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Results for the Protein: Q8IZU9
55736065

KIRR3_HUMAN RecName: Full=Kin of IRRE-like protein 3; AltName: Full=Kin of irregular chiasm-like protein 3; AltName: Full=Nephrin-like protein 2; Flags: Precursor

Known Diseases associated with this Protein:
  MENTAL RETARDATION, AUTOSOMAL DOMINANT 4
  MENTAL RETARDATION, AUTOSOMAL DOMINANT 4 (MRD4)
6
1
3
1
3
Tips:
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Default View:

I-set - pfam07679
Ig2_Robo - cd05724
IG_like - smart00410
IG - smart00409
V-set - pfam07686
C2-set_2 - pfam08205
IgC - cd00098
ig - pfam00047
Ig2_Necl-1-4_like - cd05761
Ig2_KIRREL3-like - cd05759
Ig - cd00096
Ig2_Necl-4 - cd05885
Ig1_Robo - cd07693
Ig2_FGFR_like - cd05729
Ig2_FGFRL1-like - cd05856
IGc2 - smart00408
Ig3_Peroxidasin - cd05745
Ig3_Robo - cd05725
Ig5_KIRREL3 - cd05898
Ig5_KIRREL3-like - cd05758
Ig8_DSCAM - cd05735


Swiss-Prot Protein: Q8IZU9
Identical to: NP_115920
   Default View:













Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Ig2_Robocd057242.8e-0552143
IgCcd000984.1e-05150245
Ig2_KIRREL3-likecd057592.2e-60165246
Ig2_Necl-1-4_likecd057615.3e-05165246
Igcd000969.9e-06166243
Ig2_Necl-4cd058850.00015166246
Ig1_Robocd076939e-05334417
Ig2_FGFR_likecd057295.6e-05341416
Ig2_FGFRL1-likecd058560.00015341416
Ig3_Peroxidasincd057450.00071349416
Igcd000961.8e-09352415
Ig3_Robocd057250.00027352416
Ig5_KIRREL3-likecd057583.4e-69418515
Ig5_KIRREL3cd058982.4e-69418515
Ig8_DSCAMcd057350.00096433523
igpfam000470.00056163229
igpfam000471.2e-07349400
I-setpfam076797.3e-0548145
IGsmart004091.4e-0954144
IG_likesmart004101.4e-0954144
V-setpfam076860.000556143
I-setpfam076795.3e-05150246
C2-set_2pfam082051.8e-05150238
IGsmart004090.00031155245
IG_likesmart004100.00031155245
I-setpfam076795.3e-15335416
IGsmart004092.9e-13341417
IG_likesmart004102.9e-13341417
IGc2smart004081.1e-08348405
I-setpfam076790.00034419516
IGsmart004091.6e-08425517
IG_likesmart004101.6e-08425517

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_054829Diseasep.ARG336GLNMental retardation, autosomal dominant 4 (MRD4)
Swiss-ProtVAR_054828Diseasep.ARG40TRPMental retardation, autosomal dominant 4 (MRD4)
dbSNPrs111418068 Polymorphismp.ILE190VALN/A
Swiss-ProtVAR_054830Diseasep.VAL731PHEMental retardation, autosomal dominant 4 (MRD4)
OMIM607761.0002 Diseasep.ARG336GLNMENTAL RETARDATION, AUTOSOMAL DOMINANT 4
OMIM607761.0001 Diseasep.ARG40TRPMENTAL RETARDATION, AUTOSOMAL DOMINANT 4
OMIM607761.0003 Diseasep.VAL731PHEMENTAL RETARDATION, AUTOSOMAL DOMINANT 4



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