Results for the protein: Q8NBS3

Results for the Protein: Q8NBS3

29611858

83959

SLC4A11

NCBI, UniProt

S4A11_HUMAN RecName: Full=Sodium bicarbonate transporter-like protein 11; AltName: Full=Bicarbonate transporter-related protein 1; AltName: Full=Sodium borate cotransporter 1; Short=NaBC1; AltName: Full=Solute carrier family 4 member 11

Known Diseases associated with this Protein:
  CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS
  CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS (CDPD)
  CORNEAL DYSTROPHY, ENDOTHELIAL 2, AUTOSOMAL RECESSIVE (CHED2)
  CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4
  CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4 (FECD4)
  CORNEAL ENDOTHELIAL DYSTROPHY 2

51

11

13

2

47

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Default View: HCO3_cotransp - pfam00955	Swiss-Prot Protein: Q8NBS3 Identical to: NP_114423 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_034945	Disease	p.ALA160THR	Corneal dystrophy, endothelial 2, autosomal recessive (CHED2)
Swiss-Prot	VAR_063714	Disease	p.ALA269VAL	Corneal dystrophy, endothelial 2, autosomal recessive (CHED2)
Swiss-Prot	VAR_047808	Polymorphism	p.ALA327VAL	N/A
Swiss-Prot	VAR_064980	Disease	p.ARG233CYS	Corneal dystrophy, endothelial 2, autosomal recessive (CHED2)
Swiss-Prot	VAR_030665	Disease	p.ARG869CYS	Corneal dystrophy, endothelial 2, autosomal recessive (CHED2)
Swiss-Prot	VAR_030664	Disease	p.ARG755GLN	Corneal dystrophy, endothelial 2, autosomal recessive (CHED2)
Swiss-Prot	VAR_063713	Disease	p.ARG125HIS	Corneal dystrophy, endothelial 2, autosomal recessive (CHED2)
Swiss-Prot	VAR_034948	Disease	p.ARG804HIS	Corneal dystrophy, endothelial 2, autosomal recessive (CHED2)
Swiss-Prot	VAR_034954	Disease	p.ARG869HIS	Corneal dystrophy, endothelial 2, autosomal recessive (CHED2)
Swiss-Prot	VAR_034947	Disease	p.ARG488LYS	Corneal dystrophy and perceptive deafness (CDPD)
Swiss-Prot	VAR_064423	Disease	p.ARG282PRO	Corneal dystrophy, Fuchs endothelial, 4 (FECD4)
Swiss-Prot	VAR_064978	Disease	p.ARG209TRP	Corneal dystrophy, endothelial 2, autosomal recessive (CHED2)
Swiss-Prot	VAR_063716	Disease	p.ARG755TRP	Corneal dystrophy, endothelial 2, autosomal recessive (CHED2)
dbSNP	rs34520315	Polymorphism	p.ASN150SER	N/A
Swiss-Prot	VAR_047806	Polymorphism	p.ASN72THR	N/A
Swiss-Prot	VAR_063715	Disease	p.CYS386ARG	Corneal dystrophy, endothelial 2, autosomal recessive (CHED2)
Swiss-Prot	VAR_015521	Polymorphism	p.GLN408HIS	N/A
Swiss-Prot	VAR_064422	Disease	p.GLU167ASP	Corneal dystrophy, Fuchs endothelial, 4 (FECD4)
Swiss-Prot	VAR_067272	Disease	p.GLU143LYS	Corneal dystrophy, endothelial 2, autosomal recessive (CHED2)
Swiss-Prot	VAR_047809	Disease	p.GLU399LYS	Corneal dystrophy, Fuchs endothelial, 4 (FECD4)
Swiss-Prot	VAR_064981	Disease	p.GLY394ARG	Corneal dystrophy, endothelial 2, autosomal recessive (CHED2)
Swiss-Prot	VAR_064427	Disease	p.GLY742ARG	Corneal dystrophy, Fuchs endothelial, 4 (FECD4)
Swiss-Prot	VAR_064983	Disease	p.GLY418ASP	Corneal dystrophy, endothelial 2, autosomal recessive (CHED2)
Swiss-Prot	VAR_030662	Disease	p.GLY464ASP	Corneal dystrophy, endothelial 2, autosomal recessive (CHED2)
Swiss-Prot	VAR_064426	Disease	p.GLY583ASP	Corneal dystrophy, Fuchs endothelial, 4 (FECD4)
Swiss-Prot	VAR_047812	Disease	p.GLY709GLU	Corneal dystrophy, Fuchs endothelial, 4 (FECD4)
Swiss-Prot	VAR_064428	Disease	p.GLY834SER	Corneal dystrophy, Fuchs endothelial, 4 (FECD4)
Swiss-Prot	VAR_064984	Disease	p.LEU473ARG	Corneal dystrophy, endothelial 2, autosomal recessive (CHED2)
Swiss-Prot	VAR_034951	Disease	p.LEU843PRO	Corneal dystrophy and perceptive deafness (CDPD)
Swiss-Prot	VAR_063718	Disease	p.LEU873PRO	Corneal dystrophy, endothelial 2, autosomal recessive (CHED2)
Swiss-Prot	VAR_015522	Polymorphism	p.LYS409ASN	N/A
dbSNP	rs34224785	Polymorphism	p.MET848ILE	N/A
Swiss-Prot	VAR_015523	Polymorphism	p.MET483THR	N/A
Swiss-Prot	VAR_034953	Disease	p.MET856VAL	Corneal dystrophy and perceptive deafness (CDPD)
Swiss-Prot	VAR_047807	Polymorphism	p.MET91VAL	N/A
Swiss-Prot	VAR_063717	Disease	p.PRO773LEU	Corneal dystrophy, endothelial 2, autosomal recessive (CHED2)
Swiss-Prot	VAR_064979	Disease	p.SER213LEU	Corneal dystrophy, endothelial 2, autosomal recessive (CHED2)
Swiss-Prot	VAR_030663	Disease	p.SER489LEU	Corneal dystrophy, endothelial 2, autosomal recessive (CHED2)
Swiss-Prot	VAR_047811	Polymorphism	p.SER565LEU	N/A
Swiss-Prot	VAR_034946	Disease	p.SER213PRO	Corneal dystrophy and perceptive deafness (CDPD)
Swiss-Prot	VAR_015524	Polymorphism	p.THR708ALA	N/A
Swiss-Prot	VAR_064982	Disease	p.THR401LYS	Corneal dystrophy, endothelial 2, autosomal recessive (CHED2)
Swiss-Prot	VAR_064985	Disease	p.THR584LYS	Corneal dystrophy, endothelial 2, autosomal recessive (CHED2)
Swiss-Prot	VAR_047810	Polymorphism	p.THR561MET	N/A
Swiss-Prot	VAR_047813	Disease	p.THR754MET	Corneal dystrophy, Fuchs endothelial, 4 (FECD4)
Swiss-Prot	VAR_034950	Disease	p.THR833MET	Corneal dystrophy, endothelial 2, autosomal recessive (CHED2)
Swiss-Prot	VAR_064424	Disease	p.TYR526CYS	Corneal dystrophy, Fuchs endothelial, 4 (FECD4)
Swiss-Prot	VAR_064425	Disease	p.VAL575MET	Corneal dystrophy, Fuchs endothelial, 4 (FECD4)
Swiss-Prot	VAR_034949	Disease	p.VAL824MET	Corneal dystrophy, endothelial 2, autosomal recessive (CHED2)
OMIM	610206.0006	Disease	p.ARG842CYS	CORNEAL ENDOTHELIAL DYSTROPHY 2
OMIM	610206.0001	Disease	p.ARG728GLN	CORNEAL ENDOTHELIAL DYSTROPHY 2
OMIM	610206.0008	Disease	p.ARG842HIS	CORNEAL ENDOTHELIAL DYSTROPHY 2
OMIM	610206.0011	Disease	p.ARG461LYS	CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS
OMIM	610206.0004	Disease	p.ARG578TER	CORNEAL ENDOTHELIAL DYSTROPHY 2
OMIM	610206.0020	Disease	p.GLU372LYS	CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4
OMIM	610206.0003	Disease	p.GLY437ASP	CORNEAL ENDOTHELIAL DYSTROPHY 2
OMIM	610206.0017	Disease	p.GLY682GLU	CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4
OMIM	610206.0012	Disease	p.LEU816PRO	CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS
OMIM	610206.0016	Disease	p.MET829VAL	CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS
OMIM	610206.0002	Disease	p.SER462LEU	CORNEAL ENDOTHELIAL DYSTROPHY 2
OMIM	610206.0015	Disease	p.SER186PRO	CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS
OMIM	610206.0018	Disease	p.THR727MET	CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4

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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