ABCMdb

ABCA4 p.Met1Val

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Publications

PMID: 19365591 [PubMed] Maia-Lopes S et al: "ABCA4 mutations in Portuguese Stargardt patients: identification of new mutations and their phenotypic analysis."

No. Sentence Comment

62 [Val931Met]+[Ser1642Arg], found in 4.8% of the families, and p. Login to comment
63 [Met1Val]+ [Arg2030Gln], found in 4.8% of the families (for details, see Table 1). Login to comment
64 Most of the mutations detected have been reported as STGD-associated variants: p.Met1Val, p.Asn96Asp, p.Arg290Trp, p.Val931Met, p.Gly1961Glu, p.Leu2027Phe, p.Arg2030Gln, p.Asp1048fs, and IVS40+5G>A. Login to comment

PMID: 11527935 [PubMed] Briggs CE et al: "Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration."

No. Sentence Comment

57 Twenty-one of the changes (including 15 novel changes) were interpreted as obviously null mutations: One was a missense change affecting the initiation codon (Met1Val), four were nonsense mutations, four changed canonical splice-site donor or acceptor sites, and 12 were frameshifts caused by the insertion or deletion of one or more base pairs (Table 1). Login to comment
56 Twenty-one of the changes (including 15 novel changes) were interpreted as obviously null mutations: One was a missense change affecting the initiation codon (Met1Val), four were nonsense mutations, four changed canonical splice-site donor or acceptor sites, and 12 were frameshifts caused by the insertion or deletion of one or more base pairs (Table 1). Login to comment

PMID: 23096905 [PubMed] Oldani M et al: "Clinical and molecular genetic study of 12 Italian families with autosomal recessive Stargardt disease."

No. Sentence Comment

69 of patients Subject Allele 1 Allele 2 Age of diagnosis (years) Visual acuity Right eye Left eye 1 F1 ID81 Tyr1858Asp Met1Val; Arg2030Gln 22 20/50 20/32 2 F2 ID220 Ile156Val Gly607Arg; Gly1961Glu 30 20/800 20/400 3 F3 ID362 Met1Val Gly1961Glu; Arg2030Gln 60 20/40 20/32 4 F4 ID197 Asp1532Asn Arg2030term 40 20/32 20/32 5 F6 ID363 Tyr362Term Gly863Ala 16 20/200 20/250 6 F7 ID365 Arg1098Cys Cys1488Arg 50 20/32 20/800 7 F8 ID394 Arg18Trp Val767Asp 10 20/800 20/800 8 F9 ID396 IVS40+5G>A IVS13+1G>A 19 20/40 20/50 9 F10 ID366 p.Gln1513Profs*42 - 20 20/200 20/200 10 F12 ID377 Leu1195Argfs*2 - 50 20/32 20/20 11 F13 ID4 Cys2150Tyr - 70 20/400 20/400 12 F17 ID457 p.Tyr850Cys p.Thr959Ala 50 20/20 20/40 F1 = family 1; ID = reference code to a specific patient. Login to comment