PiSITE

PDB ID	1KHC	CHAIN	A
Protein name	DNA cytosine-5 methyltransferase 3B2
Uniprot Accession	O88509
The number of similar proteins	17
The number of binding states	2
The number of binding partners	1

Molecule viewer

Only interaction residues

#binding
partners

	1
	0

1

GDSTEYQDDK

EFGIGDLVWG

KIKGFSWWPA

MVVSWKATSK

RQAMPGMRWV

50

51

QWFGDGKFSE

ISADKLVALG

LFSQHFNLAT

FNKLVSYRKA

MYHTLEKARV

100

101

RAGKTFSSSP

GESLEDQLKP

MLEWAHGGFK

PTGIEGLKPN

KKQPENK

150

DNA (cytosine-5)-methyltransferase 3B

Residue	AA	Source	dbSNP	Clinical Significance	Allele Frequency (> 0.0001)	Disease name
236_VAL	MET	8.3kJPN chr20:31376690	-	-	0.0001	-
238_GLY	TER	ClinVar chr20:31376696	rs2145960216	Pathogenic	-	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [MONDO:MONDO:0000133,MedGen:C0398788,OMIM:PS242860,Orphanet:2268]
259_ARG	TER	ClinVar chr20:31376759	-	Pathogenic	-	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [MONDO:MONDO:0000133,MedGen:C0398788,OMIM:PS242860,Orphanet:2268]
267_TRP	TER	ClinVar chr20:31376785	rs1979652729	Pathogenic	-	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [MONDO:MONDO:0000133,MedGen:C0398788,OMIM:PS242860,Orphanet:2268]
277_SER	PRO	ClinVar chr20:31376813	rs121908947	Pathogenic	-	Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [MONDO:MONDO:0009454,MedGen:C4551557,OMIM:242860,Orphanet:2268]
303_VAL	ILE	gnomAD chr20:31379479	rs145632647	-	0.00067602	-
306_ARG	GLN	8.3kJPN chr20:31379489	-	-	0.0001	-

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