Sequence information
Variant position: 9 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 514 The length of the canonical sequence.
Location on the sequence:
MSWPRRLL
L RYLFPALLLHGLGEGSALLH
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 MSWP--RRLLL RYLFPALLLHGLGEGSALLH
Mouse MSRV--RRLLL GYLFPALLLHGLGEGSAL
Chicken MFVP--YGSLM RYLFPALLLHGLGEGSAL
Xenopus laevis MGIPCFYSSLI SCLFSIITLVDVGQSSAL
Xenopus tropicalis -MEP----RLI SCFLPLITFLGVGQSSAL
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
Signal peptide
1 – 26
Literature citations
APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex.
Shimomura Y.; Agalliu D.; Vonica A.; Luria V.; Wajid M.; Baumer A.; Belli S.; Petukhova L.; Schinzel A.; Brivanlou A.H.; Barres B.A.; Christiano A.M.;
Nature 464:1043-1047(2010)
Cited for: VARIANT HYPT1 ARG-9; CHARACTERIZATION OF VARIANT HYPT1 ARG-9; GLYCOSYLATION; FUNCTION; SUBCELLULAR LOCATION; TISSUE SPECIFICITY; SUBUNIT; INTERACTION WITH LRP5 AND WNT3A;
Disclaimer:
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.