Variant position: 716 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 RVRAQDPPPELYFVKVDVTG AYDTIPQDRLTEVIASIIKPQ
Mouse RVRALDQTPRMYFVKADVTG AYDAIPQGKLVEVVANMIRHS
Rat RVRALDQTPRMYFVKADVTG AYDAIPQDKLVEIVANIIRRS
Bovine PLRARGPAPPLYFVKVDVVG AYDALPQDKLAEVIANVLQPQ
Baker's yeast K-KFNNVLPELYFMKFDVKS CYDSIPRMECMRILKDALKNE
Fission yeast KHRMFGR--KKYFVRIDIKS CYDRIKQDLMFRIVKKKLKDP
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
712 – 712 Magnesium; catalytic
707 – 707 Phosphotyrosine; by SRC-type Tyr-kinases
711 – 722 Missing. In isoform 4.
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.
712 – 712 D -> A. Loss of telomerase activity. In the absence of TR, no loss of binding to telomeric primers.
Syndrome complex of bone marrow failure and pulmonary fibrosis predicts germline defects in telomerase.
Parry E.M.; Alder J.K.; Qi X.; Chen J.J.; Armanios M.;
Cited for: VARIANTS PFBMFT1 MET-170; THR-716; PHE-841; ARG-902 AND PHE-1025; CHARACTERIZATION OF VARIANTS PFBMFT1 MET-170; THR-716; PHE-841 AND PHE-1025;
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