Variant position: 249 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 2492 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 LICCDFCHNAFCKKCILRNL GRKELSTIMDENNQWYCYICH
Chimpanzee LICCDFCHNAFCKKCILRNL GRKELSTIMDENNQWYCYICH
Mouse LICCDFCHNAFCKKCILRNL GRKELSTIMDENNQWYCYICQ
Caenorhabditis elegans -------------------- ---------------------
Drosophila -------------------- ---------------------
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 – 2492 Transcriptional regulator ATRX
159 – 296 ADD
217 – 272 PHD-type; atypical
252 – 252 E -> L. Impairs interaction with histone H3 peptides and reduces localization to pericentromeric heterochromatin foci.
The ATRX-ADD domain binds to H3 tail peptides and reads the combined methylation state of K4 and K9.
Dhayalan A.; Tamas R.; Bock I.; Tattermusch A.; Dimitrova E.; Kudithipudi S.; Ragozin S.; Jeltsch A.;
Hum. Mol. Genet. 20:2195-2203(2011)
Cited for: INTERACTION WITH TRIMETHYLATED HISTONE H3 'LYS-9'; CHARACTERIZATION OF VARIANTS ATRX CYS-246; LEU-246 AND ASP-249; MUTAGENESIS OF TYR-203; TYR-204; ILE-209; ASP-214 AND ASP-217;
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.