UniProtKB/Swiss-Prot P00156: Variant p.Leu236Ile

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

236 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 Leucine (L) to Isoleucine (I) at position 236 (L236I, p.Leu236Ile). 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:

Similar physico-chemical property. Both residues are medium size and hydrophobic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

2 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 rs193302994 [ dbSNP | Ensembl ]

Sequence information Variant position:

236 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:

DKITFHPYYTIKDALGLLLF L LSLMTLTLFSPDLLGDPDNY 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                         DKITFHPYYTIKDALGLLLFLLSLMTLTLFSPDLLGDPDNY

Gorilla                       DKITFHPYYTIKDILGLFLFLLTLMTLTLFSPDLLGDPDNY

                              DKIPFHPYYTIKDILGALLLLLILMSLVLFSPDLLGDPDNY

Rhesus macaque                DKIAFHPYYTTKDILGLVLLLFILATLTLLSPNLLNDPDNY

Chimpanzee                    DKITFHPYYTIKDILGLFLFLLILMTLTLFSPGLLGDPDNY

Mouse                         DKIPFHPYYTIKDILGILIMFLILMTLVLFFPDMLGDPDNY

Rat                           DKIPFHPYYTIKDLLGVFMLLLFLMTLVLFFPDLLGDPDNY

Pig                           DKIPFHPYYTIKDILGALFMMLILLILVLFSPDLLGDPDNY

Bovine                        DKIPFHPYYTIKDILGALLLILALMLLVLFAPDLLGDPDNY

Rabbit                        DKIPFHPYYTIKDTLGFLVAILLLLILVLFSPDLLGDPDNY

Goat                          DKIPFHPYYTIKDILGAMLLILVLMLLVLFTPDLLGDPDNY

Sheep                         DKIPFHPYYTIKDILGAILLILILMLLVLFTPDLLGDPDNY

Cat                           DKIPFHPYYTIKDILGLLVLVLTLMLLVLFSPDLLGDPDNY

Horse                         DKIPFHPYYTIKDILGLLLLILLLLTLVLFSPDLLGDPDNY

Chicken                       DKIPFHPYYSFKDILGLTLMLTPFLTLALFSPNLLGDPENF

Xenopus laevis                DKVPFHPYFSYKDLLGFLIMLTALTLLAMFSPNLLGDPDNF

Zebrafish                     DKIPFHPYFSNKDLLGFVIMLFSLSLLALFSPNLLGDPENF

Caenorhabditis elegans        DKVCFSPEYLGKDAYNIVIWLLFIV-LSLIYPFNLGDAEMF

Drosophila                    DKIPFHPYFTFKDIVGFIVMIFILISLVLISPNLLGDPDNF

Slime mold                    DQIPFTPYFTIKDLFSFMIFLVLFFTFVFFAPNYLGHPDNY

Baker's yeast                 DRIPMHSYFIFKDLVTVFLFMLILALFVFYSPNTLGHPDNY

Fission yeast                 DRIPMNPYYLIKDLITIFIFLIGINYMAFYNPYGFMEPDCA

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	226 – 246	Helical
Helix	220 – 244

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.