Variant position: 452 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 942 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 DHFFNLFFQRALQPAKL-HSS ASPSAQQYDASSAVLLDNLPG
Mouse DHFFSLFFERALRPGKL-HLS GSPSAQQYAAASAVLLDNLP
Rat DHFFSLFFERALRPGKL-HLS ASPSAQQYDAASAVLLDNLP
Bovine DHFFSLFFQRALQPTKL-HSS ASPSTQQYDASSAVLLDNLP
Xenopus laevis DHFFSLFFQRVLRVFLL-SGI TGYGPQFYDACSSLLVENLP
Xenopus tropicalis DHFFSLFFQRALRVFSL-TGI AGYGSQFYDACSSLLVENLP
Zebrafish DHFFCLFFQQLIQPSRLIHSS RTP-----DLYGSLFLDGLP
Drosophila SSRLKLFLRHFCEIQRTRLVA RCHGHIRFE-------ELLG
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 – 942 Protein inturned
409 – 942 Missing. In isoform 2.
436 – 942 Missing. In isoform 3.
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: INVOLVEMENT IN OFD17; SRTD7/20 AND SRTD20; FUNCTION; INTERACTION WITH CPLANE1; VARIANT THR-452; VARIANTS SRTD20 355-GLU--LEU-942 DEL AND ALA-500; VARIANT SRTD7/20 276-GLN--LEU-942 DEL; CHARACTERIZATION OF VARIANTS SRTD20 355-GLU--LEU-942 DEL AND ALA-500;
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.