ABCA4 p.Thr1112Asn
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PMID: 20029649
[PubMed]
Ernest PJ et al: "Outcome of ABCA4 microarray screening in routine clinical practice."
No.
Sentence
Comment
143
DISCOVERED MUTATIONS IN THE ABCA4 GENE IN THE PATIENTS INCLUDED IN THIS STUDY Nucleotide change Effect Alleles References Mutations already included in the ABCA4 microarray c.286A>G p.Asn96Asp 2 [25] c.656G>C p.Arg219Thr 1 [10] c.740A>T p.Asn247Ile 1 This study* c.768G>T splice site 7 [13] c.899C>A p.Thr300Asn 1 [14] c.1805G>A p.Arg602Gln 1 [9] c.1822T>A p.Phe608Ile 2 [13] c.1853G>A p.Gly618Glu 1 [19] c.1938-1G>A splice site 1 [26] c.2588G>C p.DelGly863/Gly863Ala 8 [13] c.2919del exons20-22 deletion/frameshift 2 [13] c.3335C>A p.Thr1112Asn 1 [13] c.3874C>T p.Gln1292X 1 This study* c.3899G>A p.Arg1300Gln 1 [27] c.4297G>A p.Val1433Ile 1 [17] c.4462T>C p.Cys1488Arg 1 [17] c.4506C>A p.Cys1502X 1 This study* c.4539+1G>T splice site 1 [28] c.4774+1G>A splice site 1 [1] c.5161-5162delAC p.Thr1721fs 1 [27] c.5337C>A p.Tyr1779X 1 This study* c.5461-10T>C unknown 9 [9] c.5537T>C p.Ile1846Thr 1 [13] c.5693G>A p.Arg1898His 1 [1] c.5715+5G>A splice site 2 [28] c.5882G>A p.Gly1961Glu 10 [1] c.6088C>T p.Arg2030X 1 [14] c.6089G>A p.Arg2030Gln 1 [9] c.6238-6239delTC p.Ser2080fs 1 [29] c.6529G>A p.Asp2177Asn 1 [1] New mutations found with DGGE analysis c.303+4A>C splice site 1 c.872C>T p.Pro291Leu 1 c.2906A>G p.Lys969Arg 1 c.2947A>G p.Thr983Ala 1 c.3233G>A p.Gly1078Glu 1 c.3305A>T p.Asp1102Val 1 c.4353+1G>A splice site 1 c.5113C>T p.Arg1705Trp 1 c.5762_5763dup p.Ala1922fs 1 c.6411T>A p.Cys2137X 1 Total 74 Mutations are designated by their nucleotide change, followed by their effect on the protein and the number of alleles that were found with the mutation.
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ABCA4 p.Thr1112Asn 20029649:143:535
status: NEW
PMID: 25444351
[PubMed]
Lambertus S et al: "Early-onset stargardt disease: phenotypic and genotypic characteristics."
No.
Sentence
Comment
137
11 13 16, 23, 32, 39 c.818G>A p.Trp273* 1 1 This study c.872C>T p.Pro291Leu 1 1 34 c.1622T>C p.Leu541Pro 2 2 1, 16, 32, 40 c.1822T>A p.Phe608Ile 4 5 1, 23 c.1957C>T p.Arg653Cys 1 1 32, 41 c.2588G>C p.Gly863Ala/p.DelGly863 3 4 16, 18, 23, 32, 42 c.2919-?_3328&#fe;?del p.Ser974_Gly1110delinsCys 2 2 23 c.2947A>G p.Thr983Ala 3 4 34 c.3113C>T p.Ala1038Val 2 2 16, 31, 32, 40, 43 c.3335C>A p.Thr1112Asn 1 1 23 c.3449G>A p.Cys1150Tyr 1 1 This study c.3813G>C p.Glu1271Asp 1 1 This study c.3874C>T p.Gln1292* 1 1 34 c.4224G>T p.Trp1408Cys 1 1 This study c.4462T>C p.Cys1488Arg 1 1 1, 8, 44, 45 c.4506C>A p.Cys1502* 1 1 34 c.4539&#fe;1G>T p.?
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ABCA4 p.Thr1112Asn 25444351:137:388
status: NEW