Variant position: 261 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1181 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 HENDQNPVLIDTGMYVVGIQ WNHMGSVLAVAGFQKAAMQDK
Mouse HENDQNPVLIDTGMYVVGIQ WNHIGSVLAVAGSQKVVTQDK
Rat HENDQNPVLIDTGMYVVGIQ WNHIGSVLAVAGSQKVVTQDK
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 – 1181 WD repeat-containing protein 35
246 – 288 WD 6
Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis.
Mill P.; Lockhart P.J.; Fitzpatrick E.; Mountford H.S.; Hall E.A.; Reijns M.A.; Keighren M.; Bahlo M.; Bromhead C.J.; Budd P.; Aftimos S.; Delatycki M.B.; Savarirayan R.; Jackson I.J.; Amor D.J.;
Am. J. Hum. Genet. 88:508-515(2011)
Cited for: FUNCTION; VARIANT SRTD7 ARG-261;
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