ABCMdb

PMID: 17296903

Downs K, Zacks DN, Caruso R, Karoukis AJ, Branham K, Yashar BM, Haimann MH, Trzupek K, Meltzer M, Blain D, Richards JE, Weleber RG, Heckenlively JR, Sieving PA, Ayyagari R
Molecular testing for hereditary retinal disease as part of clinical care.
Arch Ophthalmol. 2007 Feb;125(2):252-8., [PubMed]

Sentences

No. Mutations Sentence Comment

86 ABCA4 p.Phe655Cys ABCA4 p.Phe655Cys ABCA4 p.Met1419Thr ABCA4 p.Met1419Thr ABCA4 p.Arg290Trp ABCA4 p.Arg290Trp ABCA4 p.Ala204Thr ABCA4 p.Ala204Thr ABCA4 p.Gly606Ala ABCA4 p.Gly606Ala ABCA4 p.Val1962Asp ABCA4 p.Val1962Asp ABCA4 p.Asp576His ABCA4 p.Asp576His ABCA4 p.Thr1676Pro ABCA4 p.Thr1676Pro ABCA4 p.Val567Met ABCA4 p.Val567Met ABCA4 p.Thr2240Ala ABCA4 p.Thr2240Ala ABCA4 p.Pro1512His ABCA4 p.Pro1512His ABCA4 p.Gly766Asp ABCA4 p.Gly766Asp ABCA4 p.Phe1900Leu ABCA4 p.Phe1900Leu ABCA4 p.Ser795Arg ABCA4 p.Ser795Arg ABCA4 p.Val1617Met ABCA4 p.Val1617Met ABCA4 p.Ala801Thr ABCA4 p.Ala801Thr ABCA4 p.Trp1624Gly ABCA4 p.Trp1624Gly ABCA4 p.Leu1138Pro ABCA4 p.Leu1138Pro ABCA4 p.Leu1046Trp ABCA4 p.Leu1046Trp ABCA4 p.His55Pro ABCA4 p.His55Pro ABCA4 p.Phe1026Leu ABCA4 p.Phe1026Leu ABCA4 p.Leu725Ile ABCA4 p.Leu725Ile Novel Sequence Changes Gene* Nucleotide Change Amino Acid Change Potentially Pathogenic Changes ABCA4 164A → C H55P 611G → A A204T 868C → T R290W 1699G →; A V567M 1726G ș2; C D576H 1817G !92; A G606A 1964T 192; G L725I 2173C → A F655C 2297G → A G766D 2385C → G S795R 2401G!92; A A801T 3076T !92; C F1026L 3138T 192; G L1046W 3414T → C L1138P 4256T → C M1419T 4535C → A P1512H 4849G → A V1617M 4870T → G W1624G 5026A → C T1676P IVS36 - 3G→ C Splice site change 5701C → A F1900L 5885T → A V1962D 6718A → G T2240A IVS42 ϩ 1G → A Intronic change RDS 667G → C C222S VMD2 174A → G Y29C 660T → C L191P 738G → T L217F 948G → A W287X 974A → G N296D Potentially Neutral Polymorphic Changes or Changes of Uncertain Significance ABCA4 320C → A R107R 1692A → G P562P 2823T → C C941C 4869C → G G1623G 5318C → T A1773V† 5390T → C C1797C IVS15 - 13T → C Intronic change IVS24 ϩ 46A → T Intronic change IVS35 ϩ 8G → A Intronic change IVS40 - 35A → C Intronic change IVS47 ϩ 29T → C Intronic change IVS50 - 131ins/del Intronic change EFEMP1 399C → A G133G RDS IVS3 ϩ 13C → T Intronic change *The genes are described in the second footnote to Table 1. Login to comment 116 ABCA4 p.Asn1868Ile ABCA4 p.Asn1868Ile 5603A → T The sequence change alters the amino acid at position 1868, from asparagine to isoleucine. Login to comment 118 ABCA4 p.Pro1948Leu ABCA4 p.Pro1948Leu 5843C → T This sequence change alters the amino acid at position 1948, from proline to leucine. Login to comment