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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P00156: Variant p.Ala229Thr

Cytochrome b
Gene: MT-CYB
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Variant information Variant position: help 229 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Alanine (A) to Threonine (T) at position 229 (A229T, p.Ala229Thr). 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: help 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: help 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: help Links to websites of interest for the variant.


Sequence information Variant position: help 229 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 380 The length of the canonical sequence.
Location on the sequence: help LGITSHSDKITFHPYYTIKD A LGLLLFLLSLMTLTLFSPDL 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human                         LGITSHSDKITFHPYYTIKDALGLLLFLLSLMTLTLFSPDL

Gorilla                       LGIPSHSDKITFHPYYTIKDILGLFLFLLTLMTLTLFSPDL

                              SGITSDSDKIPFHPYYTIKDILGALLLLLILMSLVLFSPDL

Rhesus macaque                CGISSDSDKIAFHPYYTTKDILGLVLLLFILATLTLLSPNL

Chimpanzee                    LGITSHSDKITFHPYYTIKDILGLFLFLLILMTLTLFSPGL

Mouse                         TGLNSDADKIPFHPYYTIKDILGILIMFLILMTLVLFFPDM

Rat                           TGLNSDADKIPFHPYYTIKDLLGVFMLLLFLMTLVLFFPDL

Pig                           TGISSDMDKIPFHPYYTIKDILGALFMMLILLILVLFSPDL

Bovine                        TGISSDVDKIPFHPYYTIKDILGALLLILALMLLVLFAPDL

Rabbit                        TGIPSNSDKIPFHPYYTIKDTLGFLVAILLLLILVLFSPDL

Goat                          TGIPSDTDKIPFHPYYTIKDILGAMLLILVLMLLVLFTPDL

Sheep                         TGIPSDTDKIPFHPYYTIKDILGAILLILILMLLVLFTPDL

Cat                           SGITSDSDKIPFHPYYTIKDILGLLVLVLTLMLLVLFSPDL

Horse                         SGIPSDMDKIPFHPYYTIKDILGLLLLILLLLTLVLFSPDL

Chicken                       LGISSDSDKIPFHPYYSFKDILGLTLMLTPFLTLALFSPNL

Xenopus laevis                TGLNSDPDKVPFHPYFSYKDLLGFLIMLTALTLLAMFSPNL

Zebrafish                     LGLNPNMDKIPFHPYFSNKDLLGFVIMLFSLSLLALFSPNL

Caenorhabditis elegans        LYCHGDYDKVCFSPEYLGKDAYNIVIWLLFIV-LSLIYPFN

Drosophila                    IGLNSNIDKIPFHPYFTFKDIVGFIVMIFILISLVLISPNL

Slime mold                    LGVKSHVDQIPFTPYFTIKDLFSFMIFLVLFFTFVFFAPNY

Baker's yeast                 LGITGNLDRIPMHSYFIFKDLVTVFLFMLILALFVFYSPNT

Fission yeast                 LGVTANMDRIPMNPYYLIKDLITIFIFLIGINYMAFYNPYG

Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 1 – 380 Cytochrome b
Transmembrane 226 – 246 Helical
Helix 220 – 244



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;
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.