Sequence information
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:
VIEQSSSLNEASSGLFDVFL
R FMCHHAVRIRGKSYVQCQGI
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 VIEQSSSLNEASSGLFDVFLR FMCHHAVRIRGKSYVQCQGI
VIEQSSSLNEAGSSLFHLFLR LVHNHVVRIGGKSYIQCQGV
Mouse VIEQSISMNESSSSLFDFFLH FLRHSVVKIGDRCYTQCQGI
Rat VIEQSISMNETGSSLLHFFLR FVRHSVVKIDGRFYVQCQGI
Bovine VIEQSCSLNEPGSSLFNLFLH LVRSHVIRIGGRSYIQCQGI
Baker's yeast YIDNVRTVHLSNQDVINVVEM EIFKTALWVEDKCYIREDGL
Fission yeast FVDFVDYWTKSSSEIFKMLKE HLSGHIVKIGNSQYLQKVGI
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
Chain
1 – 1132
Telomerase reverse transcriptase
Domain
605 – 935
Reverse transcriptase
Alternative sequence
808 – 1132
Missing. In isoform 2 and isoform 4.
Literature citations
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.;
Blood 110:4198-4205(2007)
Cited for: VARIANTS DKCB4 CYS-811 AND TRP-901; CHARACTERIZATION OF VARIANTS DKCB4 CYS-811 AND TRP-901;
Disclaimer:
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.