UniProtKB/Swiss-Prot P00156: Variant p.Phe18Leu

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

18 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 Phenylalanine (F) to Leucine (L) at position 18 (F18L, p.Phe18Leu). 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 aromatic (F) to medium size and hydrophobic (L) 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 rs28357681 [ dbSNP | Ensembl ]

Sequence information Variant position:

18 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:

MTPMRKTNPLMKLINHS F IDLPTPSNISAWWNFGSLLG 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                         MTPMRKTNPLMKLINHSFIDLPTPSNISAWWNFGSLLG

Gorilla                       MTPMRKTNPLAKLINHSFIDLPTPSNISTWWNFGSLLG

                              MTNIRKTHPLAKIVNNSFIDLPAPSNISAWWNFGSLLG

Rhesus macaque                MTPMRKSNPILKMINRSFIDLPAPPNLSMWWNFGSLLA

Chimpanzee                    MTPTRKINPLMKLINHSFIDLPTPSNISAWWNFGSLLG

Mouse                         MTNMRKTHPLFKIINHSFIDLPAPSNISSWWNFGSLLG

Rat                           MTNIRKSHPLFKIINHSFIDLPAPSNISSWWNFGSLLG

Pig                           MTNIRKSHPLMKIINNAFIDLPAPSNISSWWNFGSLLG

Bovine                        MTNIRKSHPLMKIVNNAFIDLPAPSNISSWWNFGSLLG

Rabbit                        MTNIRKTHPLLKIVNHSLIDLPAPSNISAWWNFGSLLG

Goat                          MTNIRKTHPLMKIVNNAFIDLPTPSNISSWWNFGSLLG

Sheep                         MINIRKTHPLMKIVNNAFIDLPAPSNISSWWNFGSLLG

Cat                           MTNIRKSHPLIKIINHSFIDLPAPSNISAWWNFGSLLG

Horse                         MTNIRKSHPLIKIINHSFIDLPAPSNISSWWNFGSLLG

Chicken                       APNIRKSHPLLKMINNSLIDLPAPSNISAWWNFGSLLA

Xenopus laevis                APNIRKSHPLIKIINNSFIDLPTPSNISSLWNFGSLLG

Zebrafish                     MTSLRKTHPVLKIANDALVDLPTPLNISAWWNFGSLLG

Caenorhabditis elegans        ---MKINNSLLNFVNGMLVTLPSSKTLTLSWNFGSMLG

Drosophila                    NKPLRNSHPLFKIANNALVDLPAPINISSWWNFGSLLG

Slime mold                    -MRLVKKNVVINGIYEAGVRYPEPANISYLWNFGFFSL

Baker's yeast                 -MAFRKSNVYLSLVNSYIIDSPQPSSINYWWNMGSLLG

Fission yeast                 -MKILKSNPFLALANNYMIDAPEPSNISYFWNFGSLLA

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
Helix	15 – 19

Literature citations
Mitochondrial genome variation and the origin of modern humans.
Ingman M.; Kaessmann H.; Paeaebo S.; Gyllensten U.;
Nature 408:708-713(2000)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-378; VARIANTS ILE-7; SER-8; LEU-18; VAL-39; THR-78; THR-122; ALA-123; THR-153; ALA-194; THR-229; ILE-236; THR-306; THR-329; VAL-334; MET-353; MET-356 AND ILE-368;
Major genomic mitochondrial lineages delineate early human expansions.
Maca-Meyer N.; Gonzalez A.M.; Larruga J.M.; Flores C.; Cabrera V.M.;
BMC Genet. 2:13-13(2001)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-378; VARIANTS ILE-7; SER-8; LEU-18; THR-122; VAL-164; 189-ILE-ALA-190 DELINS VAL-THR; ALA-194; THR-229; ILE-236; THR-330; ALA-360 AND ILE-368;
A mitochondrial cytochrome b mutation but no mutations of nuclearly encoded subunits in ubiquinol cytochrome c reductase (complex III) deficiency.
Valnot I.; Kassis J.; Chretien D.; de Lonlay P.; Parfait B.; Munnich A.; Kachaner J.; Rustin P.; Roetig A.;
Hum. Genet. 104:460-466(1999)
Cited for: VARIANT HCM GLU-166; VARIANTS ILE-7; SER-8; LEU-18; ALA-194; ILE-236 AND THR-316;

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.