Variant position: 139 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 153 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 GSKRPTCVIMVKPH-----------EEYQEA YDECLEEVQSLPLPL-
Mouse GSKRPTCVIMVKPH-----------EEYQET YDKC
Bovine GSKRPTCVIMVKPH-----------EEYQEA YDEC
Xenopus laevis GSKRPTCVILIKPH-----------EDYQEA YDEC
Xenopus tropicalis GSKRPTCVILIKPH-----------EDYQEA YDEC
Zebrafish GSKRPTCVIMIKPH-----------DEYKEA YDEC
Caenorhabditis elegans GHRRPSILIFVKPS-----------GDFKEL YDEV
Drosophila GVKRGTVALLVRQN-----------EEYKDL YDEV
Baker's yeast ATKRPTSVVFIVPGSNKKKDGKNKEEEYKES FNEV
Fission yeast NTKRPTSCVMIVPGGKKKD--MSKVEEYKES YEEI
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
1 – 153 H/ACA ribonucleoprotein complex subunit 2
Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita.
Vulliamy T.; Beswick R.; Kirwan M.; Marrone A.; Digweed M.; Walne A.; Dokal I.;
Proc. Natl. Acad. Sci. U.S.A. 105:8073-8078(2008)
Cited for: VARIANTS DKCB2 MET-126 AND HIS-139; VARIANT THR-118;
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