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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P27635: Variant p.His213Gln

Large ribosomal subunit protein uL16
Gene: RPL10
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Variant information Variant position: help 213 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LB/B 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 Histidine (H) to Glutamine (Q) at position 213 (H213Q, p.His213Gln). 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 Risk factor for AUTSX5; no effect on function; rescues embryonic brain development when expressed in a zebrafish heterologous system. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 213 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 214 The length of the canonical sequence.
Location on the sequence: help DGCGVKYIPSRGPLDKWRAL H S 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.
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 2 – 214 Large ribosomal subunit protein uL16



Literature citations
Mutations in the ribosomal protein gene RPL10 suggest a novel modulating disease mechanism for autism.
Klauck S.M.; Felder B.; Kolb-Kokocinski A.; Schuster C.; Chiocchetti A.; Schupp I.; Wellenreuther R.; Schmoetzer G.; Poustka F.; Breitenbach-Koller L.; Poustka A.;
Mol. Psychiatry 11:1073-1084(2006)
Cited for: INVOLVEMENT IN AUTSX5; VARIANTS MET-206 AND GLN-213; Mutation and expression analyses of the ribosomal protein gene RPL10 in an extended German sample of patients with autism spectrum disorder.
Chiocchetti A.; Pakalapati G.; Duketis E.; Wiemann S.; Poustka A.; Poustka F.; Klauck S.M.;
Am. J. Med. Genet. A 155:1472-1475(2011)
Cited for: VARIANT GLN-213; INVOLVEMENT IN AUTSX5; A novel ribosomopathy caused by dysfunction of RPL10 disrupts neurodevelopment and causes X-linked microcephaly in humans.
Brooks S.S.; Wall A.L.; Golzio C.; Reid D.W.; Kondyles A.; Willer J.R.; Botti C.; Nicchitta C.V.; Katsanis N.; Davis E.E.;
Genetics 198:723-733(2014)
Cited for: VARIANT MRXS35 GLU-78; CHARACTERIZATION OF VARIANT MRXS35 GLU-78; INVOLVEMENT IN MRXS35; VARIANT ASN-202; CHARACTERIZATION OF VARIANTS ASN-202; MET-206 AND GLN-213; FUNCTION;
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.