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UniProtKB/Swiss-Prot P62854: Variant p.Asp33Asn

40S ribosomal protein S26
Gene: RPS26
Variant information

Variant position:  33
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 Aspartate (D) to Asparagine (N) at position 33 (D33N, p.Asp33Asn).
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 acidic (D) to medium size and polar (N)
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 DBA10.
Any additional useful information about the variant.

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



Sequence information

Variant position:  33
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  115
The length of the canonical sequence.

Location on the sequence:   KGRGHVQPIRCTNCARCVPK  D KAIKKFVIRNIVEAAAVRDI
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                         KGRGHVQPIRCTNCARCVPKDKAIKKFVIRNIVEAAAVRDI

Mouse                         KGRGHVQPIRCTNCARCVPKDKAIKKFVIRNIVEAAAVRDI

Rat                           KGRGHVQPIRCTNCARCVPKDKAIKKFVIRNIVEAAAVRDI

Pig                           KGRGHVQPIRCTNCARCVPKDKAIKKFVIRNIVEAAAVRDI

Bovine                        KGRGHVQPIRCTNCARCVPKDKAIKKFVIRNIVEAAAVRDI

Sheep                         KGRGHVQPIRCTNCARCVPKDKAIKKFVIRNIVEAAAVRDI

Caenorhabditis elegans        KNRGHVAFIRCTNCGRCCPKDKAIKKFVVRNIVEAAAVRDI

Drosophila                    HNRGHVKPVRCTNCARCVPKDKAIKKFVIRNIVEAAAVRDI

Slime mold                    HGRGSVPYIRCTNCARCVPKDKAVKRFYIRPIVENAAVKDI

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 – 115 40S ribosomal protein S26
Turn 32 – 34


Literature citations

Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia.
Doherty L.; Sheen M.R.; Vlachos A.; Choesmel V.; O'Donohue M.F.; Clinton C.; Schneider H.E.; Sieff C.A.; Newburger P.E.; Ball S.E.; Niewiadomska E.; Matysiak M.; Glader B.; Arceci R.J.; Farrar J.E.; Atsidaftos E.; Lipton J.M.; Gleizes P.E.; Gazda H.T.;
Am. J. Hum. Genet. 86:222-228(2010)
Cited for: INVOLVEMENT IN DBA10; VARIANTS DBA10 ASN-33 AND THR-115;

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.