Results for the protein: Q96L73

Results for the Protein: Q96L73

32469769

64324

NSD1

NCBI, UniProt

NSD1_HUMAN RecName: Full=Histone-lysine N-methyltransferase, H3 lysine-36 and H4 lysine-20 specific; AltName: Full=Androgen receptor coactivator 267 kDa protein; AltName: Full=Androgen receptor-associated protein of 267 kDa; AltName: Full=H3-K36-HMTase; AltName: Full=H4-K20-HMTase; AltName: Full=Lysine N-methyltransferase 3B; AltName: Full=Nuclear receptor-binding SET domain-containing protein 1; Short=NR-binding SET domain-containing protein

Known Diseases associated with this Protein:
SOTOS SYNDROME 1
SOTOS SYNDROME 1 (SOTOS1)

19

7

5

6

15

Tips:

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Default View: PWWP - smart00293 PHD - smart00249 AWS - smart00570 SET - smart00317 PostSET - smart00508	Swiss-Prot Protein: Q96L73 Identical to: NP_071900 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
PHD	smart00249	5.3e-09	1545	1586
PHD	smart00249	3.7e-06	1592	1638
PHD	smart00249	2.6e-10	1709	1748
PWWP	smart00293	1.4e-28	1754	1816
AWS	smart00570	3e-21	1890	1941
SET	smart00317	3.6e-46	1943	2058
PostSET	smart00508	0.00019	2066	2082
PHD	smart00249	1.3e-10	2120	2162

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs28932179	Polymorphism	p.ALA1036PRO	N/A
dbSNP	rs28932177	Polymorphism	p.ALA691THR	N/A
Swiss-Prot	VAR_015787	Disease	p.ARG1984GLN	Sotos syndrome 1 (SOTOS1)
Swiss-Prot	VAR_015789	Disease	p.ARG2005GLN	Sotos syndrome 1 (SOTOS1)
Swiss-Prot	VAR_015790	Disease	p.ARG2017GLN	Sotos syndrome 1 (SOTOS1)
Swiss-Prot	VAR_015791	Disease	p.ARG2017TRP	Sotos syndrome 1 (SOTOS1)
Swiss-Prot	VAR_015785	Disease	p.CYS1925ARG	Sotos syndrome 1 (SOTOS1)
Swiss-Prot	VAR_015793	Disease	p.CYS2183SER	Sotos syndrome 1 (SOTOS1)
Swiss-Prot	VAR_015782	Disease	p.CYS1674TRP	Sotos syndrome 1 (SOTOS1)
Swiss-Prot	VAR_015786	Disease	p.GLY1955ASP	Sotos syndrome 1 (SOTOS1)
Swiss-Prot	VAR_015784	Disease	p.GLY1792VAL	Sotos syndrome 1 (SOTOS1)
Swiss-Prot	VAR_015792	Disease	p.HIS2143GLN	Sotos syndrome 1 (SOTOS1)
Swiss-Prot	VAR_015780	Disease	p.HIS1616LEU	Sotos syndrome 1 (SOTOS1)
Swiss-Prot	VAR_015783	Disease	p.ILE1687ASN	Sotos syndrome 1 (SOTOS1)
Swiss-Prot	VAR_015779	Polymorphism	p.LEU1091ILE	N/A
Swiss-Prot	VAR_015781	Disease	p.LEU1637PRO	Sotos syndrome 1 (SOTOS1)
dbSNP	rs35848863	Polymorphism	p.MET2250ILE	N/A
dbSNP	rs34165241	Polymorphism	p.MET2261THR	N/A
dbSNP	rs28932178	Polymorphism	p.SER726PRO	N/A
Swiss-Prot	VAR_015788	Disease	p.TYR1997CYS	Sotos syndrome 1 (SOTOS1)
dbSNP	rs3733875	Polymorphism	p.VAL614LEU	N/A
OMIM	606681.0010	Disease	p.ARG1320TER	SOTOS SYNDROME 1
OMIM	606681.0007	Disease	p.CYS2183SER	SOTOS SYNDROME 1
OMIM	606681.0013	Disease	p.CYS2202TYR	SOTOS SYNDROME 1
OMIM	606681.0006	Disease	p.HIS2143GLU	SOTOS SYNDROME 1
OMIM	606681.0002	Disease	p.SER437TER	SOTOS SYNDROME 1

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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