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:
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 QVKPLGKSPQVKPASTMGMG PLGKGAGPVPPGKVGPATPSA
Mouse KVKPLGKSSQVRPVSTVTPG SSGKGANLPCPGKVGSAALRV
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
57 – 1288 Disordered
503 – 503 Phosphoserine
533 – 533 Phosphothreonine
507 – 507 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
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;
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.