Variant position: 322 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 KDSAVNAICYGAKIMLPGVL RYEDGIEVNQEIVVITTKGEA
Mouse KDSAVNAICYGAKIMLPGLL RYEDGIEVNQEIVVITTKGEA
Rat KDSAVNAICYGAKIMLPGLL RYEDGIEVNQEVVVITTKGEA
Chicken KDSAVNAICYGAKIMLPGVL RYEDGIELKQEIVVITTKGEA
Caenorhabditis elegans KDSCINAICYGAKILIPGIL RYDDDIEVGKEIVIMSTKGEA
Drosophila KDSSVNAVCYGAKITLPGVL RYEDGIEIDQEIVICTTKGEA
Slime mold KDSAINAICYGAKLMIPGLL RYEQDIESNEEVVLITTKGEA
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
Novel mutations of the DKC1 gene in individuals affected with dyskeratosis congenita.
Rostamiani K.; Klauck S.M.; Heiss N.; Poustka A.; Khaleghi M.; Rosales R.; Metzenberg A.B.;
Blood Cells Mol. Dis. 44:88-88(2010)
Cited for: VARIANTS DKCX PHE-317 AND GLN-322;
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