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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q86US8: Variant p.Asn341Thr

Telomerase-binding protein EST1A
Gene: SMG6
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Variant information Variant position: help 341 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help 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: help 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: help 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: help Links to websites of interest for the variant.


Sequence information Variant position: help 341 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1419 The length of the canonical sequence.
Location on the sequence: help 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human                         SERKRHLERNWSGRGEGEQKNSAKEYRGTLRVTFDAEAMNK

Mouse                         SERKKHLERNWSGCGEGEQKSNGKENRSALRVTFDAETMSK

Zebrafish                     QFSARTLERA-TGQREFVRGGQTRSRRRTARTLSSTDSLEE

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 – 1419 Telomerase-binding protein EST1A
Region 114 – 503 Interaction with telomeric DNA
Region 177 – 405 Disordered
Compositional bias 275 – 345 Basic and acidic residues
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;
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.