

STAFSSIAHITRDVNYGWII R YLHANGASMFFICLFLHIGR 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                         STAFSSIAHITRDVNYGWIIRYLHANGASMFFICLFLHIGR

Gorilla                       STAFSSIAHITRDVNYGWTIRYLHANGASMFFICLFLHIGR

                              ATAFSSVTHICRDVNYGWIIRYMHANGASMFFICLFLHVGR

Rhesus macaque                SSAFSSIAHITRDVKYGWITRYLHANGASMLFICLFLHIGR

Chimpanzee                    STAFSSIAHITRDVNYGWIIRYLHANGASMFFICLFLHIGR

Mouse                         MTAFSSVTHICRDVNYGWLIRYMHANGASMFFICLFLHVGR

Rat                           MTAFSSVTHICRDVNYGWLIRYLHANGASMFFICLFLHVGR

Pig                           TTAFSSVTHICRDVNYGWVIRYLHANGASMFFICLFIHVGR

Bovine                        TTAFSSVTHICRDVNYGWIIRYMHANGASMFFICLYMHVGR

Rabbit                        TTAFSSVTHICRDVNYGWLIRYLHANGASMFFICLYMHVGR

Goat                          MTAFSSVTHICRDVNYGWIIRYMHANGASMFFICLFMHIGR

Sheep                         TTAFSSVTHICRDVNYGWIIRYMHANGASMFFICLFMHVGR

Cat                           MTAFSSVTHICRDVNYGWIIRYLHANGASMFFICLYMHVGR

Horse                         TTAFSSVTHICRDVNYGWIIRYLHANGASMFFICLFIHVGR

Chicken                       SLAFSSVAHTCRNVQYGWLIRNLHANGASFFFICIFLHIGR

Xenopus laevis                SMAFSSVAHICRDVNYGWLIRNLHANGASFFFICIYLHIGR

Zebrafish                     STAFSSVVHICRDVNFGWLIRSIHANGASFFFICLYIHIAR

Caenorhabditis elegans        LMAFSTVQYIMYEVNFGWVFRIFHFNGASLFFIFLYLHIFK

Drosophila                    NLAFYSVNHICRDVNYGWLLRTLHANGASFFFICIYLHVGR

Slime mold                    DLAFNSIERLVREVDYGWLLRYIHANGASFFFIVVYIHMLR

Baker's yeast                 ELAFSSVEHIMRDVHNGYILRYLHANGASFFFMVMFMHMAK

Fission yeast                 DLAFLSVERIVRDVNYGFLLRAFHANGASFFFIFLYLHIGR

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
Somatic mutations of the mitochondrial genome in human colorectal tumours.
Polyak K.; Li Y.; Zhu H.; Lengauer C.; Willson J.K.V.; Markowitz S.D.; Trush M.A.; Kinzler K.W.; Vogelstein B.;
Nat. Genet. 20:291-293(1998)
Cited for: VARIANTS COLORECTAL CANCER HIS-80 AND LEU-276;

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.