Variant position: 1621 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 TLQVVSFLHTVLL-CDKLD--FS TALVVCPLNTALNWMNEFEKW
Chimpanzee TLQVVSFLHTVLL-CDKLD--FS TALVVCPLNTALNWMNEF
Mouse TLQVVSFLHTVLL-CDKLD--FS TALVVCPLNTALNWMNEF
Caenorhabditis elegans TLQVITFLHTVLM-HEKIGEKCK RVLVVVPKNVIINWFKEF
Drosophila TLQVVTLSHTLLVNTRRTG--VD RVLIISPLSTVNNWAREF
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
1581 – 1768 Helicase ATP-binding
1419 – 2492 Missing. In isoform 6.
Expanding phenotype of XNP mutations: mild to moderate mental retardation.
Yntema H.G.; Poppelaars F.A.; Derksen E.; Oudakker A.R.; van Roosmalen T.; Jacobs A.; Obbema H.; Brunner H.G.; Hamel B.C.J.; van Bokhoven H.;
Am. J. Med. Genet. 110:243-247(2002)
Cited for: VARIANT ATRX MET-1621;
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