UniProtKB/Swiss-Prot P00156: Variant p.Ala191Thr

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

191 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 Alanine (A) to Threonine (T) at position 191 (A191T, p.Ala191Thr). 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 small size and hydrophobic (A) to medium size and polar (T) 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 rs2853507 [ dbSNP | Ensembl ]

Sequence information Variant position:

191 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:

DSPTLTRFFTFHFILPFIIA A LATLHLLFLHETGSNNPLGI 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                         DSPTLTRFFTFHFILPFIIAALATLHLLFLHETGSNNPLGI

Gorilla                       DSPTLTRFFTFHFILPFIITALTTLHLLFLHETGSNNPLGI

                              DKATLTRFFAFHFILPFIIAALAMVHLLFLHETGSNNPSGI

Rhesus macaque                DSPTLTRFFTLHFILPFIIIALTTVHLLFLHETGSNNPCGI

Chimpanzee                    DSPTLTRFFTFHFILPFIITALTTLHLLFLHETGSNNPLGI

Mouse                         DKATLTRFFAFHFILPFIIAALAIVHLLFLHETGSNNPTGL

Rat                           DKATLTRFFAFHFILPFIIAALAIVHLLFLHETGSNNPTGL

Pig                           DKATLTRFFAFHFILPFIITALAAVHLLFLHETGSNNPTGI

Bovine                        DKATLTRFFAFHFILPFIIMAIAMVHLLFLHETGSNNPTGI

Rabbit                        DKATLTRFFAFHFILPFIIATLVLIHLLFLHETGSNNPTGI

Goat                          DKATLTRFFAFHFILPFIITALAMVHLLFLHETGSNNPTGI

Sheep                         DKATLTRFFAFHFIFPFIIAALAMVHLLFLHETGSNNPTGI

Cat                           DKATLTRFFGFHFILPFIISALAGVHLLFLHETGSNNPSGI

Horse                         DKATLTRFFAFHFILPFIITALVVVHLLFLHETGSNNPSGI

Chicken                       DNPTLTRFFALHFLLPFAIAGITIIHLTFLHESGSNNPLGI

Xenopus laevis                DNATLTRFFAFHFLLPFIIAGASILHLLFLHETGSTNPTGL

Zebrafish                     DNATLTRFFAFHFLLPFIIIAMVILHLLFLHETGSNNPLGL

Caenorhabditis elegans        TGATLKFFFVLHFLLPWAILVIVLGHLIFLHSTGSTSSLYC

Drosophila                    DNATLTRFFTFHFILPFIVLAMTMIHLLFLHQTGSNNPIGL

Slime mold                    DNPTLNRFFSLHYLCPFIIVGLVGLHIIFLRENGSTNPLGV

Baker's yeast                 SNPTIQRFFALHYLVPFIIAAMVIMHLMALHIHGSSNPLGI

Fission yeast                 SNPTLNRFFSLHYLMPFVIAALSVMHLIALHTNGSSNPLGV

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	178 – 198	Helical
Binding site	182 – 182	axial binding residue
Binding site	196 – 196	axial binding residue
Binding site	201 – 201
Helix	172 – 200

Literature citations
Recent African origin of modern humans revealed by complete sequences of hominoid mitochondrial DNAs.
Horai S.; Hayasaka K.; Kondo R.; Tsugane K.; Takahata N.;
Proc. Natl. Acad. Sci. U.S.A. 92:532-536(1995)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS ILE-7; THR-191; ALA-194 AND THR-229; Mitochondrial genome diversity of native Americans supports a single early entry of founder populations into America.
Silva W.A. Jr.; Bonatto S.L.; Holanda A.J.; Ribeiro-Dos-Santos A.K.; Paixao B.M.; Goldman G.H.; Abe-Sandes K.; Rodriguez-Delfin L.; Barbosa M.; Paco-Larson M.L.; Petzl-Erler M.L.; Valente V.; Santos S.E.; Zago M.A.;
Am. J. Hum. Genet. 71:187-192(2002)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-378; VARIANTS ILE-7; THR-39; VAL-78; THR-191; ALA-194 AND ASP-260;

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.