UniProtKB/Swiss-Prot P00156: Variant p.Gly290Asp

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

290 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 Glycine (G) to Aspartate (D) at position 290 (G290D, p.Gly290Asp). 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 glycine (G) to medium size and acidic (D) 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
Variant description:

In exercise intolerance. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs207459997 [ dbSNP | Ensembl ]

Sequence information Variant position:

290 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:

PEWYFLFAYTILRSVPNKLG G VLALLLSILILAMIPILHMS 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                         PEWYFLFAYTILRSVPNKLGGVLALLLSILILAMIPILHMS

Gorilla                       PEWYFLFAYAILRSVPNKLGGVLALLLSILILAMIPILHMS

                              PEWYFLFAYAILRSIPNKLGGVLALVFSILILAFIPLLHTS

Rhesus macaque                PEWYFLFAYTILRSIPNKLGGVLALFLSILILAAIPMLHKS

Chimpanzee                    PEWYFLFAYTILRSIPNKLGGVLALLLSILILTAIPVLHTS

Mouse                         PEWYFLFAYAILRSIPNKLGGVLALILSILILALMPFLHTS

Rat                           PEWYFLFAYAILRSIPNKLGGVVALILSILILAFLPFLHTS

Pig                           PEWYFLFAYAILRSIPNKLGGVLALVASILILILMPMLHTS

Bovine                        PEWYFLFAYAILRSIPNKLGGVLALAFSILILALIPLLHTS

Rabbit                        PEWYFLFAYAILRSIPNKLGGVLALVLSILVLAFIPFLHMS

Goat                          PEWYFLFAYAILRSIPNKLGGVLALVLSILILVLVPFLHTS

Sheep                         PEWYFLFAYAILRSIPNKLGGVLALVLSILVLVIMPLLHTS

Cat                           PEWYFLFAYAILRSIPNKLGGVLALVLSILVLAIIPILHTS

Horse                         PEWYFLFAYAILRSIPNKLGGVLALILSILILALIPTLHMS

Chicken                       PEWYFLFAYAILRSIPNKLGGVLALAASVLILFLIPFLHKS

Xenopus laevis                PEWYFLFAYAILRSIPNKLGGVLALVLSILILALMPLLHTS

Zebrafish                     PEWYFLFAYAILRSIPNKLGGVLALLFSILVLMVVPILHTS

Caenorhabditis elegans        PEWYFLFAYAILRAIPNKVLGVIALLMSIVTFYFFALVN--

Drosophila                    PEWYFLFAYAILRSIPNKLGGVIALVLSIAILMILPFYNLS

Slime mold                    PEWYLLPFYAMLRSIPNKVLGVLALVLAIVVLAFLPFLTIA

Baker's yeast                 PEWYLLPFYAILRSIPDKLLGVITMFAAILVLLVLPFTDRS

Fission yeast                 PEWYLLPFYAILRAIPNFQLGVIAMLLSILVLLLLPLLDFS

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	289 – 303

Literature citations
A novel gly290asp mitochondrial cytochrome b mutation linked to a complex III deficiency in progressive exercise intolerance.
Dumoulin R.; Sagnol I.; Ferlin T.; Bozon D.; Stepien G.; Mousson B.;
Mol. Cell. Probes 10:389-391(1996)
Cited for: VARIANT EXERCISE INTOLERANCE ASP-290;

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.