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UniProtKB/Swiss-Prot P62266: Variant p.Arg67Lys

40S ribosomal protein S23
Gene: RPS23
Chromosomal location: 5q14.1
Variant information

Variant position:  67
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Arginine (R) to Lysine (K) at position 67 (R67K, p.Arg67Lys).
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:  Similar physico-chemical property. Both residues are large size and basic.
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

Involvement in disease:  Brachycephaly, trichomegaly, and developmental delay (BTDD) [MIM:617412]: An autosomal dominant developmental disorder characterized by brachycephaly, ciliary trichomegaly, dysmorphic features of the face and hands, hearing loss, and developmental delay with short stature. Intellectual disability and autism spectrum disorder may be present in some patients. {ECO:0000269|PubMed:28257692}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In BTDD; decreases hydroxylation of the protein; decreases the accuracy of translation; decreases levels of incorporation of the mutant protein into ribosomes and polysomes; patient cells become highly sensitive to oxidative stress.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  67
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  143
The length of the canonical sequence.

Location on the sequence:   AKGIVLEKVGVEAKQPNSAI  R KCVRVQLIKNGKKITAFVPN
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                         AKGIVLEKVGVEAKQPNSAIRKCVRVQLIKNGKKITAFVPN

Mouse                         AKGIVLEKVGVEAKQPNSAIRKCVRVQLIKNGKKITAFVPN

Rat                           AKGIVLEKVGVEAKQPNSAIRKCVRVQLIKNGKKITAFVPN

Pig                           AKGIVLEKVGVEAKQPNSAIRKCVRVQLIKNGKKITAFVPN

Bovine                        AKGIVLEKVGVEAKQPNSAIRKCVRVQLIKNGKKITAFVPN

Caenorhabditis elegans        AKGIVLEKIGVEAKQPNSAIRKCVRVQLIKNGKKITAFVPN

Drosophila                    AKGIVLEKVGVEAKQPNSAIRKCVRVQLIKNGKKITAFVPR

Slime mold                    ASGIVVSRLGIEAKQPNSAIRKCVRVQLKKNGKKITAFVPN

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 2 – 143 40S ribosomal protein S23
Modified residue 54 – 54 N6-succinyllysine
Modified residue 62 – 62 3-hydroxyproline


Literature citations

A ribosomopathy reveals decoding defective ribosomes driving human dysmorphism.
Paolini N.A.; Attwood M.; Sondalle S.B.; Vieira C.M.; van Adrichem A.M.; di Summa F.M.; O'Donohue M.F.; Gleizes P.E.; Rachuri S.; Briggs J.W.; Fischer R.; Ratcliffe P.J.; Wlodarski M.W.; Houtkooper R.H.; von Lindern M.; Kuijpers T.W.; Dinman J.D.; Baserga S.J.; Cockman M.E.; MacInnes A.W.;
Am. J. Hum. Genet. 100:506-522(2017)
Cited for: FUNCTION; HYDROXYLATION AT PRO-62; INVOLVEMENT IN BTDD; VARIANTS BTDD LYS-67 AND ILE-120; CHARACTERIZATION OF VARIANTS BTDD LYS-67 AND ILE-120;

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.