UniProtKB/Swiss-Prot P00156: Variant p.Ile306Thr

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

306 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 Isoleucine (I) to Threonine (T) at position 306 (I306T, p.Ile306Thr). 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 hydrophobic (I) to medium size and polar (T) 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 rs369851331 [ dbSNP | Ensembl ]

Sequence information Variant position:

306 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:

NKLGGVLALLLSILILAMIP I LHMSKQQSMMFRPLSQSLYW 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                         NKLGGVLALLLSILILAMIPILHMSKQQSMMFRPLSQSLYW

Gorilla                       NKLGGVLALLLSILILAMIPILHMSKQQSMMFRPLSQLLYW

                              NKLGGVLALVFSILILAFIPLLHTSKQRSMMFRPLSQCLFW

Rhesus macaque                NKLGGVLALFLSILILAAIPMLHKSKQQSMMFRPLSQFLFW

Chimpanzee                    NKLGGVLALLLSILILTAIPVLHTSKQQSMMFRPLSQLLYW

Mouse                         NKLGGVLALILSILILALMPFLHTSKQRSLMFRPITQILYW

Rat                           NKLGGVVALILSILILAFLPFLHTSKQRSLTFRPITQILYW

Pig                           NKLGGVLALVASILILILMPMLHTSKQRGMMFRPLSQCLFW

Bovine                        NKLGGVLALAFSILILALIPLLHTSKQRSMMFRPLSQCLFW

Rabbit                        NKLGGVLALVLSILVLAFIPFLHMSKQRSMMFRPISQVLFW

Goat                          NKLGGVLALVLSILILVLVPFLHTSKQRSMMFRPISQCMFW

Sheep                         NKLGGVLALVLSILVLVIMPLLHTSKQRSMMFRPISQCMFW

Cat                           NKLGGVLALVLSILVLAIIPILHTSKQRGMMFRPLSQCLFW

Horse                         NKLGGVLALILSILILALIPTLHMSKQRSMMFRPLSQCVFW

Chicken                       NKLGGVLALAASVLILFLIPFLHKSKQRTMTFRPLSQTLFW

Xenopus laevis                NKLGGVLALVLSILILALMPLLHTSKQRSLMFRPFTQIMFW

Zebrafish                     NKLGGVLALLFSILVLMVVPILHTSKQRGMAFRPVTQFLFW

Caenorhabditis elegans        NKVLGVIALLMSIVTFYFFALVN---NYTSCLTKLNKFLVF

Drosophila                    NKLGGVIALVLSIAILMILPFYNLSKFRGIQFYPINQVMFW

Slime mold                    NKVLGVLALVLAIVVLAFLPFLTIAEVRSSYFRKIHKHLFW

Baker's yeast                 DKLLGVITMFAAILVLLVLPFTDRSVVRGNTFKVLSKFFFF

Fission yeast                 NFQLGVIAMLLSILVLLLLPLLDFSAIRGNSFNPFGKFFFW

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	288 – 308	Helical
Helix	304 – 307

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;

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.