Results for the protein: Q8WZ55

Results for the Protein: Q8WZ55

54035724

7809

BSND

NCBI, UniProt

BSND_HUMAN RecName: Full=Barttin

Known Diseases associated with this Protein:
  BARTTER SYNDROME 4A (BS4A)
  BARTTER SYNDROME, TYPE 4A
  SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION

12

1

8

1

4

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Default View:	Swiss-Prot Protein: Q8WZ55 Identical to: NP_476517 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_019783	Disease	p.ARG8LEU	Bartter syndrome 4A (BS4A)
Swiss-Prot	VAR_019784	Disease	p.ARG8TRP	Bartter syndrome 4A (BS4A)
Swiss-Prot	VAR_019786	Disease	p.GLY47ARG	Bartter syndrome 4A (BS4A)
Swiss-Prot	VAR_019785	Disease	p.GLY10SER	Bartter syndrome 4A (BS4A)
dbSNP	rs34561376	Polymorphism	p.VAL43ILE	N/A
OMIM	606412.0007	Disease	p.ARG8LEU	BARTTER SYNDROME, TYPE 4A
OMIM	606412.0002	Disease	p.ARG8TRP	BARTTER SYNDROME, TYPE 4A
OMIM	606412.0010	Disease	p.GLU4TER	SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION
OMIM	606412.0008	Disease	p.GLY47ARG	BARTTER SYNDROME, TYPE 4A
OMIM	606412.0006	Disease	p.GLY10SER	BARTTER SYNDROME, TYPE 4A
OMIM	606412.0009	Disease	p.ILE12THR	SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION
OMIM	606412.0005	Disease	p.MET1ILE	BARTTER SYNDROME, TYPE 4A
OMIM	606412.0001	Disease	p.MET1LEU	BARTTER SYNDROME, TYPE 4A

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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