ABCMdb

ABCA4 p.Ile2166Met

ClinVar:	c.6498C>G , p.Ile2166Met ? , not provided
Predicted by SNAP2:	A: D (63%), C: N (57%), D: D (75%), E: D (59%), F: N (57%), G: D (80%), H: D (59%), K: D (63%), L: N (87%), M: N (61%), N: D (66%), P: D (71%), Q: N (53%), R: D (66%), S: D (59%), T: N (53%), V: N (87%), W: D (75%), Y: D (59%),
Predicted by PROVEAN:	A: N, C: N, D: N, E: N, F: N, G: D, H: D, K: N, L: N, M: N, N: N, P: N, Q: N, R: N, S: N, T: N, V: N, W: D, Y: N,

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Publications
[hide] ABCA4 sequence variants in Chinese patients with a... Ophthalmologica. 2003 Mar-Apr;217(2):111-4. Baum L, Chan WM, Li WY, Lam DS, Wang PB, Pang CP
ABCA4 sequence variants in Chinese patients with age-related macular degeneration or Stargardt's disease.
Ophthalmologica. 2003 Mar-Apr;217(2):111-4., [PMID:12592048]

Abstract [show]
ABCA4 gene sequence alterations cause Stargardt's disease (STGD) and may cause some age-related macular degeneration (AMD). We sought to shed light on these associations among Hong Kong Chinese by genotyping 140 AMD, 18 STGD and 95 normal control subjects for 15 ABCA4 exons which were reported to often contain AMD- or STGD-associated mutations. Sequence alterations R212H, T1428M, V1433I, T1572M, I2166M, IVS6-5T>G and IVS33+1G>T were found in AMD patients. T1428M and R2040X occurred in STGD patients. Control subjects displayed all the above missense alterations but no splicing or nonsense changes. Therefore, ABCA4 splicing mutations may be associated with a small proportion of AMD cases.

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Sentences [show]
No. Sentence Comment
3 Sequence alterations R212H, T1428M, V1433I, T1572M, I2166M, IVS6-5T1G and IVS33+1G1T were found in AMD patients. Login to comment
18 ABCA4 protein or splice sequence alterations in AMD and normal controls Sequence change AMD (140) Normal (95) Reports R212H 1 (1%) 1 (1%) polymorphism [18, 24] IVS6-5T1G 1 (1%) 0 (0%) novel T1428M 18 (13%) 15 (16%) rare in AMD [15] or common polymorphism [17] V1433I 1 (1%) 1 (1%) 1/150 STGD families and 0/220 normal controls [14]; 1/182 AMD, 0/96 normal controls and 0/374 STGD [38]; not segregated with AMD in families [13] T1572M 1 (1%) 1 (1%) novel IVS33+1G1T 1 (1%) 0 (0%) novel I2166M 2 (1%) 1 (1%) novel Table 2. Login to comment
43 T1572M and I2166M have not previously been reported. Login to comment

[hide] Differential occurrence of mutations causative of ... Hum Mutat. 2002 Mar;19(3):189-208. Pang CP, Lam DS
Differential occurrence of mutations causative of eye diseases in the Chinese population.
Hum Mutat. 2002 Mar;19(3):189-208., [PMID:11857735]

Abstract [show]
Ethnic differences and geographic variations affect the frequencies and nature of human mutations. In the literature, descriptions of causative mutations of eye diseases in the Chinese population are few. In this paper we attempt to reveal molecular information on genetic eye diseases involving Chinese patients from published and unpublished works by us and other groups. Our studies on candidate genes of eye diseases in the Chinese population in Hong Kong include MYOC and TISR for primary open angle glaucoma, RHO and RP1 for retinitis pigmentosa, ABCA4 and APOE for age-related macular degeneration, RB1 for retinoblastoma, APC for familial adenomatous polyposis with congenital hypertrophy of retinal pigment epithelium, BIGH3/TGFBI for corneal dystrophies, PAX6 for aniridia and Reiger syndrome, CRYAA and CRYBB2 for cataracts, and mtDNA for Leber hereditary optic neuropathy. We have revealed novel mutations in most of these genes, and in RHO, RP1, RB1, BIGH3, and PAX6 we have reported mutations that contribute to better understanding of the functions and properties of the respective gene products. We showed absence of MYOC does not necessarily cause glaucoma. No disease causative mutations have been identified in MYOC or ABCA4. There are similarities in the patterns of sequence alterations and phenotype-genotype associations in comparison with other ethnic groups, while the MYOC, RB1, APC, and PAX6 genes have more Chinese-specific sequence alterations. Establishment of a mutation database specific for the Chinese is essential for identification of genetic markers with diagnostic, prognostic, or pharmacological values.

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Sentences [show]
No. Sentence Comment
182 Four other heterozygous missense sequence alterations, R212H, V143I, T1572M, I2166M, and one splice site alteration, IVS6-5T>G, were identified. Login to comment