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Results for the Protein: Q07889
6094322

SOS1_HUMAN RecName: Full=Son of sevenless homolog 1; Short=SOS-1

Known Diseases associated with this Protein:
  NOONAN SYNDROME 4
  NOONAN SYNDROME 4 (NS4)
42
13
5
0
50
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

 Clicking a check box will display or hide the correlated domain.

 To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.



Default View:

Histone - pfam00125
RhoGEF - cd00160
RhoGEF - smart00325
RhoGEF - pfam00621
PH_SOS - cd01261
PH1_FGD1 - cd01219
PH - smart00233
PH - pfam00169
PH-like - cd00900
PH - cd00821
RasGEFN - smart00229
RasGEF_N - pfam00618
REM - cd06224
RasGEF - cd00155
RasGEF - smart00147
RasGEF - pfam00617


Swiss-Prot Protein: Q07889
Identical to: NP_005624
   Default View:








Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
RhoGEFcd001602.9e-42201388
PH_SOScd012612.5e-78441548
PH1_FGD1cd012190.001443547
PHcd008219e-16446544
PH-likecd009001.7e-14446544
REMcd062241.2e-45605739
RasGEFcd001551.1e-1007761015
Histonepfam001251.3e-1597169
RhoGEFpfam006211.6e-09209389
PHpfam001698.8e-19444546
RasGEF_Npfam006182.2e-37600717
RasGEFpfam006179.5e-73777963
RhoGEFsmart003255e-38204389
PHsmart002334e-16444546
RasGEFNsmart002292.2e-67597741
RasGEFsmart001474.8e-1047761020

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_066053Polymorphismp.ALA708THRN/A
Swiss-ProtVAR_064506Diseasep.ARG497GLNNoonan syndrome 4 (NS4)
Swiss-ProtVAR_030434Diseasep.ARG552GLYNoonan syndrome 4 (NS4)
Swiss-ProtVAR_066057Polymorphismp.ARG1131LYSN/A
Swiss-ProtVAR_030435Diseasep.ARG552LYSNoonan syndrome 4 (NS4)
Swiss-ProtVAR_066048Diseasep.ARG552METNoonan syndrome 4 (NS4)
Swiss-ProtVAR_030436Diseasep.ARG552SERNoonan syndrome 4 (NS4)
Swiss-ProtVAR_066049Diseasep.ARG552THRNoonan syndrome 4 (NS4)
Swiss-ProtVAR_066056Polymorphismp.ASN1011SERN/A
Swiss-ProtVAR_030426Diseasep.ASP309TYRNoonan syndrome 4 (NS4)
Swiss-ProtVAR_030431Diseasep.CYS441TYRNoonan syndrome 4 (NS4)
Swiss-ProtVAR_064505Diseasep.GLN477ARGNoonan syndrome 4 (NS4)
Swiss-ProtVAR_030442Polymorphismp.GLN977ARGN/A
Swiss-ProtVAR_030423Diseasep.GLU108LYSNoonan syndrome 4 (NS4)
Swiss-ProtVAR_066038Diseasep.GLU424LYSNoonan syndrome 4 (NS4)
Swiss-ProtVAR_030429Diseasep.GLU433LYSNoonan syndrome 4 (NS4)
Swiss-ProtVAR_030441Diseasep.GLU846LYSNoonan syndrome 4 (NS4)
Swiss-ProtVAR_030430Diseasep.GLY434ARGNoonan syndrome 4 (NS4)
Swiss-ProtVAR_066045Diseasep.GLY482ARGNoonan syndrome 4 (NS4)
Swiss-ProtVAR_066041Diseasep.GLY434LYSNoonan syndrome 4 (NS4)
Swiss-ProtVAR_030443Polymorphismp.HIS1320ARGN/A
Swiss-ProtVAR_030440Diseasep.ILE733PHENoonan syndrome 4 (NS4)
Swiss-ProtVAR_066035Diseasep.ILE252THRNoonan syndrome 4 (NS4)
Swiss-ProtVAR_066042Diseasep.ILE437THRNoonan syndrome 4 (NS4)
Swiss-ProtVAR_066054Polymorphismp.ILE784THRN/A
Swiss-ProtVAR_066046Diseasep.LEU490ARGNoonan syndrome 4 (NS4)
Swiss-ProtVAR_066058Polymorphismp.LEU1140ILEN/A
Swiss-ProtVAR_030433Diseasep.LEU550PRONoonan syndrome 4 (NS4)
Swiss-ProtVAR_066051Polymorphismp.LEU569VALN/A
Swiss-ProtVAR_066034Diseasep.LYS170GLUNoonan syndrome 4 (NS4)
Swiss-ProtVAR_030425Diseasep.MET269ARGNoonan syndrome 4 (NS4)
Swiss-ProtVAR_064504Diseasep.MET269THRNoonan syndrome 4 (NS4)
Swiss-ProtVAR_066037Diseasep.MET422VALNoonan syndrome 4 (NS4)
Swiss-ProtVAR_066052Diseasep.PHE623ILENoonan syndrome 4 (NS4)
Swiss-ProtVAR_066032Diseasep.PRO102ARGNoonan syndrome 4 (NS4)
Swiss-ProtVAR_066033Diseasep.PRO112ARGNoonan syndrome 4 (NS4)
Swiss-ProtVAR_066044Diseasep.PRO478ARGNoonan syndrome 4 (NS4)
Swiss-ProtVAR_066055Diseasep.PRO894ARGNoonan syndrome 4 (NS4)
Swiss-ProtVAR_066043Polymorphismp.PRO478LEUN/A
Swiss-ProtVAR_030437Polymorphismp.PRO655LEUN/A
Swiss-ProtVAR_030432Diseasep.SER548ARGNoonan syndrome 4 (NS4)
Swiss-ProtVAR_066059Polymorphismp.THR1257ALAN/A
Swiss-ProtVAR_066031Polymorphismp.THR37ALAN/A
Swiss-ProtVAR_066036Polymorphismp.THR378ALAN/A
Swiss-ProtVAR_030424Diseasep.THR266LYSNoonan syndrome 4 (NS4)
Swiss-ProtVAR_066047Diseasep.THR549LYSNoonan syndrome 4 (NS4)
Swiss-ProtVAR_030428Diseasep.TRP432ARGNoonan syndrome 4 (NS4)
Swiss-ProtVAR_030439Diseasep.TRP729LEUNoonan syndrome 4 (NS4)
Swiss-ProtVAR_030427Diseasep.TYR337CYSNoonan syndrome 4 (NS4)
Swiss-ProtVAR_030438Diseasep.TYR702HISNoonan syndrome 4 (NS4)
OMIM182530.0004 Diseasep.ARG552GLYNOONAN SYNDROME 4
OMIM182530.0005 Diseasep.ARG552SERNOONAN SYNDROME 4
OMIM182530.0003 Diseasep.MET269ARGNOONAN SYNDROME 4
OMIM182530.0002 Diseasep.THR266LYSNOONAN SYNDROME 4
OMIM182530.0006 Diseasep.TRP432ARGNOONAN SYNDROME 4



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