Variant position: 596 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 SKTTAKVTKELYVKLTPVSL SNSPIKGADCQEVPQDKDGYK
Chimpanzee SKTTAKVTKELYVKLTPVSL SNSPIKGADCQEVPQDKDGYK
Mouse SKVTAKVRKELFVKLTPVSL SNSPIKGVDCQEVSQEKNGRK
Caenorhabditis elegans -------------------- ---------------------
Drosophila -------------------- ------------VPLEK----
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
591 – 591 Phosphothreonine
594 – 594 Phosphoserine
598 – 598 Phosphoserine
573 – 601 Missing. In isoform 6.
Determination of the genomic structure of the XNP/ATRX gene encoding a potential zinc finger helicase.
Villard L.; Lossi A.-M.; Cardoso C.; Proud V.; Chiaroni P.; Colleaux L.; Schwartz C.; Fontes M.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2 AND 4); VARIANTS PRO-596 AND GLY-740;
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