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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O14746: Variant p.Val791Ile

Telomerase reverse transcriptase
Gene: TERT
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Variant information Variant position: help 791 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Valine (V) to Isoleucine (I) at position 791 (V791I, p.Val791Ile). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and hydrophobic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 3 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In PFBMFT1; associated with Met-867 in cis on the same allele; the double mutant shows severe defects in telomere repeat addition processivity. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 791 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1132 The length of the canonical sequence.
Location on the sequence: help PYMRQFVAHLQETSPLRDAV V IEQSSSLNEASSGLFDVFLR 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         PYMRQFVAHLQET--SPLRDAVVIEQSSSLNEASSGLFDVFLR

                              PYMRQFVERLQET--SLLRDAVVIEQSSSLNEAGSSLFHLF

Mouse                         PYMGQFLKHLQDSDASALRNSVVIEQSISMNESSSSLFDFF

Rat                           PYMGQFTKHLQDSDASALRNSVVIEQSISMNETGSSLLHFF

Bovine                        PYLRQLVEHLQAM--GSLRDAVVIEQSCSLNEPGSSLFNLF

Baker's yeast                 PY------------------ELYIDNVRTVHLSNQDVINVV

Fission yeast                 PFEK--VVQLLSM---KTSDTLFVDFVDYWTKSSSEIFKML
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 1 – 1132 Telomerase reverse transcriptase
Domain 605 – 935 Reverse transcriptase
Alternative sequence 764 – 807 STLTDLQPYMRQFVAHLQETSPLRDAVVIEQSSSLNEASSGLFD -> LRPVPGDPAGLHPLHAALQPVLRRHGEQAVCGDSAGRAAPAFGG. In isoform 2 and isoform 4.
Beta strand 788 – 796



Literature citations
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;
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.