Variant position: 811 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1132 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 VIEQSSSLNEASSGLFDVFL RFMCHHAVRIRGKSYVQCQGI
Mouse VIEQSISMNESSSSLFDFFL HFLRHSVVKIGDRCYTQCQGI
Rat VIEQSISMNETGSSLLHFFL RFVRHSVVKIDGRFYVQCQGI
Bovine VIEQSCSLNEPGSSLFNLFL HLVRSHVIRIGGRSYIQCQGI
Baker's yeast YIDNVRTVHLSNQDVINVVE MEIFKTALWVEDKCYIREDGL
Fission yeast FVDFVDYWTKSSSEIFKMLK EHLSGHIVKIGNSQYLQKVGI
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 – 1132 Telomerase reverse transcriptase
605 – 935 Reverse transcriptase
808 – 1132 Missing. In isoform 2 and isoform 4.
Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome.
Marrone A.; Walne A.; Tamary H.; Masunari Y.; Kirwan M.; Beswick R.; Vulliamy T.; Dokal I.;
Cited for: VARIANTS DKCB4 CYS-811 AND TRP-901; CHARACTERIZATION OF VARIANTS DKCB4 CYS-811 AND TRP-901;
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