Variant position: 552 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 739 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 SATAPGNFLLANPVSGSPIV TGVALQQGKIILTATFPTSML
Mouse SSTAPGNFLLANPVSGSPIV TGVAVQQGKIILTATFPTSML
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 – 739 Homeobox protein SIX5
Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome.
Hoskins B.E.; Cramer C.H.; Silvius D.; Zou D.; Raymond R.M.; Orten D.J.; Kimberling W.J.; Smith R.J.H.; Weil D.; Petit C.; Otto E.A.; Xu P.-X.; Hildebrandt F.;
Am. J. Hum. Genet. 80:800-804(2007)
Cited for: VARIANTS BOR2 THR-158; THR-296; ARG-365 AND MET-552; CHARACTERIZATION OF VARIANTS BOR2 THR-158 AND MET-552;
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