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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P00156: Variant p.Ser151Pro

Cytochrome b
Gene: MT-CYB
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Variant information Variant position: help 151 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 Serine (S) to Proline (P) at position 151 (S151P, p.Ser151Pro). 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 polar (S) to medium size and hydrophobic (P) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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: help In exercise intolerance. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 151 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 YVLPWGQMSFWGATVITNLL S AIPYIGTDLVQWIWGGYSVD 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                         YVLPWGQMSFWGATVITNLLSAIPYIGTDLVQWIWGGYSVD

Gorilla                       YVLPWGQMSFWGATVITNLLSAIPYIGTDLVQWVWGGYSVD

                              YVLPWGQMSFWGATVITNLLSAIPYIGTDLVEWIWGGFSVD

Rhesus macaque                YVLPWGQMSFWGATVITNLLSAIPYIGTNLVQWIWGGYAID

Chimpanzee                    YVLPWGQMSFWGATVITNLLSAIPYIGTDLVQWVWGGYSVD

Mouse                         YVLPWGQMSFWGATVITNLLSAIPYIGTTLVEWIWGGFSVD

Rat                           YVLPWGQMSFWGATVITNLLSAIPYIGTTLVEWIWGGFSVD

Pig                           YVLPWGQMSFWGATVITNLLSAIPYIGTDLVEWIWGGFSVD

Bovine                        YVLPWGQMSFWGATVITNLLSAIPYIGTNLVEWIWGGFSVD

Rabbit                        YVLPWGQMSFWGATVITNLLSAIPYIGTTLVEWIWGGFSVD

Goat                          YVLPWGQMSFWGATVITNLLSAIPYIGTNLVEWIWGGFSVD

Sheep                         YVLPWGQMSFWGATVITNLLSAIPYIGTNLVEWIWGGFSVD

Cat                           YVLPWGQMSFWGATVITNLLSAIPYIGTELVEWIWGGFSVD

Horse                         YVLPWGQMSFWGATVITNLLSAIPYIGTTLVEWIWGGFSVD

Chicken                       YVLPWGQMSFWGATVITNLFSAIPYIGHTLVEWAWGGFSVD

Xenopus laevis                YVLPWGQMSFWGATVITNLLSAIPYIGNVLVQWIWGGFSVD

Zebrafish                     YVLPWGQMSFWGATVITNLLSAVPYVGDTLVQWIWGGFSVD

Caenorhabditis elegans        YVLVWAQMSFWAAVVITSLLSVIPIWGPTIVTWIWSGFGVT

Drosophila                    YVLPWGQMSFWGATVITNLLSAIPYLGMDLVQWLWGGFAVD

Slime mold                    YVLPWGQMSYWAATVITNLVTVLPVIGEDIVIWLWGGFNVD

Baker's yeast                 YCCVYGQMSHWGATVITNLFSAIPFVGNDIVSWLWGGFSVS

Fission yeast                 YCLPANQMSFWGATVITNLLSAVPFIGDDLVHLLWGGFSVS

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
Helix 149 – 152



Literature citations
Functional characterization of novel mutations in the human cytochrome b gene.
Legros F.; Chatzoglou E.; Frachon P.; de Baulny H.O.; Laforet P.; Jardel C.; Godinot C.; Lombes A.;
Eur. J. Hum. Genet. 9:510-518(2001)
Cited for: VARIANT EXERCISE INTOLERANCE PRO-151;
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.