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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O60931: Variant p.Asn177Thr

Cystinosin
Gene: CTNS
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Variant information Variant position: help 177 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 Asparagine (N) to Threonine (T) at position 177 (N177T, p.Asn177Thr). 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 Similar physico-chemical property. Both residues are medium size and polar. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 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 CTNSJAN. Any additional useful information about the variant.


Sequence information Variant position: help 177 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 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: help 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: 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 160 – 179 Helical
Domain 123 – 189 PQ-loop 1
Binding site 166 – 166
Mutagenesis 161 – 161 D -> N. Strongly reduced steady-state transport current. Slightly decreased midpoint potential.
Mutagenesis 166 – 166 N -> A. Abolished cystine transport.
Mutagenesis 170 – 170 F -> A. Strongly decreased cystine transport.
Helix 160 – 181



Literature citations
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; 346-ASP--PHE-349 DEL AND ASP-VAL-GLU-PHE-349 INS; VARIANTS CTNSJAN THR-177 AND LEU-200;
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.