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Results for the Protein: NP_758859
27477095

histone-lysine N-methyltransferase, H3 lysine-36 and H4 lysine-20 specific isoform a [Homo sapiens]

Known Diseases associated with this Protein:
  SOTOS SYNDROME 1
5
6
5
6
0
Tips:
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Default View:

MSH6_like - cd05837
PWWP - pfam00855
PWWP - cd05162
PWWP - smart00293
PHD - pfam00628
PHD - smart00249
N_Pac_NP60 - cd05836
WHSC1_related - cd05838
SPBC215_ISWI_like - cd05840
AWS - smart00570
SET - smart00317
SET - pfam00856
PostSET - smart00508


RefSeq Protein: NP_758859
   Default View:








Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
PWWPcd051620.0001952150
PWWPcd051626.1e-2414851575
N_Pac_NP60cd058360.0002914851580
WHSC1_relatedcd058386.8e-5414851579
SPBC215_ISWI_likecd058402.2e-0514881575
PWWPpfam008555e-0751135
PHDpfam006282.8e-1112761320
PHDpfam006283.3e-1414401482
PWWPpfam008555.9e-3414841560
SETpfam008561.1e-3816841790
PWWPsmart002931.6e-0652118
PHDsmart002495.3e-0912761317
PHDsmart002493.7e-0613231369
PHDsmart002492.6e-1014401479
PWWPsmart002931.4e-2814851547
AWSsmart005703e-2116211672
SETsmart003173.6e-4616741789
PostSETsmart005080.0001917971813
PHDsmart002491.3e-1018511893

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs28932179 Polymorphismp.ALA767PRON/A
dbSNPrs28932177 Polymorphismp.ALA422THRN/A
dbSNPrs35848863 Polymorphismp.MET1981ILEN/A
dbSNPrs34165241 Polymorphismp.MET1992THRN/A
dbSNPrs28932178 Polymorphismp.SER457PRON/A
dbSNPrs3733875 Polymorphismp.VAL345LEUN/A
OMIM606681.0010 Diseasep.ARG1051TERSOTOS SYNDROME 1
OMIM606681.0007 Diseasep.CYS1914SERSOTOS SYNDROME 1
OMIM606681.0013 Diseasep.CYS1933TYRSOTOS SYNDROME 1
OMIM606681.0006 Diseasep.HIS1874GLUSOTOS SYNDROME 1
OMIM606681.0002 Diseasep.SER168TERSOTOS SYNDROME 1



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