Variant position: 225 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 815 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 VDSYSLEAKVELPTKRLKLE WVYGYRGRDCRNNLYLLPTGE
Mouse VDSYSLEAKAELPTKRLKLE WVYGYRGRDCRNNLYLLPTGE
Rat VDSYSLEAKAELPTKRLKLE WVYGYRGRDCRNNLYLLPTGE
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 – 815 Echinoderm microtubule-associated protein-like 1
176 – 815 Tandem atypical propeller in EMLs
220 – 227
Mutations in Eml1 lead to ectopic progenitors and neuronal heterotopia in mouse and human.
Kielar M.; Tuy F.P.; Bizzotto S.; Lebrand C.; de Juan Romero C.; Poirier K.; Oegema R.; Mancini G.M.; Bahi-Buisson N.; Olaso R.; Le Moing A.G.; Boutourlinsky K.; Boucher D.; Carpentier W.; Berquin P.; Deleuze J.F.; Belvindrah R.; Borrell V.; Welker E.; Chelly J.; Croquelois A.; Francis F.;
Nat. Neurosci. 17:923-933(2014)
Cited for: INVOLVEMENT IN BH; VARIANTS BH ARG-225 AND ALA-243; CHARACTERIZATION OF VARIANT BH ALA-243; SUBUNIT; SUBCELLULAR LOCATION;
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