Sequence information
Variant position: 865 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:
CYGDMENKLFAGIRRDGLLL
R LVDDFLLVTPHLTHAKTFLR
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 CYGDMENKL--FAGIRRDG-LLLR LVDDFLLVTPHLTHAKTFLR
CYGDMERRL--FPGIEQDG-VLLR LVDDFLLVTPHLTQAQA
Mouse CFGDMENKL--FAEVQRDG-LLLR FVDDFLLVTPHLDQAKT
Rat CFGDMENKL--FAEVQQDG-LLLR FVDDFLLVTPHLAHAKA
Bovine CYGDMENKL--FPGVQQDG-VLLR LVDDFLLVTPHLTRARD
Baker's yeast VYDDLLEFYSEFKASPSQDTLILK LADDFLIISTDQQQVIN
Fission yeast YMEDLIDEY--LSFTKKKGSVLLR VVDDFLFITVNKKDAKK
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
868 – 868
Magnesium; catalytic
Metal binding
869 – 869
Magnesium; catalytic
Site
867 – 867
Required for nucleotide incorporation and primer extension rate
Alternative sequence
808 – 1132
Missing. In isoform 2 and isoform 4.
Mutagenesis
866 – 866
L -> Y. Moderate reduction in telomerase activity, no change in repeat extension rate nor on nucleotide incorporation fidelity. Little further reduction in activity but 13.5-fold increase in nucleotide incorporation fidelity; when associated with M-867.
Mutagenesis
867 – 867
V -> A. About 75% reduction in telomerase activity, about 80% reduction in repeat reduction rate and 3.9-fold increase in nucleotide incorporation fidelity.
Mutagenesis
867 – 867
V -> M. About 75% reduction in telomerase activity, about 50% reduction in repeat extension rate and 5.2-fold increase in nucleotide incorporation fidelity. Little further reduction in activity and 13.5-fold increase in nucleotide incorporation fidelity; when associated with Y-866.
Mutagenesis
867 – 867
V -> T. Severe reduction in telomerase activity, about 50% reduction in repeat extension rate and 2.2-fold increase in nucleotide incorporation fidelity. No further reduction in activity but 2.8-fold increase in nucleotide incorporation fidelity; when associated with Y-866.
Mutagenesis
868 – 868
D -> A. Loss of telomerase activity.
Mutagenesis
869 – 869
D -> A. Loss of telomerase activity.
Literature citations
Adult-onset pulmonary fibrosis caused by mutations in telomerase.
Tsakiri K.D.; Cronkhite J.T.; Kuan P.J.; Xing C.; Raghu G.; Weissler J.C.; Rosenblatt R.L.; Shay J.W.; Garcia C.K.;
Proc. Natl. Acad. Sci. U.S.A. 104:7552-7557(2007)
Cited for: VARIANT PFBMFT1 HIS-865;
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.