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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9NYL2: Variant p.Ser531Leu

Mitogen-activated protein kinase kinase kinase 20
Gene: MAP3K20
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Variant information Variant position: help 531 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 Serine (S) to Leucine (L) at position 531 (S531L, p.Ser531Leu). 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 small size and polar (S) to medium size and hydrophobic (L) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -2 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 531 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 800 The length of the canonical sequence.
Location on the sequence: help ECTVTYESDVRTPKSTKHVH S IQWSRTKPQDEVKAVQLAIQ 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                         ECTVTYESDVRTPKSTKHVHSIQWSRTKPQDEVKAVQLAIQ

Mouse                         ECTVTYENDVRTPKLTKHVHSIQWDRTKPQDEVKAVQLAIQ

Caenorhabditis elegans        KPINEPACSISSGMTTNP----DWITVDTEDDVK-IRVIVS

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 2 – 800 Mitogen-activated protein kinase kinase kinase 20
Alternative sequence 313 – 800 Missing. In isoform 3.
Alternative sequence 456 – 800 Missing. In isoform ZAKbeta.



Literature citations
Cloning and expression of ZAK, a mixed lineage kinase-like protein containing a leucine-zipper and a sterile-alpha motif.
Liu T.-C.; Huang C.-J.; Chu Y.-C.; Wei C.-C.; Chou C.-C.; Chou M.-Y.; Chou C.-K.; Yang J.-J.;
Biochem. Biophys. Res. Commun. 274:811-816(2000)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM ZAKALPHA); FUNCTION; TISSUE SPECIFICITY; HOMODIMERIZATION; VARIANT LEU-531; Identification and characterization of a novel MAP kinase kinase kinase, MLTK.
Gotoh I.; Adachi M.; Nishida E.;
J. Biol. Chem. 276:4276-4286(2001)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS ZAKALPHA AND ZAKBETA); FUNCTION; PHOSPHORYLATION AT SER-429 (ISOFORM ZAKBETA); VARIANT LEU-531; MRK, a mixed lineage kinase-related molecule that plays a role in gamma-radiation-induced cell cycle arrest.
Gross E.A.; Callow M.G.; Waldbaum L.; Thomas S.; Ruggieri R.;
J. Biol. Chem. 277:13873-13882(2002)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS ZAKALPHA AND ZAKBETA); FUNCTION; TISSUE SPECIFICITY; MUTAGENESIS OF LYS-45; VARIANT LEU-531; Cloning and characterisation of AZK, a mixed lineage kinase containing a sterile-alpha motif.
McNee J.J.; Frima N.; Diamond T.E.; Dower S.K.; Guesdon F.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM ZAKALPHA); VARIANT LEU-531; Patterns of somatic mutation in human cancer genomes.
Greenman C.; Stephens P.; Smith R.; Dalgliesh G.L.; Hunter C.; Bignell G.; Davies H.; Teague J.; Butler A.; Stevens C.; Edkins S.; O'Meara S.; Vastrik I.; Schmidt E.E.; Avis T.; Barthorpe S.; Bhamra G.; Buck G.; Choudhury B.; Clements J.; Cole J.; Dicks E.; Forbes S.; Gray K.; Halliday K.; Harrison R.; Hills K.; Hinton J.; Jenkinson A.; Jones D.; Menzies A.; Mironenko T.; Perry J.; Raine K.; Richardson D.; Shepherd R.; Small A.; Tofts C.; Varian J.; Webb T.; West S.; Widaa S.; Yates A.; Cahill D.P.; Louis D.N.; Goldstraw P.; Nicholson A.G.; Brasseur F.; Looijenga L.; Weber B.L.; Chiew Y.-E.; DeFazio A.; Greaves M.F.; Green A.R.; Campbell P.; Birney E.; Easton D.F.; Chenevix-Trench G.; Tan M.-H.; Khoo S.K.; Teh B.T.; Yuen S.T.; Leung S.Y.; Wooster R.; Futreal P.A.; Stratton M.R.;
Nature 446:153-158(2007)
Cited for: VARIANTS [LARGE SCALE ANALYSIS] MET-267; THR-281; VAL-281; LEU-531; TRP-580; THR-740; HIS-773 AND THR-784;
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.