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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9Y6K1: Variant p.Met548Lys

DNA (cytosine-5)-methyltransferase 3A
Gene: DNMT3A
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Variant information Variant position: help 548 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Methionine (M) to Lysine (K) at position 548 (M548K, p.Met548Lys). 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 medium size and hydrophobic (M) to large size and basic (K) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -1 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 TBRS; 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 548 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 912 The length of the canonical sequence.
Location on the sequence: help YDDDGYQSYCTICCGGREVL M CGNNNCCRCFCVECVDLLVG 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                         YDDDGYQSYCTICCGGREVLMCGNNNCCRCFCVECVDLLVG

Mouse                         YDDDGYQSYCTICCGGREVLMCGNNNCCRCFCVECVDLLVG

Rat                           YDDDGYQSYCTICCGGREVLMCGNNNCCRCFCVECVDLLVG

Chicken                       YDDDGYQSYCTICCGGREVLMCGNNNCCRCFCVECVDLLVG
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 – 912 DNA (cytosine-5)-methyltransferase 3A
Domain 482 – 614 ADD
Zinc finger 534 – 590 PHD-type; atypical
Region 494 – 586 Interaction with the PRC2/EED-EZH2 complex
Alternative sequence 167 – 912 Missing. In isoform 3.
Beta strand 544 – 548



Literature citations
Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability.
Tatton-Brown K.; Seal S.; Ruark E.; Harmer J.; Ramsay E.; Del Vecchio Duarte S.; Zachariou A.; Hanks S.; O'Brien E.; Aksglaede L.; Baralle D.; Dabir T.; Gener B.; Goudie D.; Homfray T.; Kumar A.; Pilz D.T.; Selicorni A.; Temple I.K.; Van Maldergem L.; Yachelevich N.; van Montfort R.; Rahman N.;
Nat. Genet. 46:385-388(2014)
Cited for: INVOLVEMENT IN TBRS; VARIANTS TBRS ASN-310; SER-532; LYS-548; ARG-549; PRO-648; LEU-700; CYS-749; ASP-838; SER-902 AND LEU-904;
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.