Variant position: 409 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 KKLMIKQGLLDKHGKPTDST PATWKQEYVDYS-----------------ESAKKEVVA
Mouse KKMMIKQGLLDKHGKPTDNT PATWKQDYIDYS---------
Rat KKQLIKQGLLDKHGRPTDGT PASWTRDYVDYS---------
Chicken KKMMIQKGLLDKHGKPNECT PDSWKKEYVDY----------
Caenorhabditis elegans KKQMVKDGLLDKFGKPNDTT PKSWAKEYV------------
Drosophila KKALIAAGKLDKFGRPNENT PKEWLTGYVDYN---------
Slime mold KKEMIKDGKLDKFGKPNEKT PSDWTNTYTYYTGQVATTTTT
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
394 – 394 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
413 – 413 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1); alternate
413 – 413 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternate
424 – 424 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
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;
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