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Results for the Protein: Q96L73
32469769

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
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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 ↕
PWWPsmart002931.6e-06321387
PHDsmart002495.3e-0915451586
PHDsmart002493.7e-0615921638
PHDsmart002492.6e-1017091748
PWWPsmart002931.4e-2817541816
AWSsmart005703e-2118901941
SETsmart003173.6e-4619432058
PostSETsmart005080.0001920662082
PHDsmart002491.3e-1021202162

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs28932179 Polymorphismp.ALA1036PRON/A
dbSNPrs28932177 Polymorphismp.ALA691THRN/A
Swiss-ProtVAR_015787Diseasep.ARG1984GLNSotos syndrome 1 (SOTOS1)
Swiss-ProtVAR_015789Diseasep.ARG2005GLNSotos syndrome 1 (SOTOS1)
Swiss-ProtVAR_015790Diseasep.ARG2017GLNSotos syndrome 1 (SOTOS1)
Swiss-ProtVAR_015791Diseasep.ARG2017TRPSotos syndrome 1 (SOTOS1)
Swiss-ProtVAR_015785Diseasep.CYS1925ARGSotos syndrome 1 (SOTOS1)
Swiss-ProtVAR_015793Diseasep.CYS2183SERSotos syndrome 1 (SOTOS1)
Swiss-ProtVAR_015782Diseasep.CYS1674TRPSotos syndrome 1 (SOTOS1)
Swiss-ProtVAR_015786Diseasep.GLY1955ASPSotos syndrome 1 (SOTOS1)
Swiss-ProtVAR_015784Diseasep.GLY1792VALSotos syndrome 1 (SOTOS1)
Swiss-ProtVAR_015792Diseasep.HIS2143GLNSotos syndrome 1 (SOTOS1)
Swiss-ProtVAR_015780Diseasep.HIS1616LEUSotos syndrome 1 (SOTOS1)
Swiss-ProtVAR_015783Diseasep.ILE1687ASNSotos syndrome 1 (SOTOS1)
Swiss-ProtVAR_015779Polymorphismp.LEU1091ILEN/A
Swiss-ProtVAR_015781Diseasep.LEU1637PROSotos syndrome 1 (SOTOS1)
dbSNPrs35848863 Polymorphismp.MET2250ILEN/A
dbSNPrs34165241 Polymorphismp.MET2261THRN/A
dbSNPrs28932178 Polymorphismp.SER726PRON/A
Swiss-ProtVAR_015788Diseasep.TYR1997CYSSotos syndrome 1 (SOTOS1)
dbSNPrs3733875 Polymorphismp.VAL614LEUN/A
OMIM606681.0010 Diseasep.ARG1320TERSOTOS SYNDROME 1
OMIM606681.0007 Diseasep.CYS2183SERSOTOS SYNDROME 1
OMIM606681.0013 Diseasep.CYS2202TYRSOTOS SYNDROME 1
OMIM606681.0006 Diseasep.HIS2143GLUSOTOS SYNDROME 1
OMIM606681.0002 Diseasep.SER437TERSOTOS SYNDROME 1



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