Variant position: 281 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 644 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 SVTFTKCLYAQLVQQRFVPD RRSGYRLPPP-SDPQ-YRAHELG
Mouse SVTFTKCLYAQLVQQKFVPD RRSGYGLPPP-SHPQ-YRAYE
Drosophila NVRFTRCLYAMLSHQQYLPE KRLGWHLTDPVSEPERYKEQL
Slime mold NIRFTRCLYAMLKLQQWNSP KNFHPQLPKP-SHPT-YDSRS
Fission yeast TITFTPLLYAQLYQQRCKTF RPF--HLPSD-VHSLDYERAI
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 – 644 Protein ecdysoneless homolog
262 – 304 Missing. In isoform 2.
Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23.
Bork J.M.; Peters L.M.; Riazuddin S.; Bernstein S.L.; Ahmed Z.M.; Ness S.L.; Polomeno R.; Ramesh A.; Schloss M.; Srisailpathy C.R.S.; Wayne S.; Bellman S.; Desmukh D.; Ahmed Z.; Khan S.N.; Kaloustian V.M.D.; Li X.C.; Lalwani A.; Riazuddin S.; Bitner-Glindzicz M.; Nance W.E.; Liu X.-Z.; Wistow G.; Smith R.J.H.; Griffith A.J.; Wilcox E.R.; Friedman T.B.; Morell R.J.;
Am. J. Hum. Genet. 68:26-37(2001)
Cited for: VARIANT GLY-281;
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