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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P0DPB6: Variant p.Leu82Ser

DNA-directed RNA polymerases I and III subunit RPAC2
Gene: POLR1D
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Variant information Variant position: help 82 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] 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 Leucine (L) to Serine (S) at position 82 (L82S, p.Leu82Ser). 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 medium size and hydrophobic (L) to small size and polar (S) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -2 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 TCS2. Any additional useful information about the variant.


Sequence information Variant position: help 82 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 133 The length of the canonical sequence.
Location on the sequence: help NPEVEFCGYTTTHPSESKIN L RIQTRGTLPAVEPFQRGLNE 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                         NPEVEFCGYTTTHPSESKINLRIQTRGTLPAVEPFQRGLNE

Mouse                         NPEVEFCGYTTTHPSESKINLRIQTRGALPAVEPFQKGLNE

Bovine                        NPEVEFCGYTTTHPSESKINLRIQTRGALPAVEPFQRGLTD

Xenopus laevis                NPEVEFCGYSITHPSETKINFRIQTRNGIPAVEPFRRGLNE

Zebrafish                     SQDVEFCGYSITHPSESKINFRIQTRDGVPASEPLRNGLNN

Caenorhabditis elegans        MDEVEFCGYNVPHPLEDKILFRVQTKDGINALEVLAKAFES

Drosophila                    YPEVDFCGYTIPHPTEQKLHFRIQSRRD-RAIDILKRGLED

Baker's yeast                 NPDVEFCGYSIPHPSENLLNIRIQTYGETTAVDALQKGLKD

Fission yeast                 NPEVEFCGYSIPHPSEAKMNFRIQTAPSTTAVDVLRKGLDD
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 – 133 DNA-directed RNA polymerases I and III subunit RPAC2
Beta strand 79 – 90



Literature citations
Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome.
Dauwerse J.G.; Dixon J.; Seland S.; Ruivenkamp C.A.; van Haeringen A.; Hoefsloot L.H.; Peters D.J.; Boers A.C.; Daumer-Haas C.; Maiwald R.; Zweier C.; Kerr B.; Cobo A.M.; Toral J.F.; Hoogeboom A.J.; Lohmann D.R.; Hehr U.; Dixon M.J.; Breuning M.H.; Wieczorek D.;
Nat. Genet. 43:20-22(2011)
Cited for: VARIANTS TCS2 LYS-47; ILE-50; ARG-51; GLU-52; CYS-56; SER-82 AND SER-99;
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.