View all transcript variants in gene AQP2

Information The variants shown are described using the NM_000486.5 transcript reference sequence.

66 entries on 1 page. Showing entries 1 - 66.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg38)     

Published as     

Reference     

DB-ID     

Frequency     

Variant remarks     

Owner     
+?/+ 1 c.3G>T r.(?) p.(?) g.49950833G>T p.(Met1Ile) Sahakitrungruang et al. (2008) AQP2_000016 - Variant found in mother and affected child. Not found in 100 control chromosomes. LOVD
+?/+ 1 c.64C>G r.(?) p.(Leu22Val) 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. LOVD
+?/+ 1 c.71T>C r.(?) p.(Val24Ala) 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. Dr. Daniel Bichet
./. 1 c.83T>C r.(?) p.(Leu28Pro) g.49950913T>C - Shalev et al. (2004) AQP2_000009 - - LOVD
+?/+ 1 c.85G>A r.(?) p.(Gly29Ser) g.49950915G>A - Sahakitrungruang et al. (2008) AQP2_000017 - Variant found in father and affected child. Not found in 100 control chromosomes. LOVD
+?/+ 1 c.127_128del r.(?) p.(Gln43Aspfs*63) g.49950957_49950958del 197, 198 delCA at codon 43 Tajima et al. (2003) AQP2_000003 - Variant found in proband and father in heterozygous state. LOVD
+?/+ 3 c.127_128del r.(?) p.(Gln43Aspfs*63) g.49950957_49950958del Gln43Aspfs*62 Park et al. (2014) AQP2_000003 - Variant found in father and affected child. LOVD
+?/+ 1 c.170A>C r.(?) p.(Gln57Pro) 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. Dr. Daniel Bichet
+?/+ 1 c.170A>C r.(?) p.(Gln57Pro) 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. Dr. Daniel Bichet
+?/+ 1 c.190G>A r.(?) p.(Gly64Arg) 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. LOVD
+?/+ 1 c.209C>A r.(?) p.(Ala70Asp) g.49951039C>A - Cheong et al. (2005) AQP2_000013 - Variant found in father and affected child. LOVD
+?/+ 1 c.211G>A r.(?) p.(Val71Met) 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. Dr. Daniel Bichet
+?/+ 1 c.211G>A r.(?) p.(Val71Met) 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. Dr. Daniel Bichet
+?/+ 1 c.211G>A r.(?) p.(Val71Met) 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. Dr. Daniel Bichet
+?/+ 1 c.253C>T r.(?) p.(Arg85*) g.49951083C>T - Bircan et al. (2008) AQP2_000002 - Variant identified in heterozygous state in both parents and proband was homozygous for the variant. LOVD
+?/+ 1 c.253C>T r.(?) p.(Arg85*) g.49951083C>T - Vargas-Poussou et al. (1997) AQP2_000002 - Mother heterozygous; father not tested LOVD
+?/+ 1 c.287G>A r.(?) p.(Gly96Glu) 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 LOVD
+?/+ 1 c.298G>A r.(?) p.(Gly100Arg) 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. LOVD
+?/+ 1 c.298G>A r.(?) p.(Gly100Arg) g.49951128G>A - Tsutsumi et al. (2009) AQP2_000011 - Variant found in father and 2 affected children. LOVD
+?/+ 1 c.298G>T r.(?) p.(Gly100*) g.49951128G>T - Hochberg et al. (1997) AQP2_000041 - Variant found homozygous in 5 affected individuals in 4 sibships and heterozygous in their parents. LOVD
+?/+ 1 c.298G>T r.(?) p.(Gly100*) g.49951128G>T - Hochberg et al. (1997) AQP2_000041 - Variant found homozygous in 3 affected individuals in 3 sibships and heterozygous in their parents. LOVD
+?/+ 1 c.298G>T r.(?) p.(Gly100*) g.49951128G>T - Hochberg et al. (1997) AQP2_000041 - Variant found homozygous in 3 affected siblings and heterozygous in their parents. LOVD
+?/+ 1 c.299G>T r.(?) p.(Gly100Val) 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. Dr. Daniel Bichet
+?/+ 1 c.299G>T r.(?) p.(Gly100Val) 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. Dr. Daniel Bichet
+?/+ 1 c.323C>T r.(?) p.(Thr108Met) g.49951153C>T - Park et al. (2014) AQP2_000015 - Variant found in mother and affected child. LOVD
+?/+ 2 c.369del r.(?) p.(Asn123Lysfs*9) 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. LOVD
+?/+ 2 c.374C>T r.(?) p.(Thr125Met) g.49954168C>T - Tsutsumi et al. (2009) AQP2_000023 - Variant found in mother and 2 affected children. LOVD
+?/+ 2 c.374C>T r.(?) p.(Thr125Met) g.49954168C>T - Goji et al. (1998);Kuwahara (1998) AQP2_000023 - Variant found in both affected children and their father, not in mother. LOVD
+?/+ 1 c.377C>T r.(?) p.(Thr126Met) 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. LOVD
+?/+ 2 c.410T>C r.(?) p.(Leu137Pro) g.49954204T>C - Duzenli et al. (2012) AQP2_000001 - Variant may cause severe disease as patient was the most severely affected among 15 patients. LOVD
+?/+ 2 c.439G>A r.(?) p.(Ala147Thr) 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. LOVD
+?/+ 2 c.450T>A r.(?) p.(Asp150Glu) 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. LOVD
+?/+ 2 c.450T>A r.(?) p.(Asp150Glu) g.49954244T>A D150E Guyon et al. (2009) AQP2_000024 - Variant found in father, paternal uncle, paternal grandfather, and all 3 affected children. Dr. Daniel Bichet
-/- 2 c.501T>C r.(=) p.(=) 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. LOVD
-?/- 2 c.501T>C r.(=) p.(=) 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) LOVD
-/- 2 c.501T>C r.(=) p.(=) g.49954295T>C c.697C>G Liberatore et al. (2012) AQP2_000006 - A previously described polymorphism. LOVD
-?/- 2 c.501T>C r.(=) p.(=) g.49954295T>C S167S Guyon et al. (2009) AQP2_000006 - Variant found in father, paternal uncle, paternal grandfather, and 3 affected children. Dr. Daniel Bichet
+?/+ 2 c.502G>A r.(?) p.(Val168Met) 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. LOVD
+?/+ 2 c.502G>A r.(?) p.(Val168Met) g.49954296G>A - Vargas-Poussou et al. (1997) AQP2_000005 - - LOVD
+?/+ 2 c.523G>A r.(?) p.(Gly175Arg) g.49954317G>A - Goji et al. (1998);Kuwahara (1998) AQP2_000037 - Variant found in both affected children and in their mother, not in father. LOVD
+?/+ 3 c.538G>A r.(?) p.(Gly180Ser) 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. LOVD
+?/+ 3 c.543C>G r.(?) p.(Cys181Trp) 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. LOVD
+?/+ 3 c.559C>T r.(?) p.(Arg187Cys) 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. LOVD
+?/+ 3 c.559C>T r.(?) p.(Arg187Cys) 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. LOVD
+?/+ 3 c.559C>T r.(?) p.(Arg187Cys) g.49954663C>T R187C Leduc-Nadeau et al. (2010) AQP2_000028 - Variant found in mother, unaffected son, and 2 affected sons. Dr. Daniel Bichet
+?/+ 3 c.559C>T r.(?) p.(Arg187Cys) 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. Dr. Daniel Bichet
+?/+ 2 c.559C>T r.(?) p.(Arg187Cys) g.49954663C>T - de Mattia et al. (2004) AQP2_000028 - Variant found in affected individual; not found in sibling, mother, or maternal cousin. Dr. Daniel Bichet
+?/+ 3 c.560G>A r.(?) p.(Arg187His) g.49954664G>A - Cheong et al. (2005) AQP2_000014 - Variant found in mother and affected child. LOVD
+?/+ 1 c.568G>A r.(?) p.(Ala190Thr) g.49954672G>A - Kuwahara (1998) AQP2_000032 - Variant found in affected child and his father, not in mother. LOVD
+?/+ 3 c.568G>A r.(?) p.(Ala190Thr) 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. Dr. Daniel Bichet
+?/+ 3 c.587G>A r.(?) p.(Gly196Asp) g.49954691G>A G196D Guyon et al. (2009) AQP2_000026 - Variant found in mother, maternal grandmother, and 3 affected children. Dr. Daniel Bichet
+?/+ 3 c.601C>T r.(?) p.(His201Tyr) g.49954705C>T - Liberatore et al. (2012) AQP2_000020 - Variant found in mother and affected child. LOVD
+?/+ i3 c.607-1G>A r.(spl?) p.(?) 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. LOVD
+?/+ 4 c.631G>C r.(?) p.(Gly211Arg) g.49955423G>C c.697C>G Liberatore et al. (2012) AQP2_000021 - Variant found in father and affected child. LOVD
+?/+ 4 c.643G>T r.(?) p.(Gly215Cys) 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. LOVD
+?/+ 4 c.646T>C r.(?) p.(Ser216Pro) g.49955438T>C - Vargas-Poussou et al. (1997) AQP2_000010 - Variant not detected in the father. Assume de novo mutation. LOVD
+?/+ 4 c.646T>C r.(?) p.(Ser216Pro) 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. LOVD
+?/+ 4 c.647C>T r.(?) p.(Ser216Phe) 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. Mary Fujiwara
+?/+ 4 c.682A>G r.(?) p.(Lys228Glu) g.49955474A>G K228E Leduc-Nadeau et al. (2010) AQP2_000027 - Variant found in father and 2 affected sons. Dr. Daniel Bichet
+?/+ 4 c.721del r.(?) p.(Glu241Serfs*94) g.49955513del - Kuwahara et al. (2001);Ohzeki et al. (1984) AQP2_000038 - Variant found in 3 affected individuals; not found in unaffected mom. LOVD
+?/+ 4 c.761G>T r.(?) p.(Arg254Leu) 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. LOVD
+?/+ 4 c.763_772del r.(?) p.(Gln255Serfs*77) g.49955555_49955564del - Kuwahara et al. (2001) AQP2_000039 - Variant found in affected child but in neither of her parents. LOVD
+?/+ 2 c.785C>T r.(?) p.(Pro262Leu) g.49955577C>T - Kuwahara (1998) AQP2_000033 - Variant found in affected child and his mother, not in father. LOVD
+?/+ 4 c.785C>T r.(?) p.(Pro262Leu) 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. Dr. Daniel Bichet
+?/+ 4 c.785C>T r.(?) p.(Pro262Leu) 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. Dr. Daniel Bichet
+?/+ 4 c.812_*2del r.(?) p.(Ala271delins66aa) g.49955604_49955610del - Kuwahara et al. (2001) AQP2_000040 - Variant found in affected individual; not in his parents or his brother. LOVD
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