Variant position: 726 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 LYFVKVDVTGAYDTIPQDRL TEVIASIIKPQN-TYCVRRYAV
Mouse MYFVKADVTGAYDAIPQGKL VEVVANMIRHSESTYCIRQYA
Rat MYFVKADVTGAYDAIPQDKL VEIVANIIRRSESMYCIRQYA
Bovine LYFVKVDVVGAYDALPQDKL AEVIANVLQPQENTYCVRHCA
Baker's yeast LYFMKFDVKSCYDSIPRMEC MRILKDALKNENGFFVRSQYF
Fission yeast KYFVRIDIKSCYDRIKQDLM FRIVKKKLKDPE--FVIRKYA
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
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.
Mutations in telomerase catalytic protein in Japanese children with aplastic anemia.
Liang J.; Yagasaki H.; Kamachi Y.; Hama A.; Matsumoto K.; Kato K.; Kudo K.; Kojima S.;
Cited for: VARIANTS AA ASP-682 AND MET-726; CHARACTERIZATION OF VARIANT AA MET-726;
Functional characterization of natural telomerase mutations found in patients with hematologic disorders.
Xin Z.T.; Beauchamp A.D.; Calado R.T.; Bradford J.W.; Regal J.A.; Shenoy A.; Liang Y.; Lansdorp P.M.; Young N.S.; Ly H.;
Cited for: VARIANT AA ASN-570; CHARACTERIZATION OF VARIANTS ASN-570; ASP-682; ARG-721; MET-726; ASN-902; TRP-979 AND LEU-1127;
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.