Variant position: 311 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 PFGEHLGTLKVPGKEISALS WEGGGLKIALAVDSFIYFANI
Mouse PFGEHLGTLKVPGKQMCSLS WEGGGLKIALAVDSFIYFANI
Rat PFGEHLGTLKVPGKQMCSLS WEGGGLKIALAVDSFIYFANI
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
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 SRTD7/20 LEU-311;
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;
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.