Results for the protein: Q9UMN6

Results for the Protein: Q9UMN6

12643900

9757

KMT2B

NCBI, UniProt

KMT2B_HUMAN RecName: Full=Histone-lysine N-methyltransferase 2B; Short=Lysine N-methyltransferase 2B; AltName: Full=Myeloid/lymphoid or mixed-lineage leukemia protein 4; AltName: Full=Trithorax homolog 2; AltName: Full=WW domain-binding protein 7; Short=WBP-7

			0 12 0 5 7

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Default View: zf-CXXC - pfam02008 PHD - pfam00628 PHD - smart00249 Bromo_ALL-1 - cd05493 FYRN - pfam05964 FYRN - smart00541 COG2940 - COG2940 FYRC - pfam05965 FYRC - smart00542 SET - smart00317 SET - pfam00856 PostSET - smart00508	Swiss-Prot Protein: Q9UMN6 Identical to: NP_055542 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
zf-CXXC	pfam02008	1.8e-17	958	1005
PHD	pfam00628	2.7e-08	1203	1252
PHD	pfam00628	4.5e-06	1253	1303
PHD	pfam00628	7.1e-14	1337	1396
COG2940	COG2940	0.00017	2264	2715
SET	pfam00856	1.5e-40	2586	2691
PHD	smart00249	4.2e-05	1203	1249
PHD	smart00249	2e-11	1251	1300
PHD	smart00249	3.8e-09	1337	1393
FYRN	pfam05964	5.4e-22	1732	1782
FYRN	smart00541	2.2e-20	1739	1782
FYRC	pfam05965	3.9e-33	2411	2494
FYRC	smart00542	4.4e-38	2413	2498
SET	smart00317	4.2e-41	2576	2690
PostSET	smart00508	2.4e-05	2699	2715

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs231591	Polymorphism	p.ASP2364GLY	N/A
dbSNP	rs36062432	Polymorphism	p.LYS2408ASN	N/A
dbSNP	rs16970649	Polymorphism	p.PRO1829LEU	N/A
dbSNP	rs179686	Polymorphism	p.PRO754LEU	N/A
dbSNP	rs80216638	Polymorphism	p.THR498ASN	N/A
Swiss-Prot	VAR_052654	Polymorphism	p.ASP2364GLY	N/A
Swiss-Prot	VAR_052655	Polymorphism	p.LYS2408ASN	N/A
Swiss-Prot	VAR_046563	Polymorphism	p.PRO587ARG	N/A
Swiss-Prot	VAR_046565	Polymorphism	p.PRO1097LEU	N/A
Swiss-Prot	VAR_052653	Polymorphism	p.PRO1829LEU	N/A
Swiss-Prot	VAR_046564	Polymorphism	p.PRO754LEU	N/A
Swiss-Prot	VAR_061913	Polymorphism	p.THR172ILE	N/A

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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