Sequence information
Variant position: 704 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:
DDIHRAWRTFVLRVRAQDPP
P ELYFVKVDVTGAYDTIPQDR
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 DDIHRAWRTF---VLRVRAQDPPP ELYFVKVDVTGAYDTIPQDR
DDIHRAWRTF---VLRIRAQNPAP QLYFVKVDVTGAYDALP
Mouse NDIYRTWRAF---VLRVRALDQTP RMYFVKADVTGAYDAIP
Rat SDSYRIWRTF---VLRVRALDQTP RMYFVKADVTGAYDAIP
Bovine DDIHRAWRAF---VLPLRARGPAP PLYFVKVDVVGAYDALP
Baker's yeast TQIADRIKEFKQRLLK-KFNNVLP ELYFMKFDVKSCYDSIP
Fission yeast -EVYMKLLTFKKDLLKHRMFGR-- KKYFVRIDIKSCYDRIK
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
Complex inheritance pattern of dyskeratosis congenita in two families with 2 different mutations in the telomerase reverse transcriptase gene.
Du H.Y.; Pumbo E.; Manley P.; Field J.J.; Bayliss S.J.; Wilson D.B.; Mason P.J.; Bessler M.;
Blood 111:1128-1130(2008)
Cited for: VARIANTS DKCB4 TYR-412 AND SER-704; CHARACTERIZATION OF VARIANTS DKCB4 TYR-412 AND SER-704;
Telomere shortening and loss of self-renewal in dyskeratosis congenita induced pluripotent stem cells.
Batista L.F.; Pech M.F.; Zhong F.L.; Nguyen H.N.; Xie K.T.; Zaug A.J.; Crary S.M.; Choi J.; Sebastiano V.; Cherry A.; Giri N.; Wernig M.; Alter B.P.; Cech T.R.; Savage S.A.; Reijo Pera R.A.; Artandi S.E.;
Nature 474:399-402(2011)
Cited for: VARIANT DKCB4 SER-704; VARIANT DKCA2 TRP-979; CHARACTERIZATION OF VARIANT DKCB4 SER-704; CHARACTERIZATION OF VARIANT DKCA2 TRP-979; CATALYTIC ACTIVITY;
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.