PMID: 11857735

Pang CP, Lam DS
Differential occurrence of mutations causative of eye diseases in the Chinese population.
Hum Mutat. 2002 Mar;19(3):189-208., [PubMed]
Sentences
No. Mutations Sentence Comment
162 ABCA4 p.Gly1961Glu
X
ABCA4 p.Gly1961Glu 11857735:162:0
status: NEW
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ABCA4 p.Ala1038Val
X
ABCA4 p.Ala1038Val 11857735:162:27
status: NEW
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ABCA4 p.Gly863Ala
X
ABCA4 p.Gly863Ala 11857735:162:8
status: NEW
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G1961E, G863A/delG863, and A1038V together account for about 10% of ABCA4 mutations in Caucasians. Login to comment
163 ABCA4 p.Gly863Ala
X
ABCA4 p.Gly863Ala 11857735:163:0
status: NEW
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G863A/delG863 is likely to harbor founder effects [Maugeri et al., 1999]. Login to comment
165 ABCA4 p.Gly1961Glu
X
ABCA4 p.Gly1961Glu 11857735:165:23
status: NEW
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ABCA4 p.Ala1038Val
X
ABCA4 p.Ala1038Val 11857735:165:62
status: NEW
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ABCA4 p.Leu541Pro
X
ABCA4 p.Leu541Pro 11857735:165:56
status: NEW
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About 20% of them have G1961E and 10% G2588C, while the L541P-A1038V complex allele appears to be a founder mutation [Rivera et al., 2000]. Login to comment
166 ABCA4 p.Thr1428Met
X
ABCA4 p.Thr1428Met 11857735:166:0
status: NEW
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T1428M, a rare sequence change in Caucasians, occurs in about 8% of Japanese patients [Kuroiwa et al., 1999]. Login to comment
168 ABCA4 p.Gly1961Glu
X
ABCA4 p.Gly1961Glu 11857735:168:270
status: NEW
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ABCA4 p.Asp2177Asn
X
ABCA4 p.Asp2177Asn 11857735:168:204
status: NEW
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Several studies found no significant association [Stone et al., 1998; Rivera et al., 2000; Webster et al., 2001], but the largest study to date showed a significant association of two mutations with AMD: D2177N in 1.8% of AMD cases and 0.6% of controls (p = 0.005), and G1961E in 1.6% of AMD and 0.3% of controls (p = 0.0008) [Allikmets, 2000]. Login to comment
180 ABCA4 p.Thr1428Met
X
ABCA4 p.Thr1428Met 11857735:180:129
status: NEW
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One patient, a 53-year-old woman, had a heterozygous splice site alteration, IVS33+1G>T, and a heterozygous missense alteration, T1428M. Login to comment
182 ABCA4 p.Arg212His
X
ABCA4 p.Arg212His 11857735:182:55
status: NEW
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ABCA4 p.Thr1572Met
X
ABCA4 p.Thr1572Met 11857735:182:69
status: NEW
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ABCA4 p.Ile2166Met
X
ABCA4 p.Ile2166Met 11857735:182:77
status: NEW
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Four other heterozygous missense sequence alterations, R212H, V143I, T1572M, I2166M, and one splice site alteration, IVS6-5T>G, were identified. Login to comment
183 ABCA4 p.Val1433Ile
X
ABCA4 p.Val1433Ile 11857735:183:15
status: NEW
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Of those, only V1433I has been previously described [Webster et al., 2001]. Login to comment