ATP6V0A4
Gene name: ATPase, H+ transporting, lysosomal V0 subunit a4OMIM ID: 605239
Chromosome location: 7q34
Mutations
| Disease/Phenotype | Renal tubular acidosis, distal, autosomal recessive |
|---|---|
| Reference transcript | NM_020632.2 |
| DNA Change | c.1181_1185delCCCCC |
| A.A. Change | p.Ala394ValfsX34 |
| Exon/Intron | exon 13 |
| Mutation Type | deletion |
| Reference | Vargas-Poussou R, Houillier P, Le Pottier N, Strompf L, Loirat C, Baudouin V, Macher MA, D?chaux M, Ulinski T, Nobili F, Eckart P, Novo R, Cailliez M, Salomon R, Nivet H, Cochat P, Tack I, Fargeot A, Bouissou F, Kesler GR, Lorotte S, Godefroid N, Layet V, Morin G, Jeunema?tre X, Blanchard A.Genetic investigation of autosomal recessive distal renal tubular acidosis: evidence for early sensorineural hearing loss associated with mutations in the ATP6V0A4 gene. J Am Soc Nephrol. 2006 May;17(5):1437-43. |
| Disease/Phenotype | Renal tubular acidosis, distal, autosomal recessive |
|---|---|
| Reference transcript | NM_020632.2 |
| DNA Change | c.322C>T |
| A.A. Change | p.Gln108X |
| Exon/Intron | exon 5 |
| Mutation Type | substitution |
| Reference | Vargas-Poussou R, Houillier P, Le Pottier N, Strompf L, Loirat C, Baudouin V, Macher MA, D?chaux M, Ulinski T, Nobili F, Eckart P, Novo R, Cailliez M, Salomon R, Nivet H, Cochat P, Tack I, Fargeot A, Bouissou F, Kesler GR, Lorotte S, Godefroid N, Layet V, Morin G, Jeunema?tre X, Blanchard A.Genetic investigation of autosomal recessive distal renal tubular acidosis: evidence for early sensorineural hearing loss associated with mutations in the ATP6V0A4 gene. J Am Soc Nephrol. 2006 May;17(5):1437-43. |
| Disease/Phenotype | Renal tubular acidosis, distal, autosomal recessive |
|---|---|
| Reference transcript | NM_020632.2 |
| DNA Change | c.387C>A |
| A.A. Change | p.Tyr129X |
| Exon/Intron | exon 5 |
| Mutation Type | substitution |
| Reference | Vargas-Poussou R, Houillier P, Le Pottier N, Strompf L, Loirat C, Baudouin V, Macher MA, D?chaux M, Ulinski T, Nobili F, Eckart P, Novo R, Cailliez M, Salomon R, Nivet H, Cochat P, Tack I, Fargeot A, Bouissou F, Kesler GR, Lorotte S, Godefroid N, Layet V, Morin G, Jeunema?tre X, Blanchard A.Genetic investigation of autosomal recessive distal renal tubular acidosis: evidence for early sensorineural hearing loss associated with mutations in the ATP6V0A4 gene. J Am Soc Nephrol. 2006 May;17(5):1437-43. |
| Disease/Phenotype | Renal tubular acidosis, distal, autosomal recessive |
|---|---|
| Reference transcript | NM_020632.2 |
| DNA Change | c.571C>T |
| A.A. Change | p.Arg191X |
| Exon/Intron | exon 7 |
| Mutation Type | substitution |
| Reference | Vargas-Poussou R, Houillier P, Le Pottier N, Strompf L, Loirat C, Baudouin V, Macher MA, D?chaux M, Ulinski T, Nobili F, Eckart P, Novo R, Cailliez M, Salomon R, Nivet H, Cochat P, Tack I, Fargeot A, Bouissou F, Kesler GR, Lorotte S, Godefroid N, Layet V, Morin G, Jeunema?tre X, Blanchard A.Genetic investigation of autosomal recessive distal renal tubular acidosis: evidence for early sensorineural hearing loss associated with mutations in the ATP6V0A4 gene. J Am Soc Nephrol. 2006 May;17(5):1437-43. |
| Disease/Phenotype | Renal tubular acidosis, distal, autosomal recessive |
|---|---|
| Reference transcript | NM_020632.2 |
| DNA Change | c.828_831delAACA |
| A.A. Change | p.Thr277SerfsX25 |
| Exon/Intron | exon 10 |
| Mutation Type | deletion |
| Reference | Vargas-Poussou R, Houillier P, Le Pottier N, Strompf L, Loirat C, Baudouin V, Macher MA, D?chaux M, Ulinski T, Nobili F, Eckart P, Novo R, Cailliez M, Salomon R, Nivet H, Cochat P, Tack I, Fargeot A, Bouissou F, Kesler GR, Lorotte S, Godefroid N, Layet V, Morin G, Jeunema?tre X, Blanchard A.Genetic investigation of autosomal recessive distal renal tubular acidosis: evidence for early sensorineural hearing loss associated with mutations in the ATP6V0A4 gene. J Am Soc Nephrol. 2006 May;17(5):1437-43. |