Variant position: 56 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 133 The length of the canonical sequence.
Location on the sequence:
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 DRHCVTFVLHEEDHTLGNSL RYMIMKNPEVEFCGYTTTHPS
Mouse DRQCVTFVLHEEDHTLGNCL RYIIMKNPEVEFCGYTTTHPS
Bovine DRHCVTFVLHEEDHTLGNSL RYMIMKNPEVEFCGYTTTHPS
Xenopus laevis EESCVTFVLHEEDHTLGNSL RYMVMKNPEVEFCGYSITHPS
Zebrafish DEGCVTFVLNEEDHTLGNSL RYMIMKSQDVEFCGYSITHPS
Caenorhabditis elegans DPSNLTLIMYEEDHTIGNSI KHILSRMDEVEFCGYNVPHPL
Drosophila GEGSRTFVFTNEGHTLGNAL KTIIARYPEVDFCGYTIPHPT
Baker's yeast DGTSASFQIVEEDHTLGNAL RYVIMKNPDVEFCGYSIPHPS
Fission yeast DLTSVTFQIQKEDHTLGNSL RYVIMKNPEVEFCGYSIPHPS
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
1 – 133 DNA-directed RNA polymerases I and III subunit RPAC2
11 – 133 ISGLKTSMAEGERKTALEMVQAAGTDRHCVTFVLHEEDHTLGNSLRYMIMKNPEVEFCGYTTTHPSESKINLRIQTRGTLPAVEPFQRGLNELMNVCQHVLDKFEASIKDYKDQKASRNESTF -> AIEELLKEAKRGKTRAETMGPMGWMKCPLASTNKRFLINTIKNTLPSHKEQDHEQKEGDKEPAKSQAQKEENPKKHRSHPYKHSFRARGSASYSPPRKRSSQDKYEKRSNRR. In isoform 2.
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;
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.