Mutation type*1 |
Mutation position |
Length of affected nucleotides |
Nucleotide sequence after mutation |
Mutation name |
Case # |
Consequence |
Symptom |
Hereditary pattern*2 |
Onset |
Reference |
FD |
1358 |
2 |
G |
1358indelCC->G |
1 |
CC-G at nucleotides 1358-1359 --> Ser-Term at codon 453 |
night blindness,visual field loss and choroidal atrophy |
XR |
early |
van den Hurk (1992) Am.J.Hum.Genet.50, 1195. |
N |
1471 |
1 |
T |
E491X |
1 |
GAG-TAG --> Glu-Term at codon 491 |
night blindness,visual field loss and choroidal atrophy |
XR |
early |
van den Hurk (1992) Am.J.Hum.Genet.50, 1195. |
N |
1484 |
1 |
A |
S495X |
1 |
TCA-TAA --> Ser-Term at codon 495 |
night blindness, visual field loss and choroidal atrophy |
XR |
early |
van den Hurk (1992) Am.J.Hum.Genet.50, 1195. |
FD |
1446 |
1 |
|
1446delA |
1 |
1-bp del of A at nucleotide 1446 --> frameshift at codon 483 |
night blindness, visual field loss and choroidal atrophy |
XR |
early |
van den Hurk (1992) Am.J.Hum.Genet.50, 1195. |
FD |
1584 |
4 |
|
1584delTGTT |
1 |
4-bp del of TGTT at nucleotides 1584-1587 --> frameshift at codon 529 |
night blindness, visual field loss and choroidal atrophy |
XR |
early |
van den Hurk (1992) Am.J.Hum.Genet.50, 1195. |
LD |
-30 |
75643 |
|
deletion of exons 1 to 8 |
1 |
deletion of exons 1 to 8 |
night blindness, visual field loss and choroidal atrophy |
XR |
early |
van Bokhoven (1994) Hum. Mol. Genet. 3, 1047. |
LD |
-30 |
150809 |
|
deletion of exons 1 to 15 |
1 |
deletion of exons 1 to 15 |
night blindness, visual field loss and choroidal atrophy |
XR |
early |
van Bokhoven (1994) Hum. Mol. Genet. 3, 1047. |
LD |
-30 |
150809 |
|
deletion of exons 1 to 15 |
1 |
deletion of exons 1 to 15 |
night blindness, visual field loss and choroidal atrophy |
XR |
early |
van Bokhoven (1994) Hum. Mol. Genet. 3, 1047. |
FI |
580 |
0 |
A |
580insA |
1 |
1-bp ins of A at nucleotide 580 --> frameshift at codon 195 |
night blindness, visual field loss and choroidal atrophy |
XR |
early |
van Bokhoven (1994) Hum. Mol. Genet. 3, 1047. |
FD |
525 |
2 |
|
525delAG |
1 |
2-bp del of AG at nucleotides 525-526 --> frameshift at codon 175 |
night blindness, visual field loss and choroidal atrophy |
XR |
early |
van Bokhoven (1994) Hum. Mol. Genet. 3, 1047. |
N |
877 |
1 |
T |
R293X |
1 |
C-T at nucleotide 877 --> Arg-Term at codon 293 |
night blindness, visual field loss and choroidal atrophy |
XR |
early |
van Bokhoven (1994) Hum. Mol. Genet. 3, 1047. |
FI |
1153 |
0 |
C |
1153insC |
1 |
1-bp ins of C at nucleotide 1153 --> frameshift at codon 385 |
night blindness, visual field loss and choroidal atrophy |
XR |
early |
van Bokhoven (1994) Hum. Mol. Genet. 3, 1047. |
S |
1414-2 |
1 |
G |
1414-2A->G |
1 |
A-G at nucleotide 1414 - 2 in intron 11 --> splice error |
night blindness, visual field loss and choroidal atrophy |
XR |
early |
van Bokhoven (1994) Hum. Mol. Genet. 3, 1047. |
LD |
1414-100 |
297 |
|
deletion of exon 12 |
1 |
deletion of exon 12 |
night blindness, visual field loss and choroidal atrophy |
XR |
early |
van Bokhoven (1994) Hum. Mol. Genet. 3, 1047. |
N |
1497 |
1 |
A |
C499X |
1 |
C-A at nucleotide 1497 --> Cys-Term at codon 499 |
night blindness, visual field loss and choroidal atrophy |
XR |
early |
van Bokhoven (1994) Hum. Mol. Genet. 3, 1047. |
FD |
1579 |
4 |
|
1579delTTGT |
1 |
4-bp del of TTGT at nucleotides 1579-1582 --> frameshift at codon 529 |
night blindness, visual field loss and choroidal atrophy |
XR |
early |
van Bokhoven (1994) Hum. Mol. Genet. 3, 1047. |
FD |
1650 |
2 |
|
1650delTT |
1 |
2-bp del of TT at nucleotides 1650-1651--> frameshift at codon 551 |
night blindness, visual field loss and choroidal atrophy |
XR |
early |
van Bokhoven (1994) Hum. Mol. Genet. 3, 1047. |
N |
1673 |
1 |
G |
S558X |
1 |
TCA-TGA --> Ser-Term at codon 558 |
progressive night blindness and central blindness by severe choroidal atrophy |
XR |
early |
Beaufrere (1996) Hum. Mut. 8, 395. |
LD |
-30 |
10867 |
|
deletion of exons 1 and 2 |
1 |
deletion of exons 1 and 2 |
night blindness, visual field loss and choroidal atrophy |
XR |
early |
van den Hurk (1997) Hum. Mut. 9, 110. |
LD |
-30 |
179 |
|
deletion of exon 1 |
1 |
deletion of exon 1 |
night blindness, visual field loss and choroidal atrophy |
XR |
early |
van den Hurk (1997) Hum. Mut. 9, 110. |
LD |
-30 |
179 |
|
deletion of exon 1 |
1 |
deletion of exon 1 |
night blindness, visual field loss and choroidal atrophy |
XR |
early |
van den Hurk (1997) Hum. Mut. 9, 110. |
N |
799 |
1 |
T |
R267X |
1 |
C-T at nucleotide 799 --> Arg-Term at codon 267 |
night blindness, visual field loss and choroidal atrophy |
XR |
early |
van den Hurk (1997) Hum. Mut. 9, 110. |
N |
1000 |
1 |
T |
Q334X |
1 |
C-T at nucleotide 1000 --> Gln-Term at codon 334 |
night blindness, visual field loss and choroidal atrophy |
XR |
early |
van den Hurk (1997) Hum. Mut. 9, 110. |
FD |
749 |
1 |
|
749delA |
1 |
1-bp del A at nucleotide 749 --> frameshift at codon 250 |
night blindness, visual field loss and choroidal atrophy |
XR |
early |
van den Hurk (1997) Hum. Mut. 9, 110. |
S |
1244+1 |
1 |
A |
1244+1G->A |
1 |
G-A at nucleotide 1244 + 1 in intron 9 |
night blindness, visual field loss and choroidal atrophy |
XR |
early |
van den Hurk (1997) Hum. Mut. 9, 110. |
S |
1349+2 |
0 |
GGT |
1349+2insGGT |
1 |
3-bp ins GGT at nucleotide 1349+2 in intron10 causing aberrant splicing |
night blindness, visual field loss and choroidal atrophy |
XR |
early |
van den Hurk (1997) Hum. Mut. 9, 110. |
S |
1771-1 |
1 |
A |
1771-1G->A |
1 |
G-A at nucleotide 1771 - 1 in intron14 |
night blindness, visual field loss and choroidal atrophy |
XR |
early |
van den Hurk (1997) Hum. Mut. 9, 110. |
P |
351 |
1 |
G |
351G/A |
1 |
G-A at nucleotide 351 |
- |
- |
- |
van den Hurk (1997) Hum. Mut. 9, 110. |
LD |
-30 |
150809 |
|
deletion of exons 1 to 15 |
1 |
deletion of exons 1 to 15 |
night blindness, visual field loss and choroidal atrophy |
XR |
early |
Cremers (1990) Am. J. Hum. Genet. 47, 622. |
LD |
1414-100 |
32635 |
|
deletion of exons 12 to 15 |
1 |
deletion of exons 12 to 15 |
night blindness, visual field loss and choroidal atrophy |
XR |
early |
Cremers (1990) Am. J. Hum. Genet. 47, 622. |
LD |
-30 |
150809 |
|
deletion of exons 1 to 15 |
1 |
deletion of exons 1 to 15 |
night blindness, visual field loss and choroidal atrophy |
XR |
early |
Cremers (1990) Am. J. Hum. Genet. 47, 622. |
LD |
-30 |
150809 |
|
deletion of exons 1 to 15 |
1 |
deletion of exons 1 to 15 |
night blindness, visual field loss and choroidal atrophy |
XR |
early |
Cremers (1990) Am. J. Hum. Genet. 47, 622. |
LD |
1167-100 |
64745 |
|
deletion of exons 9 to 15 |
1 |
deletion of exons 9 to 15 |
night blindness, visual field loss and choroidal atrophy |
XR |
early |
Cremers (1990) Am. J. Hum. Genet. 47, 622. |
LD |
1167-100 |
43127 |
|
deletion of exons 9 to 13 |
1 |
deletion of exons 9 to 13 |
night blindness, visual field loss and choroidal atrophy |
XR |
early |
Cremers (1990) Am. J. Hum. Genet. 47, 622. |
LD |
-30 |
75643 |
|
deletion of exons 1 to 8 |
1 |
deletion of exons 1 to 8 |
night blindness, visual field loss and choroidal atrophy |
XR |
early |
Cremers (1990) Am. J. Hum. Genet. 47, 622. |
LD |
117-100 |
54355 |
|
deletion of exons 3 to 8 |
1 |
deletion of exons 3 to 8 |
night blindness, visual field loss and choroidal atrophy |
XR |
early |
Cremers (1990) Am. J. Hum. Genet. 47, 622. |
TL |
1511-100 |
21917 |
|
translocation of exons 13-15 to chromosome 13 |
1 |
translocation of exons 13-15 to chromosome 13 |
mild choroideremia and infertility secondary to premature ovarian failure |
XR |
early |
Cremers (1989) Proc. Natl. Acad. Sci. 86, 7510. |
TL |
190-100 |
118827 |
|
translocation of exons 4-15 to chromosome 7 |
1 |
translocation of exons 4-15 to chromosome 7 |
choroideremia and primary amenorrhoea |
XR |
early |
Philippe (1993) Genomics 17, 147. |
FD |
1584 |
4 |
|
1584delTGTT |
1 |
4-bp del of TGTT at nucleotides 1584-1587 --> frameshift at codon 529 |
night blindness, visual field loss and choroidal atrophy |
XR |
early |
Pascal (1993) Hum. Mol. Genet. 2,1489. |
M |
1412 |
1 |
T |
Q471L |
1 |
CAG-CTG at nucleotide 1412 --> Gln-Leu at codon 471 |
night blindness and progressive loss of vision |
XR |
early |
Donnelly (1994) Hum. Molec. Genet. 6, 1017. |
LD |
1414-100 |
297 |
|
deletion of exon 12 |
1 |
deletion of exon 12 |
severe visual impairment characterized by dystrophy of the choroid and retina epithelium |
XR |
early |
Schwartz (1993) Hum. Mut. 2, 43. |
FD |
1650 |
2 |
|
1650delTT |
1 |
2-bp del of TT at nucleotiodes 1650-1651 --> frameshift at codon 551 |
severe visual impairment characterized by dystrophy of the choroid and retina epithelium |
XR |
early |
Schwartz (1993) Hum. Mut. 2, 43. |
N |
1497 |
1 |
A |
C499X |
1 |
TGC-TGA at nucleotide 1497 --> Cys-Term at codon 499 |
severe visual impairment characterized by dystrophy of the choroid and retina epithelium |
XR |
early |
Schwartz (1993) Hum. Mut. 2, 43. |
S |
1511-2 |
1 |
G |
1511-2A->G |
1 |
A-G at nucleotide 1511 - 2 in intron 12 causing aberrant splicing |
severe visual impairment characterized by dystrophy of the choroid and retina epithelium |
XR |
early |
Schwartz (1993) Hum. Mut. 2, 43. |
FD |
1584 |
4 |
|
1584delTTGT |
1 |
4-bp del of TTGT at nucleotides 1584-1587 --> frameshift at codon 529 |
severe visual impairment characterized by dystrophy of the choroid and retina epithelium |
XR |
early |
Schwartz (1993) Hum. Mut. 2, 43. |
LD |
-30 |
150809 |
|
deletion of exons 1 to 15 |
1 |
deletion of exons 1 to 15 |
severe visual impairment characterized by dystrophy of the choroid and retina epithelium |
XR |
early |
Schwartz (1993) Hum. Mut. 2, 43. |
LD |
-30 |
150809 |
|
deletion of exons 1 to 15 |
1 |
deletion of exons 1 to 15 |
night blindness, visual field loss and choroidal atrophy |
XR |
early |
unpublished |
FD |
315 |
4 |
|
315delTCAG |
2 |
4-bp del of TCAG at nucleotides 315-318 --> frameshift at codon 105 |
night blindness, visual field loss and choroidal atrophy |
XR |
early |
unpublished |
N |
625 |
1 |
T |
Q209X |
1 |
CAA-TAA --> Gln-Term at codon 209 |
night blindness, visual field loss and choroidal atrophy |
XR |
early |
unpublished |
N |
757 |
1 |
T |
R253X |
1 |
CGA-TGA --> Arg-Term at codon 253 |
night blindness, visual field loss and choroidal atrophy |
XR |
early |
unpublished |
N |
808 |
1 |
T |
R270X |
1 |
CGA-TGA --> Arg-Term at codon 270 |
night blindness, visual field loss and choroidal atrophy |
XR |
early |
unpublished |
N |
1208 |
1 |
G |
S403X |
1 |
TCA-TGA --> Ser-Term at codon 403 |
night blindness, visual field loss and choroidal atrophy |
XR |
early |
unpublished |
FD |
1283 |
2 |
|
1283delTC |
1 |
2-bp del of TC at nucleotides 1283-1284 --> termination at codon 429 |
night blindness, visual field loss and choroidal atrophy |
XR |
early |
unpublished |
FI |
1344 |
0 |
C |
1344insC |
1 |
1-bp ins of C at nucleotide 1344 --> frameshift at codon 449 |
night blindness, visual field loss and choroidal atrophy |
XR |
early |
unpublished |
FI |
1578 |
1 |
CC |
1578indelA->CC |
1 |
A-CC at nucleotide 1578 --> frameshift at codon 526 |
night blindness, visual field loss and choroidal atrophy |
XR |
early |
unpublished |
S |
1609+2 |
0 |
T |
1609+2insT |
1 |
1-bp ins of T at nucleotide 1609 + 2 causing aberrant splicing |
night blindness, visual field loss and choroidal atrophy |
XR |
early |
Sankila (1992) Nature Genet.1,109. |