UniProtKB/Swiss-Prot P00156: Variant p.Thr194Ala

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

194 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 Threonine (T) to Alanine (A) at position 194 (T194A, p.Thr194Ala). 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 polar (T) to small size and hydrophobic (A) 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 rs2853508 [ dbSNP | Ensembl ]

Sequence information Variant position:

194 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:

TLTRFFTFHFILPFIIAALA T LHLLFLHETGSNNPLGITSH 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                         TLTRFFTFHFILPFIIAALATLHLLFLHETGSNNPLGITSH

Gorilla                       TLTRFFTFHFILPFIITALTTLHLLFLHETGSNNPLGIPSH

                              TLTRFFAFHFILPFIIAALAMVHLLFLHETGSNNPSGITSD

Rhesus macaque                TLTRFFTLHFILPFIIIALTTVHLLFLHETGSNNPCGISSD

Chimpanzee                    TLTRFFTFHFILPFIITALTTLHLLFLHETGSNNPLGITSH

Mouse                         TLTRFFAFHFILPFIIAALAIVHLLFLHETGSNNPTGLNSD

Rat                           TLTRFFAFHFILPFIIAALAIVHLLFLHETGSNNPTGLNSD

Pig                           TLTRFFAFHFILPFIITALAAVHLLFLHETGSNNPTGISSD

Bovine                        TLTRFFAFHFILPFIIMAIAMVHLLFLHETGSNNPTGISSD

Rabbit                        TLTRFFAFHFILPFIIATLVLIHLLFLHETGSNNPTGIPSN

Goat                          TLTRFFAFHFILPFIITALAMVHLLFLHETGSNNPTGIPSD

Sheep                         TLTRFFAFHFIFPFIIAALAMVHLLFLHETGSNNPTGIPSD

Cat                           TLTRFFGFHFILPFIISALAGVHLLFLHETGSNNPSGITSD

Horse                         TLTRFFAFHFILPFIITALVVVHLLFLHETGSNNPSGIPSD

Chicken                       TLTRFFALHFLLPFAIAGITIIHLTFLHESGSNNPLGISSD

Xenopus laevis                TLTRFFAFHFLLPFIIAGASILHLLFLHETGSTNPTGLNSD

Zebrafish                     TLTRFFAFHFLLPFIIIAMVILHLLFLHETGSNNPLGLNPN

Caenorhabditis elegans        TLKFFFVLHFLLPWAILVIVLGHLIFLHSTGSTSSLYCHGD

Drosophila                    TLTRFFTFHFILPFIVLAMTMIHLLFLHQTGSNNPIGLNSN

Slime mold                    TLNRFFSLHYLCPFIIVGLVGLHIIFLRENGSTNPLGVKSH

Baker's yeast                 TIQRFFALHYLVPFIIAAMVIMHLMALHIHGSSNPLGITGN

Fission yeast                 TLNRFFSLHYLMPFVIAALSVMHLIALHTNGSSNPLGVTAN

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 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; 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; 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.