Table 1.
Potential disease-causing mutations in AQP2.
| No. of Family | Accession Number | Name of Mutation | Domain | Nucleotide Change | Predicted Change | Ref | |
|---|---|---|---|---|---|---|---|
| Mis-sense | 1 | CM086773 | M1I | NH2 | ATG-to-ATT | Met-to-Ile | [5] |
| 1 | CM137423 | A19V | TMI | GCC-to-GTC | Ala-to-Val | [6] | |
| 1 | CM970097 | L22V | TMI | CTC-to-GTC | Leu-to-Val | [7] | |
| 1 | CM106380 | V24A | TMI | GTC-to-GCC | Val-to-Ala | [8] | |
| 1 | CM024085 | L28P | TMI | CTC-to-CCC | Leu-to-Pro | [9] | |
| 1 | CM086774 | G29S | TM1 | GGC-to-AGC | Gly-to-Ser | [5] | |
| 2 | CM024086 | A47V | TMII | GCG-to-GTG | Ala-to-Val | [9] | |
| 2 | CM021246 | Q57P | TMII | CAG-to-CCG | Glu-to-Pro | [10] | |
| 1 | CM940082 | G64R | CII | GGG-to-AGG | Gly-to-Arg | [11] | |
| 1 | CM970098 | N68S | CII | AAC-to-AGC | Asn-to-Ser | [12] | |
| 1 | CM056523 | A70D | CII | GCC-to-GAC | Ala-to-Asp | [13] | |
| 2 | CM950080 | V71M | CII | GTG-to-ATG | Val-to-Met | [14] | |
| 1 | CM153550 | A86V | TMIII | GCC-GTC | Ala-to-Val | [15] | |
| 1 | CM138317 | G96Q | TMIII | GGG-GAG | Gly-to-Glu | [16] | |
| 2 | CM021247 | G100V | TMIII | GGA-to-GTA | Gly-to-Val | [10] | |
| 1 | CM062427 | G100R | TMIII | GGA-to-AGA | Gly-to-Arg | [17] | |
| 1 | CM068766 | I107N | EII | ATC-to-AAC | Ile-to-Asn | [18] | |
| 1 | CM146787 | T108M | EII | ACG-ATG | Thr-to Met | [19] | |
| 1 | CM980100 | T125M | EII | ACG-to-ATG | Thr-to-Met | [20] | |
| 1 | CM970100 | T126M | EII | ACG-to-ATG | Thr-to-Met | [12] | |
| 1 | CM1411333 | A130V | TMIV | GCG-to-GTG | Ala-to-Val | [21] | |
| 1 | CM1210558 | L137P | TMIV | CTG-to-CCG | Leu-to-Pro | [22] | |
| 1 | CM970101 | A147T | TMIV | GCC-to-ACC | Ala-to-Thr | [12] | |
| 2 | CM071560 | D150E | ICII | GAT-to-GAA | Asp-to-Glu | [23] | |
| 1 | CM973106 | V168M | TMV | GTG-to-ATG | Val-to-Met | [24] | |
| 1 | CM980101 | G175R | TMV | GGG-to-AGG | Gly-to-Arg | [20] | |
| 1 | CM062428 | G180S | EIII | GGC-to-AGC | Gly-to-Ser | [17] | |
| 1 | CM970102 | C181W | EIII | TGC-to-TGG | Cys-to-Trp | [7] | |
| 1 | CM1411334 | N184H | EIII | AAT-to-CAT | Asn-to-His | [21] | |
| 1 | CM950081 | P185A | EIII | CCT-to-GCT | Pro-to-Ala | [14] | |
| 3 | CM940083 | R187C | EIII | CGC-to-TGC | Arg-to-Cys | [11] | |
| 1 | CM056522 | R187H | EIII | CGC-to-CAC | Arg-to-His | [13] | |
| 1 | CM950082 | A190T | EIII | GCT-to-ACT | Ala-to-Thr | [14] | |
| 1 | CM024087 | V194I | EIII | GTC-to-ATC | Val-to-Ile | [9] | |
| 1 | CM087015 | G196D | EIII | GGC-to-GAC | Gly-to-Asp | [25] | |
| 1 | CM120677 | H201Y | EIII | CAC-to-TAC | His-to-Tyr | [26] | |
| 1 | CM960073 | W202C | EIII | TGG-to-TGT | Trp-to-Cys | [27] | |
| 1 | CM120678 | G211R | TMVI | GGC-to-CGC | Gly-to-Arg | [26] | |
| 1 | CM156813 | G215S | TMVI | GGC-to-AGC | Gly-to-Ser | [28] | |
| 1 | CM071561 | G215C | TMVI | GGC-to-TGC | Gly-to-Cys | [23] | |
| 2 | CM940084 | S216P | TMVI | TCC-to-CCC | Ser-to-Pro | [11] | |
| 1 | CM099886 | S216F | TMVI | TCC-to-TTC | Ser-to-Phe | [29] | |
| 1 | CM106381 | K228E | CIV | AAG-to-GAG | Lys-to-Glu | [8] | |
| 1 | CM096039 | R254Q | CIV | CGG-to-CAG | Arg-to-Gln | [30] | |
| 1 | CM056296 | R254L | CIV | CGG-to-CTG | Arg-to-Leu | [31] | |
| 1 | CM1514252 | R254W | CIV | CGG-to-TGG | Arg-to-Trp | [32] | |
| 1 | CM980102 | E258K | CIV | GAG-to-AAG | Glu-to-Lys | [33] | |
| 2 | CM950083 | P262L | CIV | CCG-to-CTG | Pro-to-Leu | [14] | |
| Non-sense | 2 | CM972978 | R85X | CII | CGA-TGA | Arg-to-Stop | [24] |
| 1 | CM970099 | G100X | TMIII | GGA-to-TGA | Gly-to-Stop | [34] | |
| Frame-shift | 1 | CD034849 | 127–128del | TMII | 2bp deletion | Post-elongation | [35] |
| 1 | CD941595 | 369delC | EII | 1bp deletion | Stop at Codon 131 | [11] | |
| 1 | CD024169 | 652delC | TMVI | 1bp deletion | Post-elongation | [9] | |
| 1 | CD014628 | 721delG | CIV | 1 bp deletion | Post-elongation | [36] | |
| 1 | CD024654 | 727delG | CIV | 1 bp deletion | Post-elongation | [37] | |
| 1 | CD137424 | 750delG | CIV | 1 bp deletion | Post-elongation | [6] | |
| 1 | CD014629 | 763–772del | CIV | 10 bp deletion | Post-elongation | [36] | |
| 1 | CD137425 | 775delC | CIV | 1 bp deletion | Post-elongation | [6] | |
| 1 | CI156810 | 501–502insC | CIV | 1 bp insertion | Post-elongation | [28] | |
| 1 | CI034768 | 779–780insA | CIV | 1 bp insertion | Post-elongation | [38] | |
| 1 | CD983834 | 812–818del | CIV | 7 bp deletion | Post-elongation | [36] | |
| Splicing site | 1 | CS1213334 | IVS2-1G>A | NA | G-to-A | NA | [14] |
| 1 | CS024161 | IVS3+1G>A | NA | G-to-A | NA | [9] | |
| 1 | CS034835 | IVS3-1G>A | NA | G-to-A | NA | [35] |
Note: All mutations listed in http://www.hgmd.cf.ac.uk as of 09/20/2020 are presented.