Home  |  Contact

UniProtKB/Swiss-Prot O14746: Variant p.Arg901Trp

Telomerase reverse transcriptase
Gene: TERT
Variant information

Variant position:  901
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  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:  From Arginine (R) to Tryptophan (W) at position 901 (R901W, p.Arg901Trp).
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:  Change from large size and basic (R) to large size and aromatic (W)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -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:  In DKCB4; severe phenotype overlapping with Hoyeraal-Hreidarsson syndrome; very short telomeres and greatly reduced telomerase activity.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  901
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:   KTFLRTLVRGVPEYGCVVNL  R KTVVNFPVEDEALGGTAFVQ
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                         KTFLRTLVRGVPEYGCVVNLRKTVVNFPVEDEALGGTAFVQ

                              QAFLRTLVKGVPEYGCRANLQKTAVNFPVEDGALGSAAPLQ

Mouse                         KTFLSTLVHGVPEYGCMINLQKTVVNFPVEPGTLGGAAPYQ

Rat                           KAFLSTLVHGVPEYGCMINLQKTVVNFPVETGALGGAAPHQ

Bovine                        RDFLRTLVRGVPEYGCQVNLRKTVVNFPVEPGALGGAAPLQ

Baker's yeast                 INIKKLAMGGFQKYNAKANRDKIL------------AVSSQ

Fission yeast                 KKFLNLSLRGFEKHNFSTSLEKTVINFENSNGIINNTFFNE

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.

TypePositionsDescription
Chain 1 – 1132 Telomerase reverse transcriptase
Domain 605 – 935 Reverse transcriptase
Alternative sequence 808 – 1132 Missing. In isoform 2 and isoform 4.
Alternative sequence 885 – 947 Missing. In isoform 3.


Literature citations

Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome.
Marrone A.; Walne A.; Tamary H.; Masunari Y.; Kirwan M.; Beswick R.; Vulliamy T.; Dokal I.;
Blood 110:4198-4205(2007)
Cited for: VARIANTS DKCB4 CYS-811 AND TRP-901; CHARACTERIZATION OF VARIANTS DKCB4 CYS-811 AND TRP-901;

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.