Variant position: 603 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:
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 GIATGYLVLKELGIKVGKYV ASEVCEESIAVGTVKHEGNIK
Mouse GIATGYLVLKELGIKVEKYI ASEVCAESIAVGTVKHEGQIK
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.
Type Positions Description
1 – 853 DNA (cytosine-5)-methyltransferase 3B
575 – 853 SAM-dependent MTase C5-type
605 – 605 S-adenosyl-L-methionine
617 – 617 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
598 – 604
DNA methyltransferases Dnmt3a and Dnmt3b are essential for de novo methylation and mammalian development.
Okano M.; Bell D.W.; Haber D.A.; Li E.;
Cited for: VARIANTS ICF1 THR-603 AND SER-THR-PRO-806 INS;
The DNMT3B DNA methyltransferase gene is mutated in the ICF immunodeficiency syndrome.
Hansen R.S.; Wijmenga C.; Luo P.; Stanek A.M.; Canfield T.K.; Weemaes C.M.R.; Gartler S.M.;
Proc. Natl. Acad. Sci. U.S.A. 96:14412-14417(1999)
Cited for: VARIANTS ICF1 THR-603; GLY-726 AND SER-THR-PRO-806 INS;
Genetic variation in ICF syndrome: evidence for genetic heterogeneity.
Wijmenga C.; Hansen R.S.; Gimelli G.; Bjoerck E.J.; Davies E.G.; Valentine D.; Belohradsky B.H.; van Dongen J.J.; Smeets D.F.C.M.; van den Heuvel L.P.W.J.; Luyten J.A.F.M.; Strengman E.; Weemaes C.M.R.; Pearson P.L.;
Hum. Mutat. 16:509-517(2000)
Cited for: VARIANTS ICF1 VAL-585; THR-603; ALA-606; GLY-699; GLY-726; PRO-766; ARG-814 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;
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.