UniProtKB/SwissProt variant VAR

Variant information

Variant position:

341

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

Type of variant:

LB/B

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 Asparagine (N) to Threonine (T) at position 341 (N341T, p.Asn341Thr).

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:

Similar physico-chemical property. Both residues are medium size and polar.

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

Other resources:

Links to websites of interest for the variant.

Variant rs1885987 [ dbSNP | Ensembl ]

Sequence information

Variant position:

341

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

Protein sequence length:

1419

The length of the canonical sequence.

Location on the sequence:

SERKRHLERNWSGRGEGEQK N SAKEYRGTLRVTFDAEAMNK

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                         SERKRHLERNWSGRGEGEQKNSAKEYRGTLRVTFDAEAMNK

Mouse                         SERKKHLERNWSGCGEGEQKSNGKENRSALRVTFDAETMSK

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 – 1419	Telomerase-binding protein EST1A
Region	114 – 503	Interaction with telomeric DNA
Modified residue	332 – 332	Phosphoserine
Alternative sequence	1 – 1089	Missing. In isoform 2.
Alternative sequence	1 – 908	Missing. In isoform 3.

Literature citations

A human homolog of yeast est1 associates with telomerase and uncaps chromosome ends when overexpressed.
Reichenbach P.; Hoess M.; Azzalin C.M.; Nabholz M.; Bucher P.; Lingner J.;
Curr. Biol. 13:568-574(2003)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT THR-341; FUNCTION IN TELOMERE REGULATION; TISSUE SPECIFICITY; SUBCELLULAR LOCATION; IDENTIFICATION IN THE TELOMERASE RIBONUCLEOPROTEIN COMPLEX;

Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.
Nagase T.; Ishikawa K.; Suyama M.; Kikuno R.; Miyajima N.; Tanaka A.; Kotani H.; Nomura N.; Ohara O.;
DNA Res. 5:277-286(1998)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1); VARIANTS PRO-291 AND THR-341;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q86US8: Variant p.Asn341Thr