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Results for the Protein: Q6ZUT3
74749680

FRMD7_HUMAN RecName: Full=FERM domain-containing protein 7

Known Diseases associated with this Protein:
  NYSTAGMUS 1, CONGENITAL, X-LINKED
  NYSTAGMUS CONGENITAL X-LINKED 1 (NYS1)
  NYSTAGMUS, INFANTILE PERIODIC ALTERNATING, X-LINKED, INCLUDED
28
2
8
1
21
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Default View:

B41 - smart00295
FERM_N - pfam09379
FERM_C - pfam09380
FA - pfam08736


Swiss-Prot Protein: Q6ZUT3
Identical to: NP_919253
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
FERM_Npfam093792.2e-26683
FERM_Cpfam093803.3e-36196283
FApfam087367.5e-15289336

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_028957Diseasep.ALA266PRONystagmus congenital X-linked 1 (NYS1)
Swiss-ProtVAR_028955Diseasep.ALA226THRNystagmus congenital X-linked 1 (NYS1)
Swiss-ProtVAR_062654Diseasep.ARG229CYSNystagmus congenital X-linked 1 (NYS1)
Swiss-ProtVAR_062657Diseasep.ARG261GLNNystagmus congenital X-linked 1 (NYS1)
Swiss-ProtVAR_062655Diseasep.ARG229GLYNystagmus congenital X-linked 1 (NYS1)
Swiss-ProtVAR_062656Diseasep.ARG261GLYNystagmus congenital X-linked 1 (NYS1)
Swiss-ProtVAR_028962Polymorphismp.ARG468HISN/A
Swiss-ProtVAR_062652Diseasep.ARG146TRPNystagmus congenital X-linked 1 (NYS1)
Swiss-ProtVAR_028954Diseasep.ASN221ASPNystagmus congenital X-linked 1 (NYS1)
Swiss-ProtVAR_062658Diseasep.CYS271PHENystagmus congenital X-linked 1 (NYS1)
Swiss-ProtVAR_028958Diseasep.CYS271TYRNystagmus congenital X-linked 1 (NYS1)
Swiss-ProtVAR_028952Diseasep.GLY24ARGNystagmus congenital X-linked 1 (NYS1)
Swiss-ProtVAR_062660Diseasep.GLY296ARGNystagmus congenital X-linked 1 (NYS1)
Swiss-ProtVAR_028951Diseasep.GLY24GLUNystagmus congenital X-linked 1 (NYS1)
Swiss-ProtVAR_062651Diseasep.GLY24TRPNystagmus congenital X-linked 1 (NYS1)
Swiss-ProtVAR_062659Diseasep.HIS275PRONystagmus congenital X-linked 1 (NYS1)
Swiss-ProtVAR_028953Diseasep.LEU142ARGNystagmus congenital X-linked 1 (NYS1)
Swiss-ProtVAR_028956Diseasep.LEU231VALNystagmus congenital X-linked 1 (NYS1)
dbSNPrs5977625 Polymorphismp.SER281LEUN/A
Swiss-ProtVAR_028961Diseasep.SER340LEUNystagmus congenital X-linked 1 (NYS1)
Swiss-ProtVAR_062653Diseasep.TRP225GLYNystagmus congenital X-linked 1 (NYS1)
Swiss-ProtVAR_028960Diseasep.TYR301CYSNystagmus congenital X-linked 1 (NYS1)
OMIM300628.0008 Diseasep.ARG229GLYNYSTAGMUS 1, CONGENITAL, X-LINKED
OMIM300628.0002 Diseasep.ARG335TERNYSTAGMUS 1, CONGENITAL, X-LINKED||NYSTAGMUS, INFANTILE PERIODIC ALTERNATING, X-LINKED, INCLUDED
OMIM300628.0011 Diseasep.CYS271TYRNYSTAGMUS 1, CONGENITAL, X-LINKED||NYSTAGMUS, INFANTILE PERIODIC ALTERNATING, X-LINKED, INCLUDED
OMIM300628.0001 Diseasep.GLN201TERNYSTAGMUS 1, CONGENITAL, X-LINKED
OMIM300628.0005 Diseasep.GLY24ARGNYSTAGMUS 1, CONGENITAL, X-LINKED||NYSTAGMUS, INFANTILE PERIODIC ALTERNATING, X-LINKED, INCLUDED
OMIM300628.0007 Diseasep.LEU142ARGNYSTAGMUS 1, CONGENITAL, X-LINKED
OMIM300628.0010 Diseasep.LEU231VALNYSTAGMUS 1, CONGENITAL, X-LINKED||NYSTAGMUS, INFANTILE PERIODIC ALTERNATING, X-LINKED, INCLUDED
OMIM300628.0004 Diseasep.VAL84VALNYSTAGMUS 1, CONGENITAL, X-LINKED



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