Variant position: 495 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1616 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 ALIGFSTSFAEYILMDPSPE YAPIFGLMQEKIYISKIVVEF
Mouse VLIGFSTAFAEYILMEPSKE YEPIFGLMQEKIYISKIVVEF
Rat ALIGFSTAFAEYFLMEPSPE YAPIFGLMQEKIYISKIVVEF
Bovine ALLGFSTSFAEYILMDPSPE YAPLFSVMQEKIYISKIVVEF
Chicken ALIGFTTAFADYILMEPSEE YAPIFALMQEKIYMSKIVVEF
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 – 1616 DNA (cytosine-5)-methyltransferase 1
308 – 606 Interaction with the PRC2/EED-EZH2 complex
310 – 502 Homodimerization
331 – 550 DNA replication foci-targeting sequence
509 – 509 Important for activity
509 – 509 Phosphoserine
493 – 495
Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss.
Klein C.J.; Botuyan M.V.; Wu Y.; Ward C.J.; Nicholson G.A.; Hammans S.; Hojo K.; Yamanishi H.; Karpf A.R.; Wallace D.C.; Simon M.; Lander C.; Boardman L.A.; Cunningham J.M.; Smith G.E.; Litchy W.J.; Boes B.; Atkinson E.J.; Middha S.; Dyck P.J.B.; Parisi J.E.; Mer G.; Smith D.I.; Dyck P.J.;
Nat. Genet. 43:595-600(2011)
Cited for: VARIANTS HSN1E 490-GLU-TYR-491 AND CYS-495; CHARACTERIZATION OF VARIANTS HSN1E 490-GLU-TYR-491 AND CYS-495;
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.