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Results for the Protein: Q0ZGT2
121945484

NEXN_HUMAN RecName: Full=Nexilin; AltName: Full=F-actin-binding protein; AltName: Full=Nelin

Known Diseases associated with this Protein:
  CARDIOMYOPATHY, DILATED 1CC (CMD1CC)
  CARDIOMYOPATHY, DILATED, 1CC
  CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 20 (CMH20)
  CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 20
8
2
4
1
5
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Default View:

Ig2_FGFRL1-like - cd05856
I-set - pfam07679
Ig2_FGFR_like - cd05729
IG - smart00409
IG_like - smart00410
Ig2_FGFR - cd05857
ig - pfam00047
Ig5_Contactin_like - cd04969
Ig_Titin_like - cd05748
Ig4_Neogenin - cd05723
Ig - cd00096


Swiss-Prot Protein: Q0ZGT2
Identical to: NP_653174
   Default View:













Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Ig2_FGFR_likecd057291.1e-06586671
Ig2_FGFRcd058570.00047589671
Ig5_Contactin_likecd049690.00035596671
Ig4_Neogenincd057233.3e-06598671
Ig_Titin_likecd057484.7e-05598671
Igcd000967.9e-07599668
igpfam000470.00037596656
I-setpfam076792.1e-16582671
IGsmart004094.8e-13588672
IG_likesmart004104.8e-13588672

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_065478Diseasep.ARG279CYSCardiomyopathy, familial hypertrophic 20 (CMH20)
Swiss-ProtVAR_059414Polymorphismp.ARG335LYSN/A
Swiss-ProtVAR_065477Diseasep.GLN131GLUCardiomyopathy, familial hypertrophic 20 (CMH20)
dbSNPrs1166698 Polymorphismp.GLY245ARGN/A
Swiss-ProtVAR_063009Diseasep.PRO611THRCardiomyopathy, dilated 1CC (CMD1CC)
Swiss-ProtVAR_063011Diseasep.TYR652CYSCardiomyopathy, dilated 1CC (CMD1CC)
OMIM613121.0005 Diseasep.ARG279CYSCARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 20
OMIM613121.0004 Diseasep.GLN131GLUCARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 20
OMIM613121.0003 Diseasep.PRO611THRCARDIOMYOPATHY, DILATED, 1CC
OMIM613121.0002 Diseasep.TYR652CYSCARDIOMYOPATHY, DILATED, 1CC



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