Sequence information
Variant position: 516 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:
QVKPLGKSPQVKPASTMGMG
P LGKGAGPVPPGKVGPATPSA
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 QVKPLGKSPQVKPASTMGMGP LGKGAGPVPPGKVGPATPSA
Mouse KVKPLGKSSQVRPVSTVTPGS SGKGANLPCPGKVGSAALRV
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
Chain
1 – 1488
Treacle protein
Region
57 – 1288
Disordered
Modified residue
503 – 503
Phosphoserine
Modified residue
533 – 533
Phosphothreonine
Cross
507 – 507
Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
Literature citations
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;
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.