Variant position: 39 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 RKSLPEEDVAEIQHAEEFLI KPESKVAKLDTSQWPLLLKNF
Mouse RKPLQEDDVAEIQHAEEFLI KPESKVAQLDTSQWPLLLKNF
Rat RKPLPEADVAEIQHAEDFLI KPESKAAQLDTSQWPLLLKNF
Chicken KRSLPDEDVADIQHTEEFLI KPESRVAQLDTSQWPLLLKNF
Caenorhabditis elegans RSKLEGDDLAEAQQKGSFQL PSSNETAKLDASQWPLLLKNY
Drosophila EEPLDGDDIGTLQKQGNFQI KPSSKIAELDTSQWPLLLKNF
Slime mold KSKSSEKSTQEVEQ----VI KPE-KTPILDTSKWPLLLKNY
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 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;
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.