OMIM: 267300Inheritance: Autosomal recessive
Classification: Diseases of the genitourinary system
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | ATP6V1B1 |
|---|
| Dna Change: | 229+1G>T (IVS7+1G>T) |
|---|
| Protein Change: | |
|---|
| Mutation Type: | Substitution |
|---|
| Mutation Effect: | Splice site |
|---|
| Location: | intron 7 |
|---|
| Transcript: | |
|---|
| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
|---|
| Cyprus | NA | NA | NA | older than 400 years | Elia A et al., 2011Elia A, Voskarides K, Demosthenous P, Michalopoulou A, Malliarou MA, Georgaki E, Athanasiou Y, Patsias C, Pierides A, Deltas C, . Founder mutations in the ATP6V1B1 gene explain most Cypriot cases of distal renal tubular acidosis: first prenatal diagnosis.. Nephron Clin Pract. 2011; 117(3):c206-12 |
| Gene/Locus: | ATP6V1B1 |
|---|
| Dna Change: | c.469C>T |
|---|
| Protein Change: | p.Arg157Cys |
|---|
| Mutation Type: | Substitution |
|---|
| Mutation Effect: | Missense |
|---|
| Location: | exon 6 |
|---|
| Transcript: | NM_001692.3 |
|---|
| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
|---|
| Cyprus | NA | NA | NA | NA | Elia A et al., 2011Elia A, Voskarides K, Demosthenous P, Michalopoulou A, Malliarou MA, Georgaki E, Athanasiou Y, Patsias C, Pierides A, Deltas C, . Founder mutations in the ATP6V1B1 gene explain most Cypriot cases of distal renal tubular acidosis: first prenatal diagnosis.. Nephron Clin Pract. 2011; 117(3):c206-12 |
| Gene/Locus: | ATP6V1B1 |
|---|
| Dna Change: | c.387C>A |
|---|
| Protein Change: | p.Tyr129X |
|---|
| Mutation Type: | Substitution |
|---|
| Mutation Effect: | Nonsense |
|---|
| Location: | exon 5 |
|---|
| Transcript: | NM_001692.3 |
|---|
| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
|---|
| Algeria | NA | NA | 6 patients /8 patients | NA | Vargas-Poussou R et al., 2006Vargas-Poussou R, Houillier P, Le Pottier N, Strompf L, Loirat C, Baudouin V, Macher MA, Déchaux 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, Jeunemaître 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; 17(5):1437-43 |
| Morocco | NA | NA | 1 patients/5 patients | NA | Vargas-Poussou R et al., 2006Vargas-Poussou R, Houillier P, Le Pottier N, Strompf L, Loirat C, Baudouin V, Macher MA, Déchaux 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, Jeunemaître 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; 17(5):1437-43 |
References
Elia A, Voskarides K, Demosthenous P, Michalopoulou A, Malliarou MA, Georgaki E, Athanasiou Y, Patsias C, Pierides A, Deltas C, Founder mutations in the ATP6V1B1 gene explain most Cypriot cases of distal renal tubular acidosis: first prenatal diagnosis.Nephron Clin Pract. 2011; 117(3):c206-12
Vargas-Poussou R, Houillier P, Le Pottier N, Strompf L, Loirat C, Baudouin V, Macher MA, Déchaux 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, Jeunemaître 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; 17(5):1437-43