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UniProtKB/Swiss-Prot Q9Y6K1: Variant p.Arg882His

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

Variant position:  882
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 Arginine (R) to Histidine (H) at position 882 (R882H, p.Arg882His).
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 large size and basic (R) to medium size and polar (H)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  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

Variant description:  In TBRS and AML; somatic variant in AML.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.

Sequence information

Variant position:  882
The position of the amino-acid change on the UniProtKB canonical protein sequence.

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

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.





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.

Chain 1 – 912 DNA (cytosine-5)-methyltransferase 3A
Domain 634 – 912 SAM-dependent MTase C5-type
Alternative sequence 167 – 912 Missing. In isoform 3.
Helix 882 – 890

Literature citations

DNMT3A mutations in acute myeloid leukemia.
Ley T.J.; Ding L.; Walter M.J.; McLellan M.D.; Lamprecht T.; Larson D.E.; Kandoth C.; Payton J.E.; Baty J.; Welch J.; Harris C.C.; Lichti C.F.; Townsend R.R.; Fulton R.S.; Dooling D.J.; Koboldt D.C.; Schmidt H.; Zhang Q.; Osborne J.R.; Lin L.; O'Laughlin M.; McMichael J.F.; Delehaunty K.D.; McGrath S.D.; Fulton L.A.; Magrini V.J.; Vickery T.L.; Hundal J.; Cook L.L.; Conyers J.J.; Swift G.W.; Reed J.P.; Alldredge P.A.; Wylie T.; Walker J.; Kalicki J.; Watson M.A.; Heath S.; Shannon W.D.; Varghese N.; Nagarajan R.; Westervelt P.; Tomasson M.H.; Link D.C.; Graubert T.A.; DiPersio J.F.; Mardis E.R.; Wilson R.K.;
N. Engl. J. Med. 363:2424-2433(2010)

Mutational spectrum analysis of chronic myelomonocytic leukemia includes genes associated with epigenetic regulation: UTX, EZH2, and DNMT3A.
Jankowska A.M.; Makishima H.; Tiu R.V.; Szpurka H.; Huang Y.; Traina F.; Visconte V.; Sugimoto Y.; Prince C.; O'Keefe C.; Hsi E.D.; List A.; Sekeres M.A.; Rao A.; McDevitt M.A.; Maciejewski J.P.;
Blood 118:3932-3941(2011)
Cited for: VARIANTS ASP-699; PHE-731 DEL; CYS-882; HIS-882 AND PRO-882;

Acute myeloid leukemia-associated DNMT3A p.Arg882His mutation in a patient with Tatton-Brown-Rahman overgrowth syndrome as a constitutional mutation.
Kosaki R.; Terashima H.; Kubota M.; Kosaki K.;
Am. J. Med. Genet. A 173:250-253(2017)
Cited for: VARIANT TBRS HIS-882;

The spectrum of DNMT3A variants in Tatton-Brown-Rahman syndrome overlaps with that in hematologic malignancies.
Shen W.; Heeley J.M.; Carlston C.M.; Acuna-Hidalgo R.; Nillesen W.M.; Dent K.M.; Douglas G.V.; Levine K.L.; Bayrak-Toydemir P.; Marcelis C.L.; Shinawi M.; Carey J.C.;
Am. J. Med. Genet. A 173:3022-3028(2017)
Cited for: VARIANTS TBRS CYS-882 AND HIS-882;

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.