Variant position: 99 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 156 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 FPLTTESAMKKIEDNNTLVF IVDVKANKHQIKQAVKKLYDI
Mouse FPLTTESAMKKIEDNNTLVF IVDVKANKHQIKQAVKKLYDI
Rat FPLTTESAMKKIEDNNTLVF IVDVKANKHQIKQAVKKLYDI
Bovine FPLTTESAMKKIEDNNTLVF IVDVKANKHQIKQAVKKLYDI
Slime mold APLTTESATQKIEGSNTITF MVDMFANKSQVADAVAKMYDV
Baker's yeast MVMATVKKGKPELRKKVMPA IVVRQAKSWRRRDGVFLYFE-
Fission yeast MVLATVKKGKPDLRKKIMPA IVVRQRKAWRRKDGVYLYFE-
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
2 – 156 60S ribosomal protein L23a
Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-blackfan anemia.
Gazda H.T.; Preti M.; Sheen M.R.; O'Donohue M.F.; Vlachos A.; Davies S.M.; Kattamis A.; Doherty L.; Landowski M.; Buros C.; Ghazvinian R.; Sieff C.A.; Newburger P.E.; Niewiadomska E.; Matysiak M.; Glader B.; Atsidaftos E.; Lipton J.M.; Gleizes P.E.; Beggs A.H.;
Hum. Mutat. 33:1037-1044(2012)
Cited for: VARIANT THR-99;
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