Variant position: 288 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 CFSYIKLAVTLVKYFPQAYM NFYYKSTEGWSIGNVLLDFTG
Mouse CFSYIKLIITLIKYFPQAYM NFYYKSTKGWSIGGVLLDFTG
Bovine CFSYIKLAVTLVKYFPQAYM NFHYKSTEGWSIGNVLLDFTG
Caenorhabditis elegans SLSYIKMAVTCCKYFPQAYF NYTRKSTVGWSIGNIMLDFTG
Drosophila YCSYVKLTITIIKYVPQALM NYRRKSTSGWSIGNILLDFTG
Slime mold YYSYVKLFITFIKYIPQAYL NFKNKSTSGWSVHNVLLDFSG
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.
Identification of 14 novel CTNS mutations and characterization of seven splice site mutations associated with cystinosis.
Kalatzis V.; Cohen-Solal L.; Cordier B.; Frishberg Y.; Kemper M.; Nuutinen E.M.; Legrand E.; Cochat P.; Antignac C.;
Hum. Mutat. 20:439-446(2002)
Cited for: VARIANTS CTNS VAL-110; ARG-222; LYS-288; ASP-346--349-PHE DEL AND ASP-VAL-GLU-PHE-349 INS; VARIANTS CTNSJAN THR-177 AND LEU-200;
Molecular pathogenesis of cystinosis: effect of CTNS mutations on the transport activity and subcellular localization of cystinosin.
Kalatzis V.; Nevo N.; Cherqui S.; Gasnier B.; Antignac C.;
Hum. Mol. Genet. 13:1361-1371(2004)
Cited for: FUNCTION; SUBCELLULAR LOCATION; CHARACTERIZATION OF VARIANTS CTNS VAL-110; PHE-133; PHE-139; PHE-141; PRO-158; ASP-169; SER-177; ARG-182; ASN-205; ASP-205 DEL; ARG-222; SER-270 DEL; LYS-288; ASN-298; TYR-305; ARG-308; PRO-338; ARG-339; 343-ILE--ASP-346 DEL; ASP-346--349-PHE DEL AND ASP-VAL-GLU-PHE-349 INS; CHARACTERIZATION OF VARIANT CTNSJAN 67-ILE--PRO-73 DEL; PRO-CYS-SER-154 INS; LEU-200; ARG-280; LYS-323 AND ASN-346; CHARACTERIZATION OF VARIANT CTNSANN ARG-197; CHARACTERIZATION OF VARIANT ILE-42 AND ILE-260;
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