Variant position: 867 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 GDMENKL--FAGIRRDG-LLLRL VDDFLLVTPHLTHAKTFLRTL
Mouse GDMENKL--FAEVQRDG-LLLRF VDDFLLVTPHLDQAKTFL
Rat GDMENKL--FAEVQQDG-LLLRF VDDFLLVTPHLAHAKAFL
Bovine GDMENKL--FPGVQQDG-VLLRL VDDFLLVTPHLTRARDFL
Baker's yeast DDLLEFYSEFKASPSQDTLILKL ADDFLIISTDQQQVINIK
Fission yeast EDLIDEY--LSFTKKKGSVLLRV VDDFLFITVNKKDAKKFL
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
868 – 868 Magnesium; catalytic
869 – 869 Magnesium; catalytic
867 – 867 Required for nucleotide incorporation and primer extension rate
808 – 1132 Missing. In isoform 2 and isoform 4.
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.
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.
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.
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.
868 – 868 D -> A. Loss of telomerase activity.
869 – 869 D -> A. Loss of telomerase activity.
Ancestral mutation in telomerase causes defects in repeat addition processivity and manifests as familial pulmonary fibrosis.
Alder J.K.; Cogan J.D.; Brown A.F.; Anderson C.J.; Lawson W.E.; Lansdorp P.M.; Phillips J.A. III; Loyd J.E.; Chen J.J.; Armanios M.;
PLoS Genet. 7:E1001352-E1001352(2011)
Cited for: VARIANTS PFBMFT1 ILE-791 AND MET-867; CHARACTERIZATION OF VARIANTS PFBMFT1 ILE-791 AND MET-867;
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.