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UniProtKB/Swiss-Prot Q9Y3A5: Variant p.Arg126Thr

Ribosome maturation protein SBDS
Gene: SBDS
Chromosomal location: 7q11
Variant information

Variant position:  126
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 Threonine (T) at position 126 (R126T, p.Arg126Thr).
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 (T)
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

Involvement in disease:  Shwachman-Diamond syndrome 1 (SDS1) [MIM:260400]: A form of Shwachman-Diamond syndrome, a disorder characterized by hematopoietic abnormalities, exocrine pancreatic dysfunction, and skeletal dysplasia. Intermittent or chronic neutropenia is the most common hematological manifestation, followed by anemia and thrombocytopenia. Some patients progress to bone marrow failure, myelodysplastic syndrome and malignant transformation, with acute myelogenous leukemia being the most common. Exocrine pancreatic dysfunction is generally the first presenting symptom in infancy. Short stature and metaphyseal dysplasia are the most frequent skeletal manifestations. SDS1 inheritance is autosomal recessive. {ECO:0000269|PubMed:12496757, ECO:0000269|PubMed:21536732, ECO:0000269|PubMed:24898207}. 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 SDS1; strongly reduced release of EIF6 from pre-60S ribosome subunits.
Any additional useful information about the variant.

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



Sequence information

Variant position:  126
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  250
The length of the canonical sequence.

Location on the sequence:   QMFRDIATIVADKCVNPETK  R PYTVILIERAMKDIHYSVKT
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                         QMFRDIATIVADKCVNPETKRPYTVILIERAMKDIHYSVKT

Mouse                         QMFRDIATIVADKCVNPETKRPYTVILIERAMKDIHYSVKP

Rat                           QMFRDIATIVADKCVNPETKRPYTVILIERAMKDIHYSVKP

Bovine                        QMFRDIATIVADKCVNPETKRPYTVILIERAMKDIHYSVKP

Chicken                       QMFRDIATIVADKCVNPETKRPYTVILIERAMKDIHYSVKP

Xenopus laevis                QMFRDIATIVADKCVNPETKRPYTVNLIERAMKDIHYSVKA

Xenopus tropicalis            QMFRDIATIVADKCVNPETKRPYTVNLIERAMKDIHYSVKA

Caenorhabditis elegans        QSLKEVSQLIASMVVNPETKRPVPPSVIDKALQEMHFSLKP

Slime mold                    QTFKDIATIVAEKCVNTETQRPIPVSIIEKAMKDVHYSIHP

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 – 250 Ribosome maturation protein SBDS


Literature citations

Mutations in SBDS are associated with Shwachman-Diamond syndrome.
Boocock G.R.B.; Morrison J.A.; Popovic M.; Richards N.; Ellis L.; Durie P.R.; Rommens J.M.;
Nat. Genet. 33:97-101(2003)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANTS SDS1 LYS-8; GLY-44; GLU-67; SER-87; THR-126 AND CYS-169; VARIANT THR-212;

Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome.
Finch A.J.; Hilcenko C.; Basse N.; Drynan L.F.; Goyenechea B.; Menne T.F.; Gonzalez Fernandez A.; Simpson P.; D'Santos C.S.; Arends M.J.; Donadieu J.; Bellanne-Chantelot C.; Costanzo M.; Boone C.; McKenzie A.N.; Freund S.M.; Warren A.J.;
Genes Dev. 25:917-929(2011)
Cited for: STRUCTURE BY NMR; FUNCTION; CHARACTERIZATION OF VARIANT SDS1 THR-126; MUTAGENESIS OF LYS-151;

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.