Sequence information
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:
EIQHAEEFLIKPESKVAKLD
T SQWPLLLKNFDKLNVRTTHY
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 EIQHAEEFLIKPESKVAKLDT SQWPLLLKNFDKLNVRTTHY
Mouse EIQHAEEFLIKPESKVAQLDT SQWPLLLKNFDKLNVRTAHY
Rat EIQHAEDFLIKPESKAAQLDT SQWPLLLKNFDRLNVRTTHY
Chicken DIQHTEEFLIKPESRVAQLDT SQWPLLLKNFDKLNVLTTHY
Caenorhabditis elegans EAQQKGSFQLPSSNETAKLDA SQWPLLLKNYDKLNVRTNHY
Drosophila TLQKQGNFQIKPSSKIAELDT SQWPLLLKNFDKLNIRSNHY
Slime mold EVEQ----VIKPE-KTPILDT SKWPLLLKNYDQLSVRTGHY
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
Chain
2 – 514
H/ACA ribonucleoprotein complex subunit DKC1
Cross
39 – 39
Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
Cross
43 – 43
Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
Literature citations
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.;
Gene 546:425-429(2014)
Cited for: VARIANT HHS MET-49;
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.