Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O14746: Variant p.Pro704Ser

Telomerase reverse transcriptase
Gene: TERT
Feedback?
Variant information Variant position: help 704 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 Proline (P) to Serine (S) at position 704 (P704S, p.Pro704Ser). 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 Change from medium size and hydrophobic (P) to small size and polar (S) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -1 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 DKCB4; the mutant protein has 13% residual activity. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 704 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 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         D---DIHRAWRTF---VLRVRAQDPPPELYFVKVDVTGAYDTIPQDR

                              D---DIHRAWRTF---VLRIRAQNPAPQLYFVKVDVTGAYD

Mouse                         N---DIYRTWRAF---VLRVRALDQTPRMYFVKADVTGAYD

Rat                           S---DSYRIWRTF---VLRVRALDQTPRMYFVKADVTGAYD

Bovine                        D---DIHRAWRAF---VLPLRARGPAPPLYFVKVDVVGAYD

Baker's yeast                 T---QIADRIKEFKQRLLK-KFNNVLPELYFMKFDVKSCYD

Fission yeast                 PFNLEVYMKLLTFKKDLLKHRMFGR--KKYFVRIDIKSCYD
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
Binding site 712 – 712
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.