Variant position: 711 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 974 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 ADKKAPGSERAAERAAAAQQ NSERAHLAPRSSYVNMQAFDY
Mouse ADKKAPGSERAAERAAAAQQ KSERARLASQPTYVHMQAFDY
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 – 974 Protein bicaudal C homolog 1
Two mutations in human BICC1 resulting in Wnt pathway hyperactivity associated with cystic renal dysplasia.
Kraus M.R.; Clauin S.; Pfister Y.; Di Maio M.; Ulinski T.; Constam D.; Bellanne-Chantelot C.; Grapin-Botton A.;
Hum. Mutat. 33:86-90(2012)
Cited for: FUNCTION AS NEGATIVE REGULATOR OF WNT SIGNALING; VARIANT CYSRD GLY-932; VARIANT THR-711; CHARACTERIZATION OF VARIANT CYSRD GLY-932;
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