Sequence information
Variant position: 694 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:
GLLGASVLGLDDIHRAWRTF
V LRVRAQDPPPELYFVKVDVT
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 GLLGASVLGLDDIHRAWRTF---V LRVRAQDPPPELYFVKVDVT
SLLGASMLGMDDIHRAWRTF---V LRIRAQNPAPQLYFVKV
Mouse HLMGSSVLGMNDIYRTWRAF---V LRVRALDQTPRMYFVKA
Rat NLMGASVLGTSDSYRIWRTF---V LRVRALDQTPRMYFVKA
Bovine GLLGASVLGMDDIHRAWRAF---V LPLRARGPAPPLYFVKV
Baker's yeast TSF-TKIYSPTQIADRIKEFKQRL LK-KFNNVLPELYFMKF
Fission yeast SGIPFNL----EVYMKLLTFKKDL LKHRMFGR--KKYFVRI
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
Metal binding
712 – 712
Magnesium; catalytic
Modified residue
707 – 707
Phosphotyrosine; by SRC-type Tyr-kinases
Mutagenesis
707 – 707
Y -> F. Abolishes oxidative stress-induced phosphorylation and RAN binding. Impaired nuclear export and enhanced antiapoptotic activity against ROS-dependent apoptosis induction. Impaired interaction with PTPN11. No dephosphorylation by PTPN11.
Mutagenesis
712 – 712
D -> A. Loss of telomerase activity. In the absence of TR, no loss of binding to telomeric primers.
Literature citations
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;
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.