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UniProtKB/Swiss-Prot Q9UBC3: Variant p.Asp817Gly

DNA (cytosine-5)-methyltransferase 3B
Gene: DNMT3B
Variant information

Variant position:  817
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Aspartate (D) to Glycine (G) at position 817 (D817G, p.Asp817Gly).
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 acidic (D) to glycine (G)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -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

Involvement in disease:  Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1) [MIM:242860]: A rare disorder characterized by a variable immunodeficiency resulting in recurrent infections, facial anomalies, and branching of chromosomes 1, 9, and 16. Other variable symptoms include growth retardation, failure to thrive, and psychomotor retardation. Laboratory studies show limited hypomethylation of DNA in a small fraction of the genome in some, but not all, patients. {ECO:0000269|PubMed:10555141, ECO:0000269|PubMed:10588719, ECO:0000269|PubMed:10647011, ECO:0000269|PubMed:11102980, ECO:0000269|PubMed:15580563, ECO:0000269|PubMed:21120685, ECO:0000269|PubMed:27734333}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In ICF1.
Any additional useful information about the variant.

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



Sequence information

Variant position:  817
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  853
The length of the canonical sequence.

Location on the sequence:   EDVLWCTELERIFGFPVHYT  D VSNMGRGARQKLLGRSWSVP
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                         EDVLWCTELERIFGFPVHYTDVSNMGRGARQKLLGRSWSVP

Mouse                         DDVLWCTELERIFGFPAHYTDVSNMGRGARQKLLGRSWSVP

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 – 853 DNA (cytosine-5)-methyltransferase 3B
Domain 575 – 853 SAM-dependent MTase C5-type
Alternative sequence 745 – 853 Missing. In isoform 4.
Alternative sequence 768 – 853 LKKVQTITTKSNSIKQGKNQLFPVVMNGKEDVLWCTELERIFGFPVHYTDVSNMGRGARQKLLGRSWSVPVIRHLFAPLKDYFACE -> DLWLSCALHRRVQHGPWCPPEAAGKVLERACHPTPLRPSEGLLCM. In isoform 5.


Literature citations

Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene.
Xu G.-L.; Bestor T.H.; Bourc'his D.; Hsieh C.-L.; Tommerup N.; Bugge M.; Hulten M.; Qu X.; Russo J.J.; Viegas-Pequignot E.;
Nature 402:187-191(1999)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 6); VARIANTS ICF1 SER-663; GLY-726; GLY-817 AND MET-818;

DNMT3B mutations and DNA methylation defect define two types of ICF syndrome.
Jiang Y.L.; Rigolet M.; Bourc'his D.; Nigon F.; Bokesoy I.; Fryns J.-P.; Hulten M.; Jonveaux P.; Maraschio P.; Megarbane A.; Moncla A.; Viegas-Pequignot E.;
Hum. Mutat. 25:56-63(2005)
Cited for: VARIANTS ICF1 PRO-270; VAL-585; THR-603; ALA-606; SER-663; PRO-664; GLY-699; GLY-726; PRO-766; ARG-814; GLY-817; MET-818 AND GLN-840;

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.