Variant position: 49 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 514 The length of the canonical sequence.
Location on the 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.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human EIQHAEEFLIKPESKVAKLD TSQWPLLLKNFDKLNVRTTHY
Mouse EIQHAEEFLIKPESKVAQLD TSQWPLLLKNFDKLNVRTAHY
Rat EIQHAEDFLIKPESKAAQLD TSQWPLLLKNFDRLNVRTTHY
Chicken DIQHTEEFLIKPESRVAQLD TSQWPLLLKNFDKLNVLTTHY
Caenorhabditis elegans EAQQKGSFQLPSSNETAKLD ASQWPLLLKNYDKLNVRTNHY
Drosophila TLQKQGNFQIKPSSKIAELD TSQWPLLLKNFDKLNIRSNHY
Slime mold EVEQ----VIKPE-KTPILD TSKWPLLLKNYDQLSVRTGHY
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.
Type Positions Description
2 – 514 H/ACA ribonucleoprotein complex subunit DKC1
39 – 39 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
43 – 43 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
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;
Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1.
Knight S.W.; Heiss N.S.; Vulliamy T.J.; Aalfs C.M.; McMahon C.; Richmond P.; Jones A.; Hennekam R.C.M.; Poustka A.; Mason P.J.; Dokal I.;
Br. J. Haematol. 107:335-339(1999)
Cited for: INVOLVEMENT IN HHS; VARIANTS HHS MET-49 AND GLY-121;
Hoyeraal-Hreidarsson syndrome with a DKC1 mutation identified by whole-exome sequencing.
Lim B.C.; Yoo S.K.; Lee S.; Shin J.Y.; Hwang H.; Chae J.H.; Hwang Y.S.; Seo J.S.; Kim J.I.; Kim K.J.;
Cited for: VARIANT HHS MET-49;
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