UniProtKB/SwissProt variant VAR

Cystinosin
Gene: CTNS
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Variant information Variant position:

339 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

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:

From Glycine (G) to Arginine (R) at position 339 (G339R, p.Gly339Arg). 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:

Change from glycine (G) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-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:

In CTNS; abolished cystine transport. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs121908127 [ dbSNP | Ensembl ]

Sequence information Variant position:

339 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:

QSYNNDQWTLIFGDPTKFGL G VFSIVFDVVFFIQHFCLYRK 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                         QSYNNDQWTLIFGDPTKFGLGVFSIVFDVVFFIQHFCLYR--K

Mouse                         QSYNNDQWTLIFGDPTKFGLGVFTIFFDVVFFIQHFYLYR-

Bovine                        QSYNNDQWTLIFGDPTKFGLGIFSIIFDVVFFIQHFCLYR-

Caenorhabditis elegans        QAVNVNDWSAFYANPVKFGLGFVSIFFDIIFMVQHYVLYPN

Drosophila                    NAHNYDDWVSIFGDPTKFGLGLFSVLFDVFFMLQHYVFYRH

Slime mold                    DVADSGNWNIFTGDPVKLGLSLFSIAFDILFIIQHYILYRN

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
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.
Helix	339 – 355

Literature citations
CTNS mutations in an American-based population of cystinosis patients.
Shotelersuk V.; Larson D.; Anikster Y.; McDowell G.; Lemons R.; Bernardini I.; Guo J.; Thoene J.; Gahl W.A.;
Am. J. Hum. Genet. 63:1352-1362(1998)
Cited for: VARIANTS CTNS ASP-169; ARG-182; ASN-205; ASP-205 DEL; ASN-298; GLY-305; ARG-308 AND ARG-339; VARIANT CTNSJAN 67-ILE--PRO-73 DEL; VARIANT ARG-292; Severity of phenotype in cystinosis varies with mutations in the CTNS gene: predicted effect on the model of cystinosin.
Attard M.; Jean G.; Forestier L.; Cherqui S.; van 't Hoff W.; Broyer M.; Antignac C.; Town M.;
Hum. Mol. Genet. 8:2507-2514(1999)
Cited for: VARIANTS CTNS PHE-139; ASP-205 DEL; SER-270 DEL; TYR-305; ARG-308; PRO-338; ARG-339; 343-ILE--ASP-346 DEL AND ASN-346; VARIANT ILE-42; VARIANT CTNSJAN PRO-CYS-SER-154 INS; Analysis of the CTNS gene in patients of German and Swiss origin with nephropathic cystinosis.
Kiehntopf M.; Schickel J.; Gonne B.; Koch H.G.; Superti-Furga A.; Steinmann B.; Deufel T.; Harms E.;
Hum. Mutat. 20:237-237(2002)
Cited for: VARIANTS CTNS VAL-308 AND ARG-339; 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; 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;

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.

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O60931: Variant p.Gly339Arg