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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O60832: Variant p.Ala353Val

H/ACA ribonucleoprotein complex subunit DKC1
Gene: DKC1
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Variant information Variant position: help 353 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Alanine (A) to Valine (V) at position 353 (A353V, p.Ala353Val). 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 Change from small size and hydrophobic (A) to medium size and hydrophobic (V) 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 In DKCX and HHS; increases interaction with SHQ1. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 353 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 514 The length of the canonical sequence.
Location on the sequence: help IVVITTKGEAICMAIALMTT A VISTCDHGIVAKIKRVIMER 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         IVVITTKGEAICMAIALMTTAVISTCDHGIVAKIKRVIMER

Mouse                         IVVITTKGEAICMAIALMTTAVISTCDHGIVAKIKRVIMER

Rat                           VVVITTKGEAVCVAIALMTTAVISTCDHGVVAKIKRVIMER

Chicken                       IVVITTKGEAICLAIALMTTAVISTCDHGVVAKIKRVIMER

Caenorhabditis elegans        IVIMSTKGEAICIAIAQMNTSTIASVDHGVVAKSKRVIMER

Drosophila                    IVICTTKGEAICLAIALMTTATMASCDHGVVAKIKRVIMER

Slime mold                    VVLITTKGEAIAIGIAQMTTASMATCDHGVVATIKRVIMDR
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 – 514 H/ACA ribonucleoprotein complex subunit DKC1
Domain 296 – 371 PUA
Mutagenesis 353 – 353 A -> R. Increases interaction with SHQ1.
Turn 352 – 357



Literature citations
X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene.
Knight S.W.; Heiss N.S.; Vulliamy T.J.; Greschner S.; Stavrides G.; Pai G.S.; Lestringant G.; Varma N.; Mason P.J.; Dokal I.; Poustka A.;
Am. J. Hum. Genet. 65:50-58(1999)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANTS DKCX VAL-2; GLU-39; LYS-41; THR-65; ALA-66; VAL-321; ILE-350; THR-350; VAL-353 AND ARG-402; Pathogenic NAP57 mutations decrease ribonucleoprotein assembly in dyskeratosis congenita.
Grozdanov P.N.; Fernandez-Fuentes N.; Fiser A.; Meier U.T.;
Hum. Mol. Genet. 18:4546-4551(2009)
Cited for: INTERACTION WITH SHQ1; CHARACTERIZATION OF VARIANTS DKCX ALA-66; ILE-350; THR-350 AND VAL-353; CHARACTERIZATION OF VARIANTS HHS MET-49 AND GLY-121; MUTAGENESIS OF ALA-353; Identification of a novel mutation and a de novo mutation in DKC1 in two Chinese pedigrees with Dyskeratosis congenita.
Ding Y.G.; Zhu T.S.; Jiang W.; Yang Y.; Bu D.F.; Tu P.; Zhu X.J.; Wang B.X.;
J. Invest. Dermatol. 123:470-473(2004)
Cited for: VARIANTS DKCX VAL-353 AND LEU-409;
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.