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UniProtKB/Swiss-Prot Q9Y6K1: Variant p.Cys549Arg

DNA (cytosine-5)-methyltransferase 3A
Gene: DNMT3A
Variant information

Variant position:  549
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  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:  From Cysteine (C) to Arginine (R) at position 549 (C549R, p.Cys549Arg).
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:  Change from medium size and polar (C) to large size and basic (R)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -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:  In TBRS; somatic mutation.
Any additional useful information about the variant.



Sequence information

Variant position:  549
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  912
The length of the canonical sequence.

Location on the sequence:   DDDGYQSYCTICCGGREVLM  C GNNNCCRCFCVECVDLLVGP
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                         DDDGYQSYCTICCGGREVLMCGNNNCCRCFCVECVDLLVGP

Mouse                         DDDGYQSYCTICCGGREVLMCGNNNCCRCFCVECVDLLVGP

Rat                           DDDGYQSYCTICCGGREVLMCGNNNCCRCFCVECVDLLVGP

Chicken                       DDDGYQSYCTICCGGREVLMCGNNNCCRCFCVECVDLLVGP

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.

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.


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.