Variant position: 350 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 NQEIVVITTKGEAICMAIAL MTTAVISTCDHGIVAKIKRVI
Mouse NQEIVVITTKGEAICMAIAL MTTAVISTCDHGIVAKIKRVI
Rat NQEVVVITTKGEAVCVAIAL MTTAVISTCDHGVVAKIKRVI
Chicken KQEIVVITTKGEAICLAIAL MTTAVISTCDHGVVAKIKRVI
Caenorhabditis elegans GKEIVIMSTKGEAICIAIAQ MNTSTIASVDHGVVAKSKRVI
Drosophila DQEIVICTTKGEAICLAIAL MTTATMASCDHGVVAKIKRVI
Slime mold NEEVVLITTKGEAIAIGIAQ MTTASMATCDHGVVATIKRVI
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
296 – 371 PUA
353 – 353 A -> R. Increases interaction with SHQ1.
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;
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.