Mutation data of the CHM gene in choroideremia

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.

*1 Abbreviations are as follows: M, Missense; N, Nonsense; S, Splicing; FI, Frameshift Insertion; FD, Frameshift Deletion; P, Polymorphism; LD, Large Deletion; TL, Translocation.
*2 Abbreviations are as follows: XR, X-linked Recessive.







Last updated 12 Dec 1998