Variant position: 55 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 746 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 SFCLTELHLWSL--KNTLHIAD RDIGIYQYYDKKDPP--ATEHGN
Mouse SFCLTELHLWSL--KSTLHIAD RDIGVYQYYDKKDPSVSAT
Rat SFCLTELHLWSL--KSTLHIAD RDIGVYQYYDKKDLPVSAA
Xenopus laevis SFCLTELYLWSL--KNNLHIGD EDVGVHQYHEKKEAAL-HP
Drosophila -MLLSETHFWTTLREDVVRIKS QDLGAFRYLRQRDKEQEQQ
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 – 746 WD repeat-containing and planar cell polarity effector protein fritz homolog
1 – 166 MRREFCWDAYSKAAGSRASSPLPRQDRDSFCHQMSFCLTELHLWSLKNTLHIADRDIGIYQYYDKKDPPATEHGNLEKKQKLAESRDYPWTLKNRRPEKLRDSLKELEELMQNSRCVLSKWKNKYVCQLLFGSGVLVSLSLSGPQLEKVVIDRSLVGKLISDTISD -> MFSSLHS. In isoform 3.
Planar cell polarity acts through septins to control collective cell movement and ciliogenesis.
Kim S.K.; Shindo A.; Park T.J.; Oh E.C.; Ghosh S.; Gray R.S.; Lewis R.A.; Johnson C.A.; Attie-Bittach T.; Katsanis N.; Wallingford J.B.;
Cited for: INVOLVEMENT IN BBS15; INVOLVEMENT IN MECKEL SYNDROME; VARIANTS LYS-55; PHE-205 AND PHE-708;
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