Variant position: 287 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 FCFSYIKLAVTLVKYFPQAY MNFYYKSTEGWSIGNVLLDFT
Mouse FCFSYIKLIITLIKYFPQAY MNFYYKSTKGWSIGGVLLDFT
Bovine FCFSYIKLAVTLVKYFPQAY MNFHYKSTEGWSIGNVLLDFT
Caenorhabditis elegans TSLSYIKMAVTCCKYFPQAY FNYTRKSTVGWSIGNIMLDFT
Drosophila YYCSYVKLTITIIKYVPQAL MNYRRKSTSGWSIGNILLDFT
Slime mold NYYSYVKLFITFIKYIPQAY LNFKNKSTSGWSVHNVLLDFS
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
283 – 297 Cytoplasmic
263 – 328 PQ-loop 2
305 – 305 H(+); protonated following cystine-binding
270 – 270 S -> T. Gain-of-function mutant that shows higher transport of cystine.
274 – 274 L -> F. Gain-of-function mutant that shows higher transport of cystine.
280 – 288 Missing. In delta(A) mutant; abolished localization to the lysosome; when associated with deletion of 362-G--L-366.
281 – 281 Y -> F. Decreased midpoint potential. Accelerated the time course.
286 – 289 YMNF -> AAAA. In mu(b) mutant; does not abolish localization to the lysosome; when associated with deletion of 362-G--L-366.
305 – 305 D -> E. Abolished steady-state transport current.
305 – 305 D -> N. Abolished transient cxurrents. Abolished steady-state transport current.
Mutational spectrum of the CTNS gene in Italy.
Mason S.; Pepe G.; Dall'Amico R.; Tartaglia S.; Casciani S.; Greco M.; Bencivenga P.; Murer L.; Rizzoni G.; Tenconi R.; Clementi M.;
Eur. J. Hum. Genet. 11:503-508(2003)
Cited for: VARIANTS CTNS ILE-287; ARG-308; ARG-337 AND ARG-339; VARIANT ILE-260;
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.