Variant position: 478 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 KKLTALEINQITRSRKEGRE RIYHVDDTPSGSMDGVLDYSK
Mouse KKLTALEINQITRSRKEGRE RIYHVDDVPSGSVDGVFDYSK
Rat KKLTALEINQITRSRKEGRE RIYHVDDVPSGSVDGVFDYSK
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
Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia.
Duran I.; Taylor S.P.; Zhang W.; Martin J.; Qureshi F.; Jacques S.M.; Wallerstein R.; Lachman R.S.; Nickerson D.A.; Bamshad M.; Cohn D.H.; Krakow D.;
Cited for: VARIANTS SRTD7 LEU-311; LYS-478 AND 527-GLN--GLY-1181 DEL; CHARACTERIZATION OF VARIANTS SRTD7 LEU-311; LYS-478 AND 527-GLN--GLY-1181 DEL; FUNCTION;
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