UniProtKB/Swiss-Prot P00156: Variant p.Gly166Glu

Cytochrome b
Gene: MT-CYB
Feedback?

Variant information Variant position:

166 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 Glutamate (E) at position 166 (G166E, p.Gly166Glu). 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 (E) 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
Variant description:

In hyperthrophic cardiomyopathy. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs1603225167 [ dbSNP | Ensembl ]

Sequence information Variant position:

166 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:

ITNLLSAIPYIGTDLVQWIW G GYSVDSPTLTRFFTFHFILP 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                         ITNLLSAIPYIGTDLVQWIWGGYSVDSPTLTRFFTFHFILP

Gorilla                       ITNLLSAIPYIGTDLVQWVWGGYSVDSPTLTRFFTFHFILP

                              ITNLLSAIPYIGTDLVEWIWGGFSVDKATLTRFFAFHFILP

Rhesus macaque                ITNLLSAIPYIGTNLVQWIWGGYAIDSPTLTRFFTLHFILP

Chimpanzee                    ITNLLSAIPYIGTDLVQWVWGGYSVDSPTLTRFFTFHFILP

Mouse                         ITNLLSAIPYIGTTLVEWIWGGFSVDKATLTRFFAFHFILP

Rat                           ITNLLSAIPYIGTTLVEWIWGGFSVDKATLTRFFAFHFILP

Pig                           ITNLLSAIPYIGTDLVEWIWGGFSVDKATLTRFFAFHFILP

Bovine                        ITNLLSAIPYIGTNLVEWIWGGFSVDKATLTRFFAFHFILP

Rabbit                        ITNLLSAIPYIGTTLVEWIWGGFSVDKATLTRFFAFHFILP

Goat                          ITNLLSAIPYIGTNLVEWIWGGFSVDKATLTRFFAFHFILP

Sheep                         ITNLLSAIPYIGTNLVEWIWGGFSVDKATLTRFFAFHFIFP

Cat                           ITNLLSAIPYIGTELVEWIWGGFSVDKATLTRFFGFHFILP

Horse                         ITNLLSAIPYIGTTLVEWIWGGFSVDKATLTRFFAFHFILP

Chicken                       ITNLFSAIPYIGHTLVEWAWGGFSVDNPTLTRFFALHFLLP

Xenopus laevis                ITNLLSAIPYIGNVLVQWIWGGFSVDNATLTRFFAFHFLLP

Zebrafish                     ITNLLSAVPYVGDTLVQWIWGGFSVDNATLTRFFAFHFLLP

Caenorhabditis elegans        ITSLLSVIPIWGPTIVTWIWSGFGVTGATLKFFFVLHFLLP

Drosophila                    ITNLLSAIPYLGMDLVQWLWGGFAVDNATLTRFFTFHFILP

Slime mold                    ITNLVTVLPVIGEDIVIWLWGGFNVDNPTLNRFFSLHYLCP

Baker's yeast                 ITNLFSAIPFVGNDIVSWLWGGFSVSNPTIQRFFALHYLVP

Fission yeast                 ITNLLSAVPFIGDDLVHLLWGGFSVSNPTLNRFFSLHYLMP

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
Binding site	182 – 182	axial binding residue

Literature citations
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.