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UniProtKB/Swiss-Prot O60931: Variant p.Asn177Ser

Cystinosin
Gene: CTNS
Variant information

Variant position:  177
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 Asparagine (N) to Serine (S) at position 177 (N177S, p.Asn177Ser).
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 medium size and polar (N) to small size and polar (S)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  1
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.



Sequence information

Variant position:  177
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:   GLSFDFVALNLTGFVAYSVF  N IGLLWVPYIKEQFLLKYPNG
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                         GLSFDFVALNLTGFVAYSVFNIGLLWVPYIKEQFLLKYPNG

Mouse                         GLSFDFLALNLTGFVAYSVFNIGLLWVPYIQEEFLLKYPNG

Bovine                        GLSFDFVVLNLMGFVAYSVFNIGLFWVPSIKEQFLLKYPNG

Caenorhabditis elegans        GLNFDFLSLNLVGFCAYAIFNLLMYYNSHVKNEYNIVNPRS

Drosophila                    GLNFDFLALNIVGFTLYSMFNCGLYFIEDLQNEYEVRYPLG

Slime mold                    GLSFDFLLFNITGYACYSVFNSVLYFDKLVKNEYYDKY--G

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.

TypePositionsDescription
Chain 23 – 367 Cystinosin
Transmembrane 162 – 182 Helical
Domain 123 – 189 PQ-loop 1
Mutagenesis 161 – 161 D -> N. Strongly reduced steady-state transport current. Slightly decreased midpoint potential.


Literature citations

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;

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.