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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q15831: Variant p.Tyr49Asp

Serine/threonine-protein kinase STK11
Gene: STK11
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Variant information Variant position: help 49 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help US 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 Tyrosine (Y) to Aspartate (D) at position 49 (Y49D, p.Tyr49Asp). 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 large size and aromatic (Y) to medium size and acidic (D) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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: help In melanoma; sporadic malignant; somatic mutation. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 49 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 433 The length of the canonical sequence.
Location on the sequence: help IDSTEVIYQPRRKRAKLIGK Y LMGDLLGEGSYGKVKEVLDS 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                         IDSTE---VIYQPRRKRAKLIGKYLMGDLLGEGSYGKVKEVLDS

Mouse                         IDSTE---VIYQPRRKRAKLIGKYLMGDLLGEGSYGKVKEV

Rat                           IDSTE---VIYQPRRKRAKLIGKYLMGDLLGEGSYGKVKEV

Chicken                       IDSTE---VIYQPRRKRAKLIGKYLMGDLLGEGSYGKVKEM

Xenopus laevis                IDSTE---VIYQPRRKRAKLVGKYLMGDLLGEGSYGKVKEM

Slime mold                    LNENEDNGISYRSRKSTPKLVKHYILGEVLGEGAYGKVKDG

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 – 430 Serine/threonine-protein kinase STK11
Domain 49 – 309 Protein kinase
Region 45 – 90 Sufficient for interaction with SIRT1
Modified residue 31 – 31 Phosphoserine
Modified residue 44 – 44 N6-acetyllysine
Modified residue 48 – 48 N6-acetyllysine
Mutagenesis 44 – 44 K -> R. No effect on kinase activity.
Mutagenesis 48 – 48 K -> Q. No effect on basal nucleocytoplasmic localization, but fails to translocate to the cytoplasm when coexpressed with SIRT1.
Mutagenesis 48 – 48 K -> R. Enhanced phosphorylation at Thr-336 and Ser-428, enhanced cytoplasmic localization and increased kinase activity.



Literature citations
Somatic mutations in the Peutz-Jeghers (LKB1/STKII) gene in sporadic malignant melanomas.
Rowan A.; Bataille V.; MacKie R.; Healy E.; Bicknell D.; Bodmer W.; Tomlinson I.;
J. Invest. Dermatol. 112:509-511(1999)
Cited for: VARIANTS MELANOMA ASP-49 AND ARG-135;
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.