Variant position: 952 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1281 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 PLNIIKQNNGEQIIRRRTRK RLNPEALQAEQLNKQQRGSNE
Mouse PLNIIKQNNGEQIIRRRTRK RLNPEALQAEQLNKQQRGSGE
Xenopus laevis PLNIIKQNNGEQIIRRRTRK RLNPEALQPEQLTKHQRASSE
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 – 1281 Zinc finger transcription factor Trps1
937 – 937 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
965 – 965 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
Novel missense mutations in the TRPS1 transcription factor define the nuclear localization signal.
Kaiser F.J.; Brega P.; Raff M.L.; Byers P.H.; Gallati S.; Kay T.T.; de Almeida S.; Horsthemke B.; Luedecke H.-J.;
Eur. J. Hum. Genet. 12:121-126(2004)
Cited for: VARIANTS TRPS1 CYS-952 AND HIS-952; CHARACTERIZATION OF VARIANTS TRPS1 CYS-952 AND HIS-952;
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.