UniProtKB/SwissProt variant VAR

Variant information

Variant position:

570

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 Lysine (K) to Asparagine (N) at position 570 (K570N, p.Lys570Asn).

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 (K) to medium size and polar (N)

The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:

0

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 AA; abolishes telomerase catalytic activity but no effect on binding to TERC.

Any additional useful information about the variant.

Sequence information

Variant position:

570

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:

SVYVVELLRSFFYVTETTFQ K NRLFFYRKSVWSKLQSIGIR

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                         SV-YVVELLRSFFYVTETTFQKNRLFFYRKSVWSKLQSIGIR

                              GHIYVVKLLRSFFYVTETTFQKNRLFFYRKSVWSQLQSIGI

Mouse                         DT-YVVQLLRSFFYITESTFQKNRLFFYRKSVWSKLQSIGV

Rat                           DT-YVVQLLRSFFYITETTFQKNRLFFYRKSVWSKLQSIGI

Bovine                        GA-YVVELLRSFFYVTETTFQKNRLFFFRKRIWSQLQRLGV

Baker's yeast                 RQ-LIPKIIQTFFYCTEISSTVT-IVYFRHDTWNKL----I

Fission yeast                 NS-FIIPILQSFFYITESSDLRNRTVYFRKDIWKLL----C

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

Literature citations

Functional characterization of natural telomerase mutations found in patients with hematologic disorders.
Xin Z.T.; Beauchamp A.D.; Calado R.T.; Bradford J.W.; Regal J.A.; Shenoy A.; Liang Y.; Lansdorp P.M.; Young N.S.; Ly H.;
Blood 109:524-532(2007)
Cited for: VARIANT AA ASN-570; CHARACTERIZATION OF VARIANTS ASN-570; ASP-682; ARG-721; MET-726; ASN-902; TRP-979 AND LEU-1127;

Defining the pathogenic role of telomerase mutations in myelodysplastic syndrome and acute myeloid leukemia.
Kirwan M.; Vulliamy T.; Marrone A.; Walne A.J.; Beswick R.; Hillmen P.; Kelly R.; Stewart A.; Bowen D.; Schonland S.O.; Whittle A.M.; McVerry A.; Gilleece M.; Dokal I.;
Hum. Mutat. 30:1567-1573(2009)
Cited for: VARIANTS ALA-65; MET-299; LYS-522 AND THR-1062; VARIANTS AA THR-202; TYR-412; GLU-441 DEL; ASN-570; GLN-631; MET-694 AND LEU-785;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O14746: Variant p.Lys570Asn