Sequence information
Variant position: 1062 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:
LCYSILKAKNAGMSLGAKGA
A GPLPSEAVQWLCHQAFLLKL
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 LCYSILKAKNAGMSLGAKGAA GPLPSEAVQWL-----------------CHQAFLLKL
CCYSLLKARNAGLSLGAKGAS GLFPSEAARWL---------
Mouse CCYAILKVKNPGMTLKA---S GSFPPEAAHWL---------
Rat CCYAILKVKNPGVSLRAKGAP GSFPPEATRWL---------
Bovine RGYALLKARNAGASLGARGAA GLFPSEAAQWL---------
Baker's yeast SGCPITK-------------C DPLIEYEVRFT---------
Fission yeast LGYTSRR-------------- -FLSSAEVKWLFCLGMRDGL
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
Region
936 – 1132
CTE
Alternative sequence
808 – 1132
Missing. In isoform 2 and isoform 4.
Literature citations
Submission
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS TYR-412 AND THR-1062;
Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia.
Yamaguchi H.; Calado R.T.; Ly H.; Kajigaya S.; Baerlocher G.M.; Chanock S.J.; Lansdorp P.M.; Young N.S.;
N. Engl. J. Med. 352:1413-1424(2005)
Cited for: VARIANTS PFBMFT1 THR-202; TYR-412; MET-694; CYS-772 AND MET-1090; VARIANTS THR-279; GLU-441 DEL AND THR-1062;
Defining the pathogenic role of telomerase mutations in myelodysplastic syndrome and acute myeloid leukemia.
Kirwan M.; Vulliamy T.; Marrone A.; Walne A.J.; Beswick R.; Hillmen P.; Kelly R.; Stewart A.; Bowen D.; Schonland S.O.; Whittle A.M.; McVerry A.; Gilleece M.; Dokal I.;
Hum. Mutat. 30:1567-1573(2009)
Cited for: VARIANTS ALA-65; MET-299; LYS-522 AND THR-1062; VARIANTS AA THR-202; TYR-412; GLU-441 DEL; ASN-570; GLN-631; MET-694 AND LEU-785;
Constitutional hypomorphic telomerase mutations in patients with acute myeloid leukemia.
Calado R.T.; Regal J.A.; Hills M.; Yewdell W.T.; Dalmazzo L.F.; Zago M.A.; Lansdorp P.M.; Hogge D.; Chanock S.J.; Estey E.H.; Falcao R.P.; Young N.S.;
Proc. Natl. Acad. Sci. U.S.A. 106:1187-1192(2009)
Cited for: VARIANTS ALA-65; MET-299; TYR-412; GLU-441 DEL; LYS-522 AND THR-1062;
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.