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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O60931: Variant p.Leu338Arg

Cystinosin
Gene: CTNS
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Variant information Variant position: help 338 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Leucine (L) to Arginine (R) at position 338 (L338R, p.Leu338Arg). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from medium size and hydrophobic (L) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -2 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In CTNS. Any additional useful information about the variant.


Sequence information Variant position: help 338 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 367 The length of the canonical sequence.
Location on the sequence: help LQSYNNDQWTLIFGDPTKFG L GVFSIVFDVVFFIQHFCLYR 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         LQSYNNDQWTLIFGDPTKFGLGVFSIVFDVVFFIQHFCLYR--

Mouse                         LQSYNNDQWTLIFGDPTKFGLGVFTIFFDVVFFIQHFYLYR

Bovine                        LQSYNNDQWTLIFGDPTKFGLGIFSIIFDVVFFIQHFCLYR

Caenorhabditis elegans        LQAVNVNDWSAFYANPVKFGLGFVSIFFDIIFMVQHYVLYP

Drosophila                    LNAHNYDDWVSIFGDPTKFGLGLFSVLFDVFFMLQHYVFYR

Slime mold                    LDVADSGNWNIFTGDPVKLGLSLFSIAFDILFIIQHYILYR
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 23 – 367 Cystinosin
Transmembrane 332 – 354 Helical
Binding site 346 – 346
Mutagenesis 319 – 319 Q -> A. Strongly decreased cystine transport.
Mutagenesis 335 – 335 K -> A. Nearly abolished cystine transport.
Mutagenesis 335 – 335 K -> Q. Abolished steady-state transport current. Decreased midpoint potential. Impaired dielectric distance. Accelerated the time course.
Mutagenesis 346 – 346 D -> N. Abolished pH-dependent conformational shift.
Turn 333 – 338



Literature citations
Characterization of CTNS mutations in Arab patients with cystinosis.
Aldahmesh M.A.; Humeidan A.; Almojalli H.A.; Khan A.O.; Rajab M.; Al-Abbad A.A.; Meyer B.F.; Alkuraya F.S.;
Ophthalmic Genet. 30:185-189(2009)
Cited for: VARIANTS CTNS SER-177 AND ARG-338;
Disclaimer: 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.