Variant position: 129 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 284 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 YRVRRKFPLPRTIWDGEETS YCFKEKSRGVLREWYAHNPYP
Gorilla YRVRRKFPLPRTIWDGEETS YCFKEKSRGVLREWYAHNPYP
Mouse YRVRRKFPLPRTIWDGEETS YCFKEKSRGVLREWYAHNPYP
Xenopus laevis YRVRRKFPLPRTIWDGEETS YCFKEKSRGVLREWYAHNPYP
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 – 284 Homeobox protein SIX1
124 – 183 Homeobox
SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes.
Ruf R.G.; Xu P.-X.; Silvius D.; Otto E.A.; Beekmann F.; Muerb U.T.; Kumar S.; Neuhaus T.J.; Kemper M.J.; Raymond R.M. Jr.; Brophy P.D.; Berkman J.; Gattas M.; Hyland V.; Ruf E.-M.; Schwartz C.; Chang E.H.; Smith R.J.H.; Stratakis C.A.; Weil D.; Petit C.; Hildebrandt F.;
Proc. Natl. Acad. Sci. U.S.A. 101:8090-8095(2004)
Cited for: VARIANTS BOS3 TRP-110 AND CYS-129; VARIANT DFNA23 GLU-133 DEL; CHARACTERIZATION OF VARIANTS BOS3 TRP-110 AND CYS-129; CHARACTERIZATION OF VARIANT DFNA23 GLU-133 DEL; FUNCTION; INTERACTION WITH EYA1; POSSSIBLE INVOLVEMENT IN BOR;
SIX1 mutation screening in 247 branchio-oto-renal syndrome families: a recurrent missense mutation associated with BOR.
Kochhar A.; Orten D.J.; Sorensen J.L.; Fischer S.M.; Cremers C.W.; Kimberling W.J.; Smith R.J.;
Hum. Mutat. 29:565-565(2008)
Cited for: VARIANTS BOS3 GLU-17; PRO-73; GLY-106; GLN-110; TRP-110; CYS-112 AND CYS-129;
Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutations.
Krug P.; Moriniere V.; Marlin S.; Koubi V.; Gabriel H.D.; Colin E.; Bonneau D.; Salomon R.; Antignac C.; Heidet L.;
Hum. Mutat. 32:183-190(2011)
Cited for: VARIANT BOS3 CYS-129; VARIANT BOR LEU-249;
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