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UniProtKB/Swiss-Prot P39019: Variant p.Arg101His

40S ribosomal protein S19
Gene: RPS19
Variant information

Variant position:  101
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 Arginine (R) to Histidine (H) at position 101 (R101H, p.Arg101His).
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 large size and basic (R) to medium size and polar (H)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  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:  In DBA1; increased protein degradation; affects assembly into a functional ribosomal subunit.
Any additional useful information about the variant.

Sequence information

Variant position:  101
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  145
The length of the canonical sequence.

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:  
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.

Chain 2 – 145 40S ribosomal protein S19
Modified residue 111 – 111 N6-acetyllysine
Modified residue 115 – 115 N6-acetyllysine
Helix 97 – 106

Literature citations

Missense mutations associated with Diamond-Blackfan anemia affect the assembly of ribosomal protein S19 into the ribosome.
Angelini M.; Cannata S.; Mercaldo V.; Gibello L.; Santoro C.; Dianzani I.; Loreni F.;
Hum. Mol. Genet. 16:1720-1727(2007)

Mutations in ribosomal protein S19 gene and Diamond Blackfan anemia: wide variations in phenotypic expression.
Willig T.-N.D.; Draptchinskaia N.; Dianzani I.; Ball S.; Niemeyer C.; Ramenghi U.; Orfali K.; Gustavsson P.; Garelli E.; Brusco A.; Tiemann C.; Perignon J.L.; Bouchier C.; Cicchiello L.; Dahl N.; Mohandas N.; Tchernia G.;
Blood 94:4294-4306(1999)
Cited for: VARIANTS DBA1 PHE-15; GLN-56; GLU-61; TRP-62; HIS-101 AND ARG-120;

RNA and protein evidence for haplo-insufficiency in Diamond-Blackfan anaemia patients with RPS19 mutations.
Gazda H.T.; Zhong R.; Long L.; Niewiadomska E.; Lipton J.M.; Ploszynska A.; Zaucha J.M.; Vlachos A.; Atsidaftos E.; Viskochil D.H.; Niemeyer C.M.; Meerpohl J.J.; Rokicka-Milewska R.; Pospisilova D.; Wiktor-Jedrzejczak W.; Nathan D.G.; Beggs A.H.; Sieff C.A.;
Br. J. Haematol. 127:105-113(2004)
Cited for: VARIANTS DBA1 ARG-18; GLN-56; 58-ALA--THR-60 DEL; PHE-59; GLN-62; HIS-101 AND ARG-131;

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.