Results for the protein: O43511

Results for the Protein: O43511

6174895

5172

SLC26A4

NCBI, UniProt

S26A4_HUMAN RecName: Full=Pendrin; AltName: Full=Sodium-independent chloride/iodide transporter; AltName: Full=Solute carrier family 26 member 4

Known Diseases associated with this Protein:
  DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
  DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT,
  DEAFNESS, AUTOSOMAL RECESSIVE, 4 (DFNB4)
  DIGENIC
  PENDRED SYNDROME
  PENDRED SYNDROME (PDS)
  PENDRED SYNDROME, INCLUDED

77

15

17

4

71

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Default View:	Swiss-Prot Protein: O43511 Identical to: NP_000432 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_021646	Disease	p.ALA106ASP	Pendred syndrome (PDS)
Swiss-Prot	VAR_021662	Disease	p.ALA411PRO	Pendred syndrome (PDS)
Swiss-Prot	VAR_021644	Polymorphism	p.ALA104VAL	N/A
Swiss-Prot	VAR_007443	Disease	p.ALA372VAL	Deafness, autosomal recessive, 4 (DFNB4)
Swiss-Prot	VAR_027246	Polymorphism	p.ARG776CYS	N/A
Swiss-Prot	VAR_021638	Polymorphism	p.ARG24GLY	N/A
Swiss-Prot	VAR_021659	Disease	p.ARG409HIS	Pendred syndrome (PDS)
Swiss-Prot	VAR_021660	Disease	p.ARG409PRO	Deafness, autosomal recessive, 4 (DFNB4)
Swiss-Prot	VAR_064991	Polymorphism	p.ARG185THR	N/A
Swiss-Prot	VAR_021667	Disease	p.ASN457LYS	Deafness, autosomal recessive, 4 (DFNB4)
Swiss-Prot	VAR_064993	Disease	p.ASN558LYS	Deafness, autosomal recessive, 4 (DFNB4)
dbSNP	rs36039758	Polymorphism	p.ASN324TYR	N/A
Swiss-Prot	VAR_021658	Disease	p.ASN392TYR	Deafness, autosomal recessive, 4 (DFNB4)
Swiss-Prot	VAR_021681	Disease	p.ASP724ASN	Pendred syndrome (PDS)
Swiss-Prot	VAR_021655	Disease	p.ASP271HIS	Pendred syndrome (PDS)
Swiss-Prot	VAR_053665	Polymorphism	p.ASP687TYR	N/A
Swiss-Prot	VAR_021674	Disease	p.CYS565TYR	Pendred syndrome (PDS)
Swiss-Prot	VAR_021663	Polymorphism	p.GLN421ARG	N/A
Swiss-Prot	VAR_021665	Disease	p.GLN446ARG	Pendred syndrome (PDS)
Swiss-Prot	VAR_027241	Disease	p.GLN514ARG	Pendred syndrome (PDS)
Swiss-Prot	VAR_021640	Disease	p.GLU29GLN	Pendred syndrome (PDS)
Swiss-Prot	VAR_007444	Disease	p.GLU384GLY	Pendred syndrome (PDS)
Swiss-Prot	VAR_021652	Disease	p.GLY139ALA	Pendred syndrome (PDS)
Swiss-Prot	VAR_021643	Disease	p.GLY102ARG	Pendred syndrome (PDS)
Swiss-Prot	VAR_021677	Disease	p.GLY672GLU	Pendred syndrome (PDS)
Swiss-Prot	VAR_007446	Disease	p.GLY497SER	Deafness, autosomal recessive, 4 (DFNB4)
dbSNP	rs17154353	Polymorphism	p.GLY740SER	N/A
Swiss-Prot	VAR_007440	Disease	p.GLY209VAL	Pendred syndrome (PDS)
Swiss-Prot	VAR_064988	Polymorphism	p.GLY6VAL	N/A
Swiss-Prot	VAR_007449	Disease	p.HIS723ARG	Pendred syndrome (PDS)
Swiss-Prot	VAR_021669	Disease	p.ILE490LEU	Deafness, autosomal recessive, 4 (DFNB4)
Swiss-Prot	VAR_021666	Disease	p.ILE455PHE	Deafness, autosomal recessive, 4 (DFNB4)
Swiss-Prot	VAR_021678	Disease	p.LEU676GLN	Deafness, autosomal recessive, 4 (DFNB4)
Swiss-Prot	VAR_021647	Disease	p.LEU117PHE	Pendred syndrome (PDS)
Swiss-Prot	VAR_007441	Disease	p.LEU236PRO	Pendred syndrome (PDS)
Swiss-Prot	VAR_021675	Polymorphism	p.LEU597SER	N/A
Swiss-Prot	VAR_011624	Disease	p.LEU445TRP	Pendred syndrome (PDS)
Swiss-Prot	VAR_007442	Disease	p.LYS369GLU	Deafness, autosomal recessive, 4 (DFNB4)
Swiss-Prot	VAR_058581	Disease	p.MET775THR	Pendred syndrome (PDS)
Swiss-Prot	VAR_027239	Disease	p.MET147VAL	Deafness, autosomal recessive, 4 (DFNB4)
Swiss-Prot	VAR_007447	Disease	p.PHE667CYS	Pendred syndrome (PDS)
Swiss-Prot	VAR_021656	Disease	p.PHE335LEU	Pendred syndrome (PDS)
Swiss-Prot	VAR_021679	Polymorphism	p.PHE683SER	N/A
dbSNP	rs34373141	Polymorphism	p.PRO301LEU	N/A
Swiss-Prot	VAR_027238	Disease	p.PRO123SER	Deafness, autosomal recessive, 4 (DFNB4)
Swiss-Prot	VAR_021639	Disease	p.SER28ARG	Pendred syndrome (PDS)
Swiss-Prot	VAR_021657	Disease	p.SER391ASN	Pendred syndrome (PDS)
Swiss-Prot	VAR_021671	Disease	p.SER552ILE	Pendred syndrome (PDS)
Swiss-Prot	VAR_021642	Disease	p.SER90LEU	Deafness, autosomal recessive, 4 (DFNB4)
Swiss-Prot	VAR_027244	Disease	p.SER666PHE	Deafness, autosomal recessive, 4 (DFNB4)
Swiss-Prot	VAR_021650	Disease	p.SER137PRO	Pendred syndrome (PDS)
Swiss-Prot	VAR_021654	Disease	p.SER252PRO	Deafness, autosomal recessive, 4 (DFNB4)
Swiss-Prot	VAR_021680	Disease	p.SER694PRO	Pendred syndrome (PDS)
Swiss-Prot	VAR_021649	Disease	p.SER133THR	Pendred syndrome (PDS)
Swiss-Prot	VAR_027240	Disease	p.THR508ASN	Pendred syndrome (PDS)
Swiss-Prot	VAR_021648	Disease	p.THR132ILE	Deafness, autosomal recessive, 4 (DFNB4)
Swiss-Prot	VAR_011623	Disease	p.THR193ILE	Pendred syndrome (PDS)
Swiss-Prot	VAR_021661	Disease	p.THR410MET	Pendred syndrome (PDS)
Swiss-Prot	VAR_007448	Disease	p.THR721MET	Pendred syndrome (PDS)
Swiss-Prot	VAR_064989	Polymorphism	p.THR99MET	N/A
Swiss-Prot	VAR_007445	Disease	p.THR416PRO	Pendred syndrome (PDS)
Swiss-Prot	VAR_021645	Disease	p.TYR105CYS	Pendred syndrome (PDS)
Swiss-Prot	VAR_021672	Disease	p.TYR556CYS	Pendred syndrome (PDS)
Swiss-Prot	VAR_021641	Disease	p.TYR78CYS	Pendred syndrome (PDS)
Swiss-Prot	VAR_021670	Disease	p.TYR530HIS	Pendred syndrome (PDS)
Swiss-Prot	VAR_021673	Disease	p.TYR556HIS	Pendred syndrome (PDS)
Swiss-Prot	VAR_027242	Disease	p.TYR530SER	Pendred syndrome (PDS)
Swiss-Prot	VAR_064990	Polymorphism	p.VAL144ALA	N/A
Swiss-Prot	VAR_021676	Disease	p.VAL653ALA	Pendred syndrome (PDS)
Swiss-Prot	VAR_021653	Disease	p.VAL239ASP	Pendred syndrome (PDS)
Swiss-Prot	VAR_021668	Disease	p.VAL480ASP	Pendred syndrome (PDS)
dbSNP	rs17154335	Polymorphism	p.VAL609GLY	N/A
Swiss-Prot	VAR_064992	Disease	p.VAL281ILE	Deafness, autosomal recessive, 4 (DFNB4)
Swiss-Prot	VAR_058580	Disease	p.VAL402MET	Pendred syndrome (PDS)
Swiss-Prot	VAR_021651	Disease	p.VAL138PHE	Pendred syndrome (PDS)
OMIM	605646.0014	Disease	p.ALA372VAL	DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
OMIM	605646.0030	Disease	p.GLN514LYS	DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
OMIM	605646.0028	Disease	p.GLU29GLN	DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT,\|\|DIGENIC
OMIM	605646.0008 605646.0026	Disease	p.GLU384GLY	PENDRED SYNDROME
OMIM	605646.0009	Disease	p.GLY209VAL	DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
OMIM	605646.0011	Disease	p.HIS723ARG	DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT\|\|PENDRED SYNDROME, INCLUDED
OMIM	605646.0005	Disease	p.LEU236PRO	PENDRED SYNDROME
OMIM	605646.0018	Disease	p.LEU445TRP	PENDRED SYNDROME
OMIM	605646.0010	Disease	p.LYS369GLU	DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
OMIM	605646.0001	Disease	p.PHE667CYS	PENDRED SYNDROME
OMIM	605646.0031	Disease	p.PHE335LEU	DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT,\|\|DIGENIC
OMIM	605646.0023	Disease	p.SER133THR	PENDRED SYNDROME
OMIM	605646.0019	Disease	p.THR193ILE	PENDRED SYNDROME
OMIM	605646.0012	Disease	p.THR721MET	DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT\|\|PENDRED SYNDROME, INCLUDED
OMIM	605646.0006	Disease	p.THR416PRO	PENDRED SYNDROME
OMIM	605646.0025	Disease	p.TYR530HIS	PENDRED SYNDROME
OMIM	605646.0024	Disease	p.VAL138PHE	PENDRED SYNDROME

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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