Variant position: 309 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 367 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 FYYKSTEGWSIGNVLLDFTG GSFSLLQMFLQSYNNDQWTLI
Mouse FYYKSTKGWSIGGVLLDFTG GSFSLLQMFLQSYNNDQWTLI
Bovine FHYKSTEGWSIGNVLLDFTG GSFSLLQMFLQSYNNDQWTLI
Caenorhabditis elegans YTRKSTVGWSIGNIMLDFTG GTLDILQMILQAVNVNDWSAF
Drosophila YRRKSTSGWSIGNILLDFTG GTLSMLQMILNAHNYDDWVSI
Slime mold FKNKSTSGWSVHNVLLDFSG GVLSLLQMFLDVADSGNWNIF
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
23 – 367 Cystinosin
298 – 318 Helical
263 – 328 PQ-loop 2
305 – 305 H(+); protonated following cystine-binding
305 – 305 D -> E. Abolished steady-state transport current.
305 – 305 D -> N. Abolished transient cxurrents. Abolished steady-state transport current.
309 – 309 G -> CS. Gain-of-function mutant that shows higher transport of cystine.
312 – 312 S -> N. Gain-of-function mutant that shows higher transport of cystine.
Two novel CTNS mutations in cystinosis patients in Thailand.
Yeetong P.; Tongkobpetch S.; Kingwatanakul P.; Deekajorndech T.; Bernardini I.M.; Suphapeetiporn K.; Gahl W.A.; Shotelersuk V.;
Cited for: VARIANTS CTNS ASP-309 AND LYS-323;
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