ABCA4 p.Ile824Thr

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PMID: 14517951 [PubMed] Jaakson K et al: "Genotyping microarray (gene chip) for the ABCR (ABCA4) gene."
No. Sentence Comment
115 Mutations Detected in theTwoTest Populations by the ABCR400 Array,That Had Not Been Found by SSCP Number Nucleotide change Protein e¡ect Number of cases 1 161G4A C54Y 3 2 194G4A G65E 1 3 428C4T P143L 1 4 455G4A R152Q 1 5 514G4A G172S 1 6 635G4A R212H 1 7 656G4C R219T 1 8 768G4Ta Splice/V256V 3 9 1007C4G S336C 2 10 1268A4G H423R 4 11 1411G4A E471K 2 12 1622T4Ca L541P 8 13 1933G4A D645N 1 14 2041C4T R681X 5 15 2090G4A W697X 1 16 2471T4C I824T 1 17 2588G4Ca Splice/G863A 5 18 2828G4A R943Q 1 19 2966T4C V989A 1 20 2971G4C G991R 1 21 4139C4T P1380L 8 22 4195G4A E1399K 1 23 4328G4A R1443H 1 24 4457C4T P1486L 1 25 4462T4Ca C1488R 1 26 4469G4Aa C1490Y 1 27 4918C4Ta R1640W 2 28 IVS40+5G4A Splice 2 29 5537T4C I1846T 2 30 5882G4A G1961E 5 31 6089G4A R2030Q 1 32 6104T4C L2035P 1 33 6449G4A C2150Y 1 Mutation numbering is based on the cDNA sequence (GenBank NM_000350).
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ABCA4 p.Ile824Thr 14517951:115:444
status: NEW
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PMID: 11527935 [PubMed] Briggs CE et al: "Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration."
No. Sentence Comment
10 The authors found one instance of an apparently de novo mutation, Ile824Thr, in a patient.
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ABCA4 p.Ile824Thr 11527935:10:66
status: NEW
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83 One family had an index member (034-045) who was heterozygous for the missense changes Ile824Thr and Gly1961Glu.
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ABCA4 p.Ile824Thr 11527935:83:87
status: NEW
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84 The Gly1961Glu allele27 was found to have been inherited from the patient`s mother, but the Ile824Thr allele was not detected in either parent or in any sibling.
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ABCA4 p.Ile824Thr 11527935:84:92
status: NEW
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ABCA4 p.Ile824Thr 11527935:84:165
status: NEW
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85 The results of genotyping analysis of six microsatellite markers in the patient and her parents were consistent with the designated paternity and we interpreted the Ile824Thr allele as a de novo mutation in this patient.
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ABCA4 p.Ile824Thr 11527935:85:165
status: NEW
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87 We did not conduct further studies to determine whether the Ile824Thr and Gly1961Glu changes were allelic in this index patient.
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ABCA4 p.Ile824Thr 11527935:87:60
status: NEW
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82 One family had an index member (034-045) who was heterozygous for the missense changes Ile824Thr and Gly1961Glu.
X
ABCA4 p.Ile824Thr 11527935:82:87
status: NEW
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86 We did not conduct further studies to determine whether the Ile824Thr and Gly1961Glu changes were allelic in this index patient.
X
ABCA4 p.Ile824Thr 11527935:86:60
status: NEW
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