Results for the protein: P58418

Results for the Protein: P58418

125987806

7401

CLRN1

NCBI, UniProt

CLRN1_HUMAN RecName: Full=Clarin-1; AltName: Full=Usher syndrome type-3 protein

Known Diseases associated with this Protein:
  RETINITIS PIGMENTOSA 61
  RETINITIS PIGMENTOSA 61 (RP61)
  USHER SYNDROME 3A (USH3A)
  USHER SYNDROME, TYPE IIIA

15

1

8

0

8

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Default View:	Swiss-Prot Protein: P58418 Identical to: NP_777367 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_030345	Disease	p.ASN48LYS	Usher syndrome 3A (USH3A)
Swiss-Prot	VAR_054555	Disease	p.CYS40GLY	Usher syndrome 3A (USH3A)
Swiss-Prot	VAR_030346	Disease	p.LEU150PRO	Usher syndrome 3A (USH3A)
Swiss-Prot	VAR_066674	Disease	p.LEU154TRP	Retinitis pigmentosa 61 (RP61)
Swiss-Prot	VAR_053825	Polymorphism	p.LYS7ILE	N/A
Swiss-Prot	VAR_012241	Disease	p.MET120LYS	Usher syndrome 3A (USH3A)
Swiss-Prot	VAR_066673	Disease	p.PRO31LEU	Retinitis pigmentosa 61 (RP61)
Swiss-Prot	VAR_054556	Disease	p.SER105PRO	Usher syndrome 3A (USH3A)
OMIM	606397.0004	Disease	p.ASN48LYS	USHER SYNDROME, TYPE IIIA
OMIM	606397.0008	Disease	p.CYS40GLY	USHER SYNDROME, TYPE IIIA
OMIM	606397.0005	Disease	p.LEU1PRO	USHER SYNDROME, TYPE IIIA
OMIM	606397.0009	Disease	p.LEU1TRP	RETINITIS PIGMENTOSA 61
OMIM	606397.0002	Disease	p.MET120LYS	USHER SYNDROME, TYPE IIIA
OMIM	606397.0010	Disease	p.PRO31LEU	RETINITIS PIGMENTOSA 61
OMIM	606397.0001	Disease	p.TYR163TER	USHER SYNDROME, TYPE IIIA
OMIM	606397.0006	Disease	p.TYR63TER	USHER SYNDROME, TYPE IIIA

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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