Variant position: 36 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 KKERKSLPEEDVAEIQHAEE FLIKPESKVAKLDTSQWPLLL
Mouse KKDRKPLQEDDVAEIQHAEE FLIKPESKVAQLDTSQWPLLL
Rat KKERKPLPEADVAEIQHAED FLIKPESKAAQLDTSQWPLLL
Chicken KKDKRSLPDEDVADIQHTEE FLIKPESRVAQLDTSQWPLLL
Caenorhabditis elegans KDKRSKLEGDDLAEAQQKGS FQLPSSNETAKLDASQWPLLL
Drosophila KIKEEPLDGDDIGTLQKQGN FQIKPSSKIAELDTSQWPLLL
Slime mold KKSKSKSSEKSTQEVEQ--- -VIKPE-KTPILDTSKWPLLL
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
21 – 21 Phosphoserine
20 – 20 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
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)
X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions.
Heiss N.S.; Knight S.W.; Vulliamy T.J.; Klauck S.M.; Wiemann S.; Mason P.J.; Poustka A.; Dokal I.;
Nat. Genet. 19:32-38(1998)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); INVOLVEMENT IN DKCX; VARIANTS DKCX VAL-36; LEU-37 DEL; ARG-40; TYR-72 AND GLU-402;
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.