Legend
Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
Effect: The variant's effect on the protein's function, in the format Reported/Curator concluded; '+' indicating the variant affects function, '+?' probably affects function, '-' does not affect function, '-?' probably does not affect function, '?' effect unknown, '.' effect not classified.
Exon: Number of exon/intron containing variant; 2 = exon 2, 12i = intron 12, 2i_7i = exons 3 to 7, 8i_9 = border intron 8/exon 9.
DNA change (cDNA): Description of variant at DNA level, based on a coding DNA reference sequence (following HGVS recommendations); e.g. c.123C>T, c.123_145del, c.123_126dup.
RNA change: Description of variant at RNA level (following HGVS recommendations).
- r.123c>u
- r.? = unknown
- r.(?) = RNA not analysed but probably transcribed copy of DNA variant
- r.spl? = RNA not analysed but variant probably affects splicing
- r.(spl?) = RNA not analysed but variant may affect splicing
- r.0? = change expected to abolish transcription
Protein: Description of variant at protein level (following HGVS recommendations).
- p.(Arg345Pro) = change predicted from DNA (RNA not analysed)
- p.Arg345Pro = change derived from RNA analysis
- p.? = unknown effect
- p.0? = probably no protein produced
Allele: On which allele is the variant located? Does not necessarily imply inheritance! 'Paternal' (confirmed or inferred), 'Maternal' (confirmed or inferred), 'Parent #1' or #2 for compound heterozygosity without having screened the parents, 'Unknown' for heterozygosity without having screened the parents, 'Both' for homozygozity.
DNA change (genomic) (hg38): Description of variant at DNA level, based on the genomic DNA reference sequence (following HGVS recommendations).
- g.12345678C>T
- g.12345678_12345890del
- g.12345678_12345890dup
Published as: Variant as originally reported (e.g. 521delT); listed only when different from "DNA change". Variants seen in animal models, tested in vitro, predicted from RNA analysis, etc. are described between brackets like c.(456C>G).
Reference: Reference to publication describing the variant, including links to OMIM (when available), PubMed or or other source, e.g. "den Dunnen ASHG2003 P2346".
DB-ID: Database ID of variant, grouping multiple observations of the same variant together, starting with the HGNC gene symbol, followed by an underscore (_) and a six digit number (e.g. DMD_012345). _000000 is used for variants where DNA was not analysed (change predicted from RNA analysis), variants seen in animal models or variants not seen in humans but functionally tested in vitro.
Frequency: Frequency in which the variant was found; e.g 5/760 chromosomes (in 5 of 760 chromosomes tested), 1/33 patients (in 1 of 33 patients analysed in study), 0.05 controls (in 5% of control cases tested).
Variant remarks: Remarks regarding the variant described, e.g. germline mosaicism in mother, 345 kb deletion, muscle RNA analysed, not in 200 control chromosomes tested, on founder haplotype, etc.
Template: Template(s) used to detect the sequence variant; DNA = genomic DNA, RNA = RNA (cDNA).
All options:
- DNA
- RNA = RNA (cDNA)
- Protein
- ? = unknown
Technique: Technique(s) used to identify the sequence variant.
All options:
- ? = Unknown
- arrayCGH = array for Comparative Genomic Hybridisation
- arraySEQ = array for resequencing
- arraySNP = array for SNP typing
- arrayCNV = array for Copy Number Variation (SNP and CNV probes)
- BESS = Base Excision Sequence Scanning
- CMC = Chemical Mismatch Cleavage
- CSCE = Conformation Sensitive Capillary Electrophoresis
- DGGE = Denaturing-Gradient Gel-Electrophoresis
- DHPLC = Denaturing High-Performance Liquid Chromatography
- DOVAM = Detection Of Virtually All Mutations (SSCA variant)
- ddF = dideoxy Fingerprinting
- DSCA = Double-Strand DNA Conformation Analysis
- EMC = Enzymatic Mismatch Cleavage
- HD = HeteroDuplex analysis
- MCA = high-resolution Melting Curve Analysis (hrMCA)
- IHC = Immuno-Histo-Chemistry
- MAPH = Multiplex Amplifiable Probe Hybridisation
- MLPA = Multiplex Ligation-dependent Probe Amplification
- SEQ-NG = Next-Generation Sequencing
- SEQ-NG-H = Next-Generation Sequencing - Helicos
- SEQ-NG-I = Next-Generation Sequencing - Illumina/Solexa
- SEQ-NG-R = Next-Generation Sequencing - Roche/454
- SEQ-NG-S = Next-Generation Sequencing - SOLiD
- Northern = Northern blotting
- PCR = Polymerase Chain Reaction
- PCRdig = PCR + restriction enzyme digestion
- PCRlr = PCR, long-range
- PCRm = PCR, multiplex
- PCRq = PCR, quantitative
- PAGE = Poly-Acrylamide Gel-Electrophoresis
- PTT = Protein Truncation Test
- PFGE = Pulsed-Field Gel-Electrophoresis (+Southern)
- RT-PCR = Reverse Transcription and PCR
- SEQ = SEQuencing
- SBE = Single Base Extension
- SSCA = Single-Strand DNA Conformation polymorphism Analysis (SSCP)
- SSCAf = SSCA, fluorescent (SSCP)
- Southern = Southern blotting
- TaqMan = TaqMan assay
- Western = Western Blotting
Reference: Reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, including link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346". References in the "Country:City" format indicate that the variant was submitted directly to this database by the laboratory indicated.
Gender: The gender of the reported individual.
All options:
- ? = Unknown
- F = Female
- M = Male
- rF = Raised as female
- rM = Raised as male
Geographic origin: The geographic origin of the individual (country and/or region); Belgium = individual's origin is Belgium, (France) = reported by laboratory in France, individual's origin not sure.
Ethnic origin: The ethnic origin of the individual; e.g. African, Caucasian, gypsy, jew (Ashkenazi).
Remarks: Remarks about the individual.

 Effect
|

 Exon
|

 DNA change (cDNA)
|

 RNA change
|

 Protein
|

 Allele
|

 DNA change (genomic) (hg38)
|

 Published as
|

 Reference
|

 DB-ID
|

 Frequency
|
 Variant remarks
|

 Template
|

 Technique
|

 Disease
|

 Reference
|

 Gender
|

 Geographic origin
|

 Ethnic origin
|
 Remarks
|

 Panel size
|

 Owner
|
+?/+ |
1 |
c.3G>T |
r.(?) |
p.(?) |
Maternal (confirmed) |
g.49950833G>T |
p.(Met1Ile) |
Sahakitrungruang et al. (2008) |
AQP2_000016 |
- |
Variant found in mother and affected child. Not found in 100 control chromosomes. |
DNA |
SEQ |
NDI-AQP2 |
Sahakitrungruang et al. (2008) |
F |
- |
Thai |
Nuclear family with one affected child. |
1 |
LOVD |
+?/+ |
1 |
c.64C>G |
r.(?) |
p.(Leu22Val) |
Maternal (confirmed) |
g.49950894C>G |
- |
Canfield et al. (1997) |
AQP2_000030 |
- |
Variant found in affected individual and her mother; not found in father and 2 unaffected sibs nor in 100 control chromosomes. |
DNA |
SEQ |
NDI-AQP2 |
Canfield et al. (1997) |
F |
- |
Caucasian |
Nuclear family with data on one affected, 2 unaffected offspring, and parents. |
1 |
LOVD |
+?/+ |
1 |
c.71T>C |
r.(?) |
p.(Val24Ala) |
Paternal (inferred) |
g.49950901T>C |
V24A |
Leduc-Nadeau et al. (2010) |
AQP2_000029 |
- |
Variant found in affected individual (II-6); not found in 5 siblings, her son, or her husband. |
DNA |
SEQ |
NDI-AQP2 |
Leduc-Nadeau et al. (2010) |
F |
(Canada) |
- |
3-generation family with data on one affected, 8 unaffected individuals. |
1 |
Dr. Daniel Bichet |
./. |
1 |
c.83T>C |
r.(?) |
p.(Leu28Pro) |
Both (homozygous) |
g.49950913T>C |
- |
Shalev et al. (2004) |
AQP2_000009 |
- |
- |
DNA |
SEQ |
NDI-AQP2 |
Shalev et al. (2004) |
F |
- |
Bedouin |
Arbitrary member of a 4-generation consanguineous family with 9 affected in 5 families in the fourth generation. |
1 |
LOVD |
+?/+ |
1 |
c.85G>A |
r.(?) |
p.(Gly29Ser) |
Paternal (confirmed) |
g.49950915G>A |
- |
Sahakitrungruang et al. (2008) |
AQP2_000017 |
- |
Variant found in father and affected child. Not found in 100 control chromosomes. |
DNA |
SEQ |
NDI-AQP2 |
Sahakitrungruang et al. (2008) |
F |
- |
Thai |
Nuclear family with one affected child. |
1 |
LOVD |
+?/+ |
1 |
c.127_128del |
r.(?) |
p.(Gln43Aspfs*63) |
Paternal (confirmed) |
g.49950957_49950958del |
197, 198 delCA at codon 43 |
Tajima et al. (2003) |
AQP2_000003 |
- |
Variant found in proband and father in heterozygous state. |
DNA |
SEQ |
NDI-AQP2 |
Tajima et al. (2003) |
M |
- |
Japanese |
Member of a nuclear non-consanguineous family with 1 affected and 1 unaffected sibling. |
1 |
LOVD |
+?/+ |
3 |
c.127_128del |
r.(?) |
p.(Gln43Aspfs*63) |
Paternal (confirmed) |
g.49950957_49950958del |
Gln43Aspfs*62 |
Park et al. (2014) |
AQP2_000003 |
- |
Variant found in father and affected child. |
DNA |
SEQ |
NDI-AQP2 |
Park et al. (2014) |
M |
Korea |
- |
Nuclear family with data on one affected child. |
1 |
LOVD |
+?/+ |
1 |
c.170A>C |
r.(?) |
p.(Gln57Pro) |
Paternal (confirmed) |
g.49951000A>C |
- |
Lin et al. (2002) |
AQP2_000042 |
- |
Variant found in father and 2 affected sons; not found in mother and 2 unaffected sons. Not found in >100 control alleles. |
DNA |
SEQ |
NDI-AQP2 |
Lin et al. (2002) |
M |
- |
Chinese |
Nuclear family with 2 affected, 2 unaffected offspring. Not known to be related to Family-2 which carries the same two AQP2 variants. |
1 |
Dr. Daniel Bichet |
+?/+ |
1 |
c.170A>C |
r.(?) |
p.(Gln57Pro) |
Maternal (confirmed) |
g.49951000A>C |
- |
Lin et al. (2002) |
AQP2_000042 |
- |
Variant found in mother and two affected offspring; not found in father, unaffected offspring, or granddaughter. Not found in >100 control alleles. |
DNA |
SEQ |
NDI-AQP2 |
Lin et al. (2002) |
- |
- |
Chinese |
Data on 3-generation family with 2 affected, 1 unaffected offspring. Not known to be related to Family-1 which carries the same two AQP2 variants. |
1 |
Dr. Daniel Bichet |
+?/+ |
1 |
c.190G>A |
r.(?) |
p.(Gly64Arg) |
Both (homozygous) |
g.49951020G>A |
- |
van Lieburg et al. (1994);Deen et al. (1995) |
AQP2_000035 |
- |
Variant found in affected individual and her mother; father not tested. |
DNA |
SEQ |
NDI-AQP2 |
van Lieburg et al. (1994);Deen et al. (1995) |
F |
- |
Italian |
4-generation consanguineous family with data on affected individual and mother. |
1 |
LOVD |
+?/+ |
1 |
c.209C>A |
r.(?) |
p.(Ala70Asp) |
Paternal (confirmed) |
g.49951039C>A |
- |
Cheong et al. (2005) |
AQP2_000013 |
- |
Variant found in father and affected child. |
DNA |
SEQ |
NDI-AQP2 |
Cheong et al. (2005) |
F |
Korea |
- |
Nuclear family with one affected child. |
1 |
LOVD |
+?/+ |
1 |
c.211G>A |
r.(?) |
p.(Val71Met) |
Both (homozygous) |
g.49951041G>A |
GTG-to-ATG in codon 71 |
Bichet et al. (2012) |
AQP2_000007 |
- |
Variant found homozygous in 2 affected girls and heterozygous in both unaffected parents and one unaffected son. |
DNA |
SEQ |
NDI-AQP2 |
Langley et al. (1991), Bichet et al. (2012) |
F |
- |
Pakastani |
Member of a 4-generation family with data on 5 individuals (2 affected, 3 unaffected) with consanguinity. Parents are first cousins. |
1 |
Dr. Daniel Bichet |
+?/+ |
1 |
c.211G>A |
r.(?) |
p.(Val71Met) |
Both (homozygous) |
g.49951041G>A |
GTG-to-ATG in codon 71 |
Bichet et al. (2012) |
AQP2_000007 |
- |
Variant found homozygous in 2 affected brothers; heterozygous in both unaffected parents and the unaffected maternal grandfather. |
DNA |
SEQ |
NDI-AQP2 |
Bichet et al. (2012) |
M |
- |
Pakastani |
Member of 3-generation family with data on 6 individuals (2 affected, 4 unaffected). |
1 |
Dr. Daniel Bichet |
+?/+ |
1 |
c.211G>A |
r.(?) |
p.(Val71Met) |
Both (homozygous) |
g.49951041G>A |
GTG-to-ATG in codon 71 |
Bichet et al. (2012) |
AQP2_000007 |
- |
Variant homozygous in affected son, heterozygous in both unaffected parents. |
DNA |
SEQ |
NDI-AQP2 |
Bichet et al. (2012) |
M |
- |
Pakastani |
Member in a 3-generation family with data on 3 individuals (1 affected son and both unaffected parents) with consanguinity. |
1 |
Dr. Daniel Bichet |
+?/+ |
1 |
c.253C>T |
r.(?) |
p.(Arg85*) |
Unknown |
g.49951083C>T |
- |
Bircan et al. (2008) |
AQP2_000002 |
- |
Variant identified in heterozygous state in both parents and proband was homozygous for the variant. |
DNA |
SEQ |
NDI-AQP2 |
Bircan et al. (2008) |
M |
- |
- |
Nuclear non-consanguineous family with one affected child. |
1 |
LOVD |
+?/+ |
1 |
c.253C>T |
r.(?) |
p.(Arg85*) |
Both (homozygous) |
g.49951083C>T |
- |
Vargas-Poussou et al. (1997) |
AQP2_000002 |
- |
Mother heterozygous; father not tested |
DNA |
SEQ |
NDI-AQP2 |
Vargas-Poussou et al. (1997) |
F |
- |
Turkish |
Member of a 5-generation consanguineous family with one affected individual. |
1 |
LOVD |
+?/+ |
1 |
c.287G>A |
r.(?) |
p.(Gly96Glu) |
Both (homozygous) |
g.49951117G>A |
- |
Rugpolmuang et al. (2014) |
AQP2_000018 |
- |
Variant found in affected child and heterozygous is father and mother. Not found in 100 control chromosomes |
DNA |
SEQ |
NDI-AQP2 |
Rugpolmuang et al. (2014) |
M |
- |
Asian |
Affected child of first-cousin mating. |
1 |
LOVD |
+?/+ |
1 |
c.298G>A |
r.(?) |
p.(Gly100Arg) |
Both (homozygous) |
g.49951128G>A |
- |
Carroll et al. (2006) |
AQP2_000011 |
- |
The 3 affected individuals were homozygous, the parents and the unaffected male were heterozygous. Variant not found in 100 control chromosomes. |
DNA |
SEQ |
NDI-AQP2 |
Carroll et al. (2006) |
- |
Saudi Arabia |
- |
Nuclear consanguineous family with 2 unaffected parents, 3 affected (one female, 2 male), and one unaffected offspring. |
1 |
LOVD |
+?/+ |
1 |
c.298G>A |
r.(?) |
p.(Gly100Arg) |
Paternal (confirmed) |
g.49951128G>A |
- |
Tsutsumi et al. (2009) |
AQP2_000011 |
- |
Variant found in father and 2 affected children. |
DNA |
SEQ |
NDI-AQP2 |
Tsutsumi et al. (2009) |
F |
(Japan) |
- |
Nuclear family with 2 affected children. |
1 |
LOVD |
+?/+ |
1 |
c.298G>T |
r.(?) |
p.(Gly100*) |
Both (homozygous) |
g.49951128G>T |
- |
Hochberg et al. (1997) |
AQP2_000041 |
- |
Variant found homozygous in 5 affected individuals in 4 sibships and heterozygous in their parents. |
DNA |
SEQ |
NDI-AQP2 |
Hochberg et al. (1997) |
F |
- |
Arab-Bedouin |
Member of a 7-generation family with data on 5 affected individuals and their parents. Parents of proband are first cousins. Possibly shared common ancestor to 3 families (G, H, K) in Hochberg et al. (1997). |
1 |
LOVD |
+?/+ |
1 |
c.298G>T |
r.(?) |
p.(Gly100*) |
Both (homozygous) |
g.49951128G>T |
- |
Hochberg et al. (1997) |
AQP2_000041 |
- |
Variant found homozygous in 3 affected individuals in 3 sibships and heterozygous in their parents. |
DNA |
SEQ |
NDI-AQP2 |
Hochberg et al. (1997) |
F |
- |
Arab-Bedouin |
Member of 7-generation consanguineous family with data on 3 affected individuals and their parents. Possibly shared common ancestor to 3 families (G, H, K) in Hochberg et al. (1997). |
1 |
LOVD |
+?/+ |
1 |
c.298G>T |
r.(?) |
p.(Gly100*) |
Both (homozygous) |
g.49951128G>T |
- |
Hochberg et al. (1997) |
AQP2_000041 |
- |
Variant found homozygous in 3 affected siblings and heterozygous in their parents. |
DNA |
SSCA |
NDI-AQP2 |
Hochberg et al. (1997) |
- |
- |
Arab-Bedouin |
7-generation family with 6 affected individuals (3 deceased). Possibly shared common ancestor to 3 families (G, H, K) in Hochberg et al. (1997). |
1 |
LOVD |
+?/+ |
1 |
c.299G>T |
r.(?) |
p.(Gly100Val) |
Maternal (confirmed) |
g.49951129G>T |
- |
Lin et al. (2002) |
AQP2_000043 |
- |
Variant found in mother, 2 affected sons, and 2 unaffected sons; not found in father nor in >100 control alleles. |
DNA |
SEQ |
NDI-AQP2 |
Lin et al. (2002) |
M |
- |
Chinese |
Nuclear family with 2 affected, 2 unaffected offspring. Not known to be related to Family-2 which carries the same two AQP2 variants. |
1 |
Dr. Daniel Bichet |
+?/+ |
1 |
c.299G>T |
r.(?) |
p.(Gly100Val) |
Paternal (confirmed) |
g.49951129G>T |
- |
Lin et al. (2002) |
AQP2_000043 |
- |
Variant found in father, 2 affected offspring, & in granddaughter; not found in mother and unaffected offspring. Not found in >100 control alleles. |
DNA |
SEQ |
NDI-AQP2 |
Lin et al. (2002) |
- |
- |
Chinese |
Data on 3-generation family with 2 affected, 1 unaffected offspring. Not known to be related to Family-1 which carries the same two AQP2 variants. |
1 |
Dr. Daniel Bichet |
+?/+ |
1 |
c.323C>T |
r.(?) |
p.(Thr108Met) |
Maternal (confirmed) |
g.49951153C>T |
- |
Park et al. (2014) |
AQP2_000015 |
- |
Variant found in mother and affected child. |
DNA |
SEQ |
NDI-AQP2 |
Park et al. (2014) |
M |
Korea |
- |
Nuclear family with data on one affected child. |
1 |
LOVD |
+?/+ |
2 |
c.369del |
r.(?) |
p.(Asn123Lysfs*9) |
Both (homozygous) |
g.49954163del |
- |
van Lieburg et al. (1994);Deen et al. (1995) |
AQP2_000036 |
- |
Variant found in affected individual, 3-of-4 unaffected siblings, and in both parents. |
DNA |
SEQ |
NDI-AQP2 |
van Lieburg et al. (1994);Deen et al. (1995) |
M |
- |
Palestinian |
4-generation consanguineous family with data on one affected individual, 4 unaffected siblings, and their parents. |
1 |
LOVD |
+?/+ |
2 |
c.374C>T |
r.(?) |
p.(Thr125Met) |
Maternal (confirmed) |
g.49954168C>T |
- |
Tsutsumi et al. (2009) |
AQP2_000023 |
- |
Variant found in mother and 2 affected children. |
DNA |
SEQ |
NDI-AQP2 |
Tsutsumi et al. (2009) |
F |
(Japan) |
- |
Nuclear family with 2 affected children. |
1 |
LOVD |
+?/+ |
2 |
c.374C>T |
r.(?) |
p.(Thr125Met) |
Paternal (confirmed) |
g.49954168C>T |
- |
Goji et al. (1998);Kuwahara (1998) |
AQP2_000023 |
- |
Variant found in both affected children and their father, not in mother. |
DNA |
SEQ |
NDI-AQP2 |
Goji et al. (1998);Kuwahara (1998) |
F |
- |
Japanese |
Nuclear family with 2 affected offspring. |
1 |
LOVD |
+?/+ |
1 |
c.377C>T |
r.(?) |
p.(Thr126Met) |
Both (homozygous) |
g.49954171C>T |
- |
Rugpolmuang et al. (2014) |
AQP2_000019 |
- |
Variant found homozygous in father and affected child; mother not tested. Not found in 100 control chromosomes. |
DNA |
SEQ |
NDI-AQP2 |
Rugpolmuang et al. (2014) |
F |
- |
Asian |
Two affected children in mating of first cousins. Father and two siblings affected. |
1 |
LOVD |
+?/+ |
2 |
c.410T>C |
r.(?) |
p.(Leu137Pro) |
Both (homozygous) |
g.49954204T>C |
- |
Duzenli et al. (2012) |
AQP2_000001 |
- |
Variant may cause severe disease as patient was the most severely affected among 15 patients. |
DNA |
SEQ |
NDI-AQP2 |
Duzenli et al. (2012) |
M |
- |
Turkish |
One of 15 Turkish patients with nephrogenic or neurohypophyseal DI. |
1 |
LOVD |
+?/+ |
2 |
c.439G>A |
r.(?) |
p.(Ala147Thr) |
Both (homozygous) |
g.49954233G>A |
GCC>ACC |
Pasel et al. (2000) |
AQP2_000008 |
- |
One of 8 families studied; only one with AQP2 mutation, the others had AVPR2 mutations. |
DNA |
SEQ |
NDI-AQP2 |
Pasel et al. (2000) |
F |
- |
Turkish |
Nuclear consanguineous family with one affected and 2 unknown offspring. |
1 |
LOVD |
+?/+ |
2 |
c.450T>A |
r.(?) |
p.(Asp150Glu) |
Paternal (confirmed) |
g.49954244T>A |
- |
Iolascon et al. (2007) |
AQP2_000024 |
- |
Variant found in father and affected child. Not found in older brother nor in 100 control chromosomes. |
DNA |
SEQ |
NDI-AQP2 |
Iolascon et al. (2007) |
M |
(Italy) |
- |
Nuclear family with one affected, one unaffected child. |
1 |
LOVD |
+?/+ |
2 |
c.450T>A |
r.(?) |
p.(Asp150Glu) |
Paternal (confirmed) |
g.49954244T>A |
D150E |
Guyon et al. (2009) |
AQP2_000024 |
- |
Variant found in father, paternal uncle, paternal grandfather, and all 3 affected children. |
DNA |
SEQ |
NDI-AQP2 |
Guyon et al. (2009) |
M |
(Canada) |
- |
3-generation family with data on 3 affected males (including one pair of twins) and 9 unaffected individuals. |
1 |
Dr. Daniel Bichet |
-/- |
2 |
c.501T>C |
r.(=) |
p.(=) |
Unknown |
g.49954295T>C |
- |
Boccalandro et al. (2004) |
AQP2_000006 |
- |
None of the individuals in the NDI family had the variant. Of about 200 individuals, 30% were heterozygous and 1% was homozygous for the variant. |
DNA |
SEQ |
Healthy/Control |
Boccalandro et al. (2004) |
- |
- |
Hispanic |
One sib from each family in town in northeast of Monterrey, Mexico was sampled (about 200 individuals). |
1 |
LOVD |
-?/- |
2 |
c.501T>C |
r.(=) |
p.(=) |
Unknown |
g.49954295T>C |
TCT>TCC in codon 167 |
Rocha et al. (1999) |
AQP2_000006 |
- |
Variant found in proband; did not cosegregate with disease among 46 Brazilian individuals. 19 of 46 samples including affected and unaffected individuals from 3 families and unrelated normal volunteers were heterozygous for the variant, 13 individuals were homozygous for the variant (0.77 allele frequency) |
DNA |
SEQ |
NDI-AVPR2 |
Rocha et al. (1999) |
M |
- |
Portuguese/African/native Brazilian |
Member of a nuclear family with nephrogenic DI with data on 7 individuals (1 affected, 6 unaffected). |
1 |
LOVD |
-/- |
2 |
c.501T>C |
r.(=) |
p.(=) |
Unknown |
g.49954295T>C |
c.697C>G |
Liberatore et al. (2012) |
AQP2_000006 |
- |
A previously described polymorphism. |
DNA |
SEQ |
NDI-AQP2 |
Liberatore et al. (2012) |
F |
- |
Brazilian |
Nuclear family with one affected and one unaffected child. |
1 |
LOVD |
-?/- |
2 |
c.501T>C |
r.(=) |
p.(=) |
Paternal (confirmed) |
g.49954295T>C |
S167S |
Guyon et al. (2009) |
AQP2_000006 |
- |
Variant found in father, paternal uncle, paternal grandfather, and 3 affected children. |
DNA |
SEQ |
NDI-AQP2 |
Guyon et al. (2009) |
M |
(Canada) |
- |
3-generation family with data on 3 affected males (including one pair of twins) and 9 unaffected individuals. |
1 |
Dr. Daniel Bichet |
+?/+ |
2 |
c.502G>A |
r.(?) |
p.(Val168Met) |
Both (homozygous) |
g.49954296G>A |
- |
Boccalandro et al. (2004) |
AQP2_000005 |
- |
Variant was homozygous in 4 affected individuals, heterozygous in 14 unaffected individuals and not found in 7 individuals. Variant not found in 31 white and 29 Hispanic individuals from the Houston, Texas area. Sampling of one sib of each family in town (population 2078 in 2000 census) found two undiagnosed homozygous individuals (1%) and 30% heterozygous for the variant giving an estimate of 15.8% for the variant. |
DNA |
SEQ |
NDI-AQP2 |
Boccalandro et al. (2004) |
M |
- |
Mexican |
Member of a 4-generation family with 25 individuals (4 affected, 21 unaffected) from a small town northeast of Monterrey, Mexico. |
1 |
LOVD |
+?/+ |
2 |
c.502G>A |
r.(?) |
p.(Val168Met) |
Maternal (confirmed) |
g.49954296G>A |
- |
Vargas-Poussou et al. (1997) |
AQP2_000005 |
- |
- |
DNA |
SEQ |
NDI-AQP2 |
Vargas-Poussou et al. (1997) |
M |
Europe |
Caucasian |
Nuclear family with one affected, one unaffected offspring. |
1 |
LOVD |
+?/+ |
2 |
c.523G>A |
r.(?) |
p.(Gly175Arg) |
Maternal (confirmed) |
g.49954317G>A |
- |
Goji et al. (1998);Kuwahara (1998) |
AQP2_000037 |
- |
Variant found in both affected children and in their mother, not in father. |
DNA |
SEQ |
NDI-AQP2 |
Goji et al. (1998);Kuwahara (1998) |
F |
- |
Japanese |
Nuclear family with 2 affected offspring. |
1 |
LOVD |
+?/+ |
3 |
c.538G>A |
r.(?) |
p.(Gly180Ser) |
Both (homozygous) |
g.49954642G>A |
c.537G>A |
Carroll et al. (2006) |
AQP2_000012 |
- |
The affected individual was homozygous; the parents were heterozygous. Variant not found in 100 control chromosomes. |
DNA |
SEQ |
NDI-AQP2 |
Carroll et al. (2006) |
M |
Saudi Arabia |
- |
Nuclear family with 2 unaffected parents and 1 unaffected male offspring. |
1 |
LOVD |
+?/+ |
3 |
c.543C>G |
r.(?) |
p.(Cys181Trp) |
Paternal (confirmed) |
g.49954647C>G |
- |
Canfield et al. (1997) |
AQP2_000031 |
- |
Variant found in affected individual, father, and one unaffected sibling; not found in 100 control chromosomes. |
DNA |
SEQ |
NDI-AQP2 |
Canfield et al. (1997) |
F |
- |
Caucasian |
Nuclear family with data on one affected, 2 unaffected offspring, and parents. |
1 |
LOVD |
+?/+ |
3 |
c.559C>T |
r.(?) |
p.(Arg187Cys) |
Maternal (confirmed) |
g.49954663C>T |
R187C |
Leduc-Nadeau et al. (2010) |
AQP2_000028 |
- |
Variant found in mother, unaffected son, and 2 affected sons. |
DNA |
SEQ |
NDI-AQP2 |
Leduc-Nadeau et al. (2010) |
M |
(Canada) |
- |
Nuclear family with two affected, one unaffected children. |
1 |
Dr. Daniel Bichet |
+?/+ |
3 |
c.559C>T |
r.(?) |
p.(Arg187Cys) |
Maternal (confirmed) |
g.49954663C>T |
R187C |
Leduc-Nadeau et al. (2010) |
AQP2_000028 |
- |
Variant found in affected individual (II-6), her son, two siblings, and her mother; not found in 3 siblings of II-6 or her husband. |
DNA |
SEQ |
NDI-AQP2 |
Leduc-Nadeau et al. (2010) |
F |
(Canada) |
- |
3-generation family with data on one affected, 8 unaffected individuals. |
1 |
Dr. Daniel Bichet |
+?/+ |
3 |
c.559C>T |
r.(?) |
p.(Arg187Cys) |
Paternal (confirmed) |
g.49954663C>T |
- |
Deen et al. (1994);Deen et al. (1995) |
AQP2_000028 |
- |
Variant found in affected individual and father, not in 2 unaffected siblings or mother. Not found in 4 control chromosomes. |
DNA |
SEQ |
NDI-AQP2 |
Deen et al. (1994);Deen et al. (1995) |
M |
(Netherlands) |
- |
Nuclear family with one affected and 2 unaffected offspring. |
1 |
LOVD |
+?/+ |
2 |
c.559C>T |
r.(?) |
p.(Arg187Cys) |
Paternal (inferred) |
g.49954663C>T |
- |
de Mattia et al. (2004) |
AQP2_000028 |
- |
Variant found in affected individual; not found in sibling, mother, or maternal cousin. |
DNA |
SEQ |
NDI-AQP2 |
de Mattia et al. (2004) |
F |
- |
- |
3-generation family with data on one affected, 3 unaffected individuals. |
1 |
Dr. Daniel Bichet |
+?/+ |
3 |
c.559C>T |
r.(?) |
p.(Arg187Cys) |
Both (homozygous) |
g.49954663C>T |
- |
van Lieburg et al. (1994);Deen et al. (1995) |
AQP2_000028 |
- |
Variant found homozygous in affected individual and heterozygous in mother; father not tested. |
DNA |
SEQ |
NDI-AQP2 |
van Lieburg et al. (1994);Deen et al. (1995) |
M |
- |
Dutch |
5-generation consanguineous family with data on one affected individual, his mother, and a sibling. |
1 |
LOVD |
+?/+ |
3 |
c.560G>A |
r.(?) |
p.(Arg187His) |
Maternal (confirmed) |
g.49954664G>A |
- |
Cheong et al. (2005) |
AQP2_000014 |
- |
Variant found in mother and affected child. |
DNA |
SEQ |
NDI-AQP2 |
Cheong et al. (2005) |
F |
Korea |
- |
Nuclear family with one affected child. |
1 |
LOVD |
+?/+ |
3 |
c.568G>A |
r.(?) |
p.(Ala190Thr) |
Paternal (confirmed) |
g.49954672G>A |
- |
de Mattia et al. (2004 |
AQP2_000032 |
- |
Variant found in affected individual and his father; not in unaffected sibling, mother, or maternal uncle. |
DNA |
SEQ |
NDI-AQP2 |
de Mattia et al. (2004) |
M |
- |
- |
3-generation family with data on one affected and 4 unaffected individuals. |
1 |
Dr. Daniel Bichet |
+?/+ |
1 |
c.568G>A |
r.(?) |
p.(Ala190Thr) |
Paternal (confirmed) |
g.49954672G>A |
- |
Kuwahara (1998) |
AQP2_000032 |
- |
Variant found in affected child and his father, not in mother. |
DNA |
SEQ |
NDI-AQP2 |
Kuwahara (1998) |
M |
(Japan) |
- |
Nuclear family with one affected individual. |
1 |
LOVD |
+?/+ |
3 |
c.587G>A |
r.(?) |
p.(Gly196Asp) |
Maternal (confirmed) |
g.49954691G>A |
G196D |
Guyon et al. (2009) |
AQP2_000026 |
- |
Variant found in mother, maternal grandmother, and 3 affected children. |
DNA |
SEQ |
NDI-AQP2 |
Guyon et al. (2009) |
M |
(Canada) |
- |
3-generation family with data on 3 affected males (including one pair of twins) and 9 unaffected individuals. |
1 |
Dr. Daniel Bichet |
+?/+ |
3 |
c.601C>T |
r.(?) |
p.(His201Tyr) |
Maternal (confirmed) |
g.49954705C>T |
- |
Liberatore et al. (2012) |
AQP2_000020 |
- |
Variant found in mother and affected child. |
DNA |
SEQ |
NDI-AQP2 |
Liberatore et al. (2012) |
F |
- |
Brazilian |
Nuclear family with one affected and one unaffected child. |
1 |
LOVD |
+?/+ |
i3 |
c.607-1G>A |
r.(spl?) |
p.(?) |
Maternal (confirmed) |
g.49955398G>A |
1502-1G>A in intron 3 of the terminal exon splicing junction |
Tajima et al. (2003) |
AQP2_000004 |
- |
Variant found in proband and mother in heterozygous state. |
DNA |
SEQ |
NDI-AQP2 |
Tajima et al. (2003) |
M |
- |
Japanese |
Member of a nuclear non-consanguineous family with 1 affected and 1 unaffected sibling. |
1 |
LOVD |
+?/+ |
4 |
c.631G>C |
r.(?) |
p.(Gly211Arg) |
Paternal (confirmed) |
g.49955423G>C |
c.697C>G |
Liberatore et al. (2012) |
AQP2_000021 |
- |
Variant found in father and affected child. |
DNA |
SEQ |
NDI-AQP2 |
Liberatore et al. (2012) |
F |
- |
Brazilian |
Nuclear family with one affected and one unaffected child. |
1 |
LOVD |
+?/+ |
4 |
c.643G>T |
r.(?) |
p.(Gly215Cys) |
Maternal (confirmed) |
g.49955435G>T |
- |
Iolascon et al. (2007) |
AQP2_000025 |
- |
Variant found in mother and affected child. Not found in older brother nor in 100 control chromosomes. |
DNA |
SEQ |
NDI-AQP2 |
Iolascon et al. (2007) |
M |
(Italy) |
- |
Nuclear family with one affected, one unaffected child. |
1 |
LOVD |
+?/+ |
4 |
c.646T>C |
r.(?) |
p.(Ser216Pro) |
Paternal (inferred) |
g.49955438T>C |
- |
Vargas-Poussou et al. (1997) |
AQP2_000010 |
- |
Variant not detected in the father. Assume de novo mutation. |
DNA |
SEQ |
NDI-AQP2 |
Vargas-Poussou et al. (1997) |
M |
Europe |
Caucasian |
Nuclear family with one affected, one unaffected offspring. |
1 |
LOVD |
+?/+ |
4 |
c.646T>C |
r.(?) |
p.(Ser216Pro) |
Maternal (confirmed) |
g.49955438T>C |
- |
Deen et al. (1994);Deen et al. (1995) |
AQP2_000010 |
- |
Variant found in affected individual, one sibling and mother; not found in father and 2 unaffected siblings. Not found in 4 control chromosomes. |
DNA |
SEQ |
NDI-AQP2 |
Deen et al. (1994);Deen et al. (1995) |
M |
(Netherlands) |
- |
Nuclear family with one affected and 2 unaffected offspring. |
1 |
LOVD |
+?/+ |
4 |
c.647C>T |
r.(?) |
p.(Ser216Phe) |
Unknown |
g.49955439C>T |
- |
Moon et al. (2009) |
AQP2_000022 |
- |
Variant found in affected individual; no data on parents. Could be a sporadic case (new mutation). No data to on parents to support autosomal dominant inheritance. |
DNA |
SEQ |
NDI-AQP2 |
Moon et al. (2009) |
M |
(Korea) |
- |
Isolated case. No data to confirm autosomal inheritance or lack of detection of a second AQP2 mutation. |
1 |
LOVD |
+?/+ |
4 |
c.682A>G |
r.(?) |
p.(Lys228Glu) |
Paternal (confirmed) |
g.49955474A>G |
K228E |
Leduc-Nadeau et al. (2010) |
AQP2_000027 |
- |
Variant found in father and 2 affected sons. |
DNA |
SEQ |
NDI-AQP2 |
Leduc-Nadeau et al. (2010) |
M |
(Canada) |
- |
Nuclear family with two affected, one unaffected children. |
1 |
Dr. Daniel Bichet |
+?/+ |
4 |
c.721del |
r.(?) |
p.(Glu241Serfs*94) |
Maternal (confirmed) |
g.49955513del |
- |
Kuwahara et al. (2001);Ohzeki et al. (1984) |
AQP2_000038 |
- |
Variant found in 3 affected individuals; not found in unaffected mom. |
DNA |
SEQ |
NDI-AQP2 |
Kuwahara et al. (2001);Ohzeki et al. (1984) |
M |
- |
Japanese |
Member of a 4-generation family with data on 3 affected and 1 unaffected individual. |
1 |
LOVD |
+?/+ |
4 |
c.761G>T |
r.(?) |
p.(Arg254Leu) |
Paternal (inferred) |
g.49955553G>T |
- |
de Mattia et al. (2005) |
AQP2_000034 |
- |
Variant found in affected individual; not in mother, father not tested. Not found in >160 control chromosomes. |
DNA |
SEQ |
NDI-AQP2 |
de Mattia et al. (2005) |
M |
(Netherlands) |
- |
Nuclear family with one affected offspring with deceased affected father. |
1 |
LOVD |
+?/+ |
4 |
c.763_772del |
r.(?) |
p.(Gln255Serfs*77) |
Unknown |
g.49955555_49955564del |
- |
Kuwahara et al. (2001) |
AQP2_000039 |
- |
Variant found in affected child but in neither of her parents. |
DNA |
SEQ |
NDI-AQP2 |
Kuwahara et al. (2001) |
F |
- |
Japanese |
Nuclear family with data on 1 affected and her parents. |
1 |
LOVD |
+?/+ |
4 |
c.785C>T |
r.(?) |
p.(Pro262Leu) |
Maternal (confirmed) |
g.49955577C>T |
- |
de Mattia et al. (2004) |
AQP2_000033 |
- |
Variant found in affected individual, mother, and maternal uncle, not found in unaffected sibling or father. |
DNA |
SEQ |
NDI-AQP2 |
de Mattia et al. (2004) |
M |
- |
- |
3-generation family with data on one affected and 4 unaffected individuals. |
1 |
Dr. Daniel Bichet |
+?/+ |
4 |
c.785C>T |
r.(?) |
p.(Pro262Leu) |
Maternal (confirmed) |
g.49955577C>T |
- |
de Mattia et al. (2004) |
AQP2_000033 |
- |
Variant found in affected individual, her mother, and maternal cousin; not found in unaffected sibling. |
DNA |
SEQ |
NDI-AQP2 |
de Mattia et al. (2004) |
F |
- |
- |
3-generation family with data on one affected, 3 unaffected individuals. |
1 |
Dr. Daniel Bichet |
+?/+ |
2 |
c.785C>T |
r.(?) |
p.(Pro262Leu) |
Maternal (confirmed) |
g.49955577C>T |
- |
Kuwahara (1998) |
AQP2_000033 |
- |
Variant found in affected child and his mother, not in father. |
DNA |
SEQ |
NDI-AQP2 |
Kuwahara (1998) |
M |
(Japan) |
- |
Nuclear family with one affected individual. |
1 |
LOVD |
+?/+ |
4 |
c.812_*2del |
r.(?) |
p.(Ala271delins66aa) |
Unknown |
g.49955604_49955610del |
- |
Kuwahara et al. (2001) |
AQP2_000040 |
- |
Variant found in affected individual; not in his parents or his brother. |
DNA |
SEQ |
NDI-AQP2 |
- |
M |
- |
Japanese |
Member of a 4-generation family with data on one affected individual, his parents and brother. |
1 |
LOVD |