Variant position: 280 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1462 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 PPEGKAEEVMKVKLSGKTGR RADIALIEGSLLVMAVGEAAL
Mouse TPEGEAEEVMKVKLSGKTGC RADITLIEGSLLVTAIGEPVL
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 – 1462 Intraflagellar transport protein 140 homolog
266 – 305 WD 6
1 – 806 Missing. In isoform 2.
Cauli: a mouse strain with an Ift140 mutation that results in a skeletal ciliopathy modelling Jeune syndrome.
Miller K.A.; Ah-Cann C.J.; Welfare M.F.; Tan T.Y.; Pope K.; Caruana G.; Freckmann M.L.; Savarirayan R.; Bertram J.F.; Dobbie M.S.; Bateman J.F.; Farlie P.G.;
PLoS Genet. 9:E1003746-E1003746(2013)
Cited for: VARIANT SRTD9 TRP-280;
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