Variant position: 175 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 ENLKKRGEDGLHGIVSCTAC GQQVNHFQKDSIYRHPSLQVL
Chimpanzee ENLKKRGEDGLHGIVSCTAC GQQVNHFQKDSIYRHPSLQVL
Mouse DNLKKRGEDGLHGIVSCTAC GQQVNHFQKDSIYRHPSLKVL
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
170 – 206 GATA-type; atypical
1 – 204 Missing. In isoform 1.
189 – 189 H -> N. Impairs interaction with histone H3 peptides and reduces localization to pericentromeric heterochromatin foci.
Evaluation of a mutation screening strategy for sporadic cases of ATR-X syndrome.
Villard L.; Bonino M.-C.; Abidi F.; Ragusa A.; Belougne J.; Lossi A.-M.; Seaver L.; Bonnefont J.-P.; Romano C.; Fichera M.; Lacombe D.; Hanauer A.; Philip N.; Schwartz C.E.; Fontes M.;
J. Med. Genet. 36:183-186(1999)
Cited for: VARIANTS ATRX GLU-175; 178-VAL--LYS-198 DEL; SER-190; PRO-219; LEU-246 AND CYS-249;
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.