Variant position: 1712 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 3036 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 TTFFSHNFNEDRWRKAALKN AFSLLGKQRFEQSAAFFLLAG
Mouse TTFFSHNFNEDRWRKAALKN AFSLLGKQRFEQSAAFFLLAG
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 – 3036 DmX-like protein 2
Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course.
Esposito A.; Falace A.; Wagner M.; Gal M.; Mei D.; Conti V.; Pisano T.; Aprile D.; Cerullo M.S.; De Fusco A.; Giovedi S.; Seibt A.; Magen D.; Polster T.; Eran A.; Stenton S.L.; Fiorillo C.; Ravid S.; Mayatepek E.; Hafner H.; Wortmann S.; Levanon E.Y.; Marini C.; Mandel H.; Benfenati F.; Distelmaier F.; Fassio A.; Guerrini R.;
Cited for: INVOLVEMENT IN DEE81; VARIANTS DEE81 1493-SER--LEU-3036 DEL AND VAL-1712;
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