Variant position: 2131 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 RLFIISTKAGSLGINLVAAN RVIIFDASWNPSYDIQSIFRV
Chimpanzee RLFIISTKAGSLGINLVAAN RVIIFDASWNPSYDIQSIFRV
Mouse RLFIISTKAGSLGINLVAAN RVIIFDASWNPSYDIQSIFRV
Caenorhabditis elegans RLMLISTRAGSLGTNMVAAN RVIIFDACWNPSHDTQSLFRV
Drosophila RLFLISTRAGGLGINLVAAN RVVIFDVSWNPSHDTQSIFRV
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
2025 – 2205 Helicase C-terminal
2010 – 2280 Interaction with MECP2
1419 – 2492 Missing. In isoform 6.
XNP mutation in a large family with Juberg-Marsidi syndrome.
Villard L.; Gecz J.; Mattei J.-F.; Fontes M.; Saugier-Veber P.; Munnich A.; Lyonnet S.;
Nat. Genet. 12:359-360(1996)
Cited for: VARIANT MRXHF1 GLN-2131;
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