Variant position: 173 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 KSVIGLSFDFVALNLTGFVA YSVFNIGLLWVPYIKEQFLLK
Mouse KSVIGLSFDFLALNLTGFVA YSVFNIGLLWVPYIQEEFLLK
Bovine KSVVGLSFDFVVLNLMGFVA YSVFNIGLFWVPSIKEQFLLK
Caenorhabditis elegans KSVVGLNFDFLSLNLVGFCA YAIFNLLMYYNSHVKNEYNIV
Drosophila KSVEGLNFDFLALNIVGFTL YSMFNCGLYFIEDLQNEYEVR
Slime mold KNVIGLSFDFLLFNITGYAC YSVFNSVLYFDKLVKNEYYDK
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
162 – 182 Helical
123 – 189 PQ-loop 1
161 – 161 D -> N. Strongly reduced steady-state transport current. Slightly decreased midpoint potential.
Genetic basis of cystinosis in Turkish patients: a single-center experience.
Topaloglu R.; Vilboux T.; Coskun T.; Ozaltin F.; Tinloy B.; Gunay-Aygun M.; Bakkaloglu A.; Besbas N.; van den Heuvel L.; Kleta R.; Gahl W.A.;
Pediatr. Nephrol. 27:115-121(2012)
Cited for: VARIANTS CTNS GLY-151; ASP-157 AND CYS-173;
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.