Variant position: 163 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 596 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 GQDKNPEMCRVLLTHEIMCS RCCDKKSCGNRNETPSDPVII
Mouse GQDKNPEMCRVLLTHEIMCS RCCDKKSCGNRNETPSDPVII
Xenopus laevis GQDKNPEMCRVLLTHEIMCS RCCDKKSCGNRNETPSDPVII
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.
A syndromic neurodevelopmental disorder caused by de novo variants in EBF3.
Chao H.T.; Davids M.; Burke E.; Pappas J.G.; Rosenfeld J.A.; McCarty A.J.; Davis T.; Wolfe L.; Toro C.; Tifft C.; Xia F.; Stong N.; Johnson T.K.; Warr C.G.; Yamamoto S.; Adams D.R.; Markello T.C.; Gahl W.A.; Bellen H.J.; Wangler M.F.; Malicdan M.C.;
Am. J. Hum. Genet. 100:128-137(2017)
Cited for: VARIANTS HADDS GLN-163 AND LEU-163; CHARACTERIZATION OF VARIANTS HADDS GLN-163 AND LEU-163; FUNCTION;
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