Variant position: 53 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1488 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 QSGQKCFLAQPVTLLDIYTH WQQTSELGRKRKAEEDAALQA
Mouse QSGQKSFLTQPVTLLDIYTH WQQTSELGQKQKAEDDETLQA
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 – 1488 Treacle protein
The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature-termination codon.
Edwards S.J.; Gladwin A.J.; Dixon M.J.;
Am. J. Hum. Genet. 60:515-524(1997)
Cited for: VARIANTS LEU-516; ALA-887; VAL-1390 AND GLY-1432; VARIANT TCS1 ARG-53;
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