Variant position: 54 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 MSFCLTELHLWSL--KNTLHIA DRDIGIYQYYDKKDPP--ATEHG
Mouse MSFCLTELHLWSL--KSTLHIA DRDIGVYQYYDKKDPSVSA
Rat MSFCLTELHLWSL--KSTLHIA DRDIGVYQYYDKKDLPVSA
Xenopus laevis MSFCLTELYLWSL--KNNLHIG DEDVGVHQYHEKKEAAL-H
Drosophila --MLLSETHFWTTLREDVVRIK SQDLGAFRYLRQRDKEQEQ
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.
Compound heterozygosity for a frame shift mutation and a likely pathogenic sequence variant in the planar cell polarity-ciliogenesis gene WDPCP in a girl with polysyndactyly, coarctation of the aorta, and tongue hamartomas.
Saari J.; Lovell M.A.; Yu H.C.; Bellus G.A.;
Am. J. Med. Genet. A 167:421-427(2015)
Cited for: INVOLVEMENT IN CHDTHP; VARIANT CHDTHP ASN-54;
The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery.
Toriyama M.; Lee C.; Taylor S.P.; Duran I.; Cohn D.H.; Bruel A.L.; Tabler J.M.; Drew K.; Kelly M.R.; Kim S.; Park T.J.; Braun D.A.; Pierquin G.; Biver A.; Wagner K.; Malfroot A.; Panigrahi I.; Franco B.; Al-Lami H.A.; Yeung Y.; Choi Y.J.; Duffourd Y.; Faivre L.; Riviere J.B.; Chen J.; Liu K.J.; Marcotte E.M.; Hildebrandt F.; Thauvin-Robinet C.; Krakow D.; Jackson P.K.; Wallingford J.B.;
Nat. Genet. 48:648-656(2016)
Cited for: VARIANT CHDTHP ASN-54; CHARACTERIZATION OF VARIANT CHDTHP ASN-54;
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.