Nephrogenic and Neurogenic Diabetes Insipidus
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AVPR2


Schematic representation of the V2 receptor indicating potential nonsense mutations (amber) and those identified in NDI patients (red). The nonsense mutations were identified by using the computer program Mutability V1.11 written by Alastair Brown.
 


 
  List of nonsense mutations identified in NDI patients
 
 

Output from MUTABILITY V1.11

(C) MRC Human Genetics Unit 1997 - Written by Alastair Brown
 
 
Sequence ID:  AVPR2_Z11687 
Start nucleotide:  72 
Stop at and ignore first Stop Codon:  Yes 
Codons in sequence:  371 
Codons which could become nonsense:  67 
Codons which could become missense:  371 
Codons which could remain neutral:  350 
Nucleotides in sequence:  1545 
Nucleotides in complete codons:  1113 
Possible nucleotide changes:  3339 
Nucleotide changes resulting in nonsense mutations:  89 
Nucleotide changes resulting in missense mutations:  2369 
Nucleotide changes resulting in neutral mutations:  881 
CpG's in sequence:  58 
Sequence with potential STOPs which could result from a single
point mutation: 
ATG CTC ATG GCG TCC ACC ACT TCC GCT GTG      30 (10)
CCT GGG CAT CCC TCT CTG CCC AGC CTG CCC      60 (20)
AGC AAC AGC AGC CAG GAG AGG CCA CTG GAC      90 (30)
ACC CGG GAC CCG CTG CTA GCC CGG GCG GAG     120 (40)
CTG GCG CTG CTC TCC ATA GTC TTT GTG GCT     150 (50)
GTG GCC CTG AGC AAT GGC CTG GTG CTG GCG     180 (60)
GCC CTA GCT CGG CGG GGC CGG CGG GGC CAC     210 (70)
TGG GCA CCC ATA CAC GTC TTC ATT GGC CAC     240 (80)
TTG TGC CTG GCC GAC CTG GCC GTG GCT CTG     270 (90)
TTC CAA GTG CTG CCC CAG CTG GCC TGG AAG     300 (100)
GCC ACC GAC CGC TTC CGT GGG CCA GAT GCC     330 (110)
CTG TGT CGG GCC GTG AAG TAT CTG CAG ATG     360 (120)
GTG GGC ATG TAT GCC TCC TCC TAC ATG ATC     390 (130)
CTG GCC ATG ACG CTG GAC CGC CAC CGT GCC     420 (140)
ATC TGC CGT CCC ATG CTG GCG TAC CGC CAT     450 (150)
GGA AGT GGG GCT CAC TGG AAC CGG CCG GTG     480 (160)
CTA GTG GCT TGG GCC TTC TCG CTC CTT CTC     510 (170)
AGC CTG CCC CAG CTC TTC ATC TTC GCC CAG     540 (180)
CGC AAC GTG GAA GGT GGC AGC GGG GTC ACT     570 (190)
GAC TGC TGG GCC TGC TTT GCG GAG CCC TGG     600 (200)
GGC CGT CGC ACC TAT GTC ACC TGG ATT GCC     630 (210)
CTG ATG GTG TTC GTG GCA CCT ACC CTG GGT     660 (220)
ATC GCC GCC TGC CAG GTG CTC ATC TTC CGG     690 (230)
GAG ATT CAT GCC AGT CTG GTG CCA GGG CCA     720 (240)
TCA GAG AGG CCT GGG GGG CGC CGC AGG GGA     750 (250)
CGC CGG ACA GGC AGC CCC GGT GAG GGA GCC     780 (260)
CAC GTG TCA GCA GCT GTG GCC AAG ACT GTG     810 (270)
AGG ATG ACG CTA GTG ATT GTG GTC GTC TAT     840 (280)
GTG CTG TGC TGG GCA CCC TTC TTC CTG GTG     870 (290)
CAG CTG TGG GCC GCG TGG GAC CCG GAG GCA     900 (300)
CCT CTG GAA GGG GCG CCC TTT GTG CTA CTC     930 (310)
ATG TTG CTG GCC AGC CTC AAC AGC TGC ACC     960 (320)
AAC CCC TGG ATC TAT GCA TCT TTC AGC AGC     990 (330)
AGC GTG TCC TCA GAG CTG CGA AGC TTG CTC    1020 (340)
TGC TGT GCC CGG GGA CGC ACC CCA CCC AGC    1050 (350)
CTG GGT CCC CAA GAT GAG TCC TGC ACC ACC    1080 (360)
GCC AGC TCC TCC CTG GCC AAG GAC ACT TCA    1110 (370)
TCG TGA
CpG sites: 
ATG CTC ATG GCG TCC ACC ACT TCC GCT GTG     30 (10)
CCT GGG CAT CCC TCT CTG CCC AGC CTG CCC     60 (20)
AGC AAC AGC AGC CAG GAG AGG CCA CTG GAC     90 (30)
ACC CGG GAC CCG CTG CTA GCC CGG GCG GAG    120 (40)
CTG GCG CTG CTC TCC ATA GTC TTT GTG GCT    150 (50)
GTG GCC CTG AGC AAT GGC CTG GTG CTG GCG    180 (60)
GCC CTA GCT CGG CGG GGC CGG CGG GGC CAC    210 (70)
TGG GCA CCC ATA CAC GTC TTC ATT GGC CAC    240 (80)
TTG TGC CTG GCC GAC CTG GCC GTG GCT CTG    270 (90)
TTC CAA GTG CTG CCC CAG CTG GCC TGG AAG    300 (100)
GCC ACC GAC CGC TTC CGT GGG CCA GAT GCC    330 (110)
CTG TGT CGG GCC GTG AAG TAT CTG CAG ATG    360 (120)
GTG GGC ATG TAT GCC TCC TCC TAC ATG ATC    390 (130)
CTG GCC ATG ACG CTG GAC CGC CAC CGT GCC    420 (140)
ATC TGC CGT CCC ATG CTG GCG TAC CGC CAT    450 (150)
GGA AGT GGG GCT CAC TGG AAC CGG CCG GTG    480 (160)
CTA GTG GCT TGG GCC TTC TCG CTC CTT CTC    510 (170)
AGC CTG CCC CAG CTC TTC ATC TTC GCC CAG    540 (180)
CGC AAC GTG GAA GGT GGC AGC GGG GTC ACT    570 (190)
GAC TGC TGG GCC TGC TTT GCG GAG CCC TGG    600 (200)
GGC CGT CGC ACC TAT GTC ACC TGG ATT GCC    630 (210)
CTG ATG GTG TTC GTG GCA CCT ACC CTG GGT    660 (220)
ATC GCC GCC TGC CAG GTG CTC ATC TTC CGG    690 (230)
GAG ATT CAT GCC AGT CTG GTG CCA GGG CCA    720 (240)
TCA GAG AGG CCT GGG GGG CGC CGC AGG GGA    750 (250)
CGC CGG ACA GGC AGC CCC GGT GAG GGA GCC    780 (260)
CAC GTG TCA GCA GCT GTG GCC AAG ACT GTG    810 (270)
AGG ATG ACG CTA GTG ATT GTG GTC GTC TAT    840 (280)
GTG CTG TGC TGG GCA CCC TTC TTC CTG GTG    870 (290)
CAG CTG TGG GCC GCG TGG GAC CCG GAG GCA    900 (300)
CCT CTG GAA GGG GCG CCC TTT GTG CTA CTC    930 (310)
ATG TTG CTG GCC AGC CTC AAC AGC TGC ACC    960 (320)
AAC CCC TGG ATC TAT GCA TCT TTC AGC AGC    990 (330)
AGC GTG TCC TCA GAG CTG CGA AGC TTG CTC   1020 (340)
TGC TGT GCC CGG GGA CGC ACC CCA CCC AGC   1050 (350)
CTG GGT CCC CAA GAT GAG TCC TGC ACC ACC   1080 (360)
GCC AGC TCC TCC CTG GCC AAG GAC ACT TCA   1110 (370)
TCG TGA
MRC Human Genetics Unit, Edinburgh, Scotland.

Page Last modified: 10 August 1999

Site last modified: 24 October 2003