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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q86YN6: Variant p.Arg265Gln

Peroxisome proliferator-activated receptor gamma coactivator 1-beta
Gene: PPARGC1B
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Variant information Variant position: help 265 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 Arginine (R) to Glutamine (Q) at position 265 (R265Q, p.Arg265Gln). 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 large size and basic (R) to medium size and polar (Q) 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

Polymorphism: help Variation of PPARGC1B may contribute to the pathogenesis of obesity, with a widespread Ala-203 allele being a risk factor for the development of this common disorders. Additional information on the polymorphism described.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 265 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1023 The length of the canonical sequence.
Location on the sequence: help KEDKEPGEDCPSPQPAPASP R DSLALGRADPGAPVSQEDMQ 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                         K-EDKEPGEDCPSPQPAPASPRDSLALGRADP-GAPVSQEDMQ

Mouse                         KEEEEEVGEDCPSPWPTPASPQDSLAQDTASPDSAQPPEED

Rat                           K-EDEEVGEDCPSPWPAPASPQDSLGQDTANPNSAQVPKDD

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 – 1023 Peroxisome proliferator-activated receptor gamma coactivator 1-beta
Region 237 – 278 Disordered



Literature citations
Characterization of the human, mouse and rat PGC1 beta (peroxisome-proliferator-activated receptor-gamma co-activator 1 beta) gene in vitro and in vivo.
Meirhaeghe A.; Crowley V.; Lenaghan C.; Lelliott C.; Green K.; Stewart A.; Hart K.; Schinner S.; Sethi J.K.; Yeo G.; Brand M.D.; Cortright R.N.; O'Rahilly S.; Montague C.; Vidal-Puig A.J.;
Biochem. J. 373:155-165(2003)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2; 3 AND 4); TISSUE SPECIFICITY; FUNCTION; VARIANT GLN-265;
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.