ABCMdb

ABCA4 p.Trp339Gly

None has been submitted yet.

Publications

PMID: 11379881 [PubMed] Yatsenko AN et al: "Late-onset Stargardt disease is associated with missense mutations that map outside known functional regions of ABCR (ABCA4)."

No. Sentence Comment

62 Five of these ABCR mutations (1025-1038del14 bp, W339G, G991R, W1100X, and 6238-6239del2 bp) are novel, and the sixth mutation, I1562T, had been described previously only in AMD patients (Table 1; Allikmets et al. 1997a). Login to comment
65 Allele 1 nucleotide Amino acid Allele 2 Amino acid Age of change nucleotide change onset (years) AR129-08 37 AR140-01 6079C→T L2027F 3322C→T R1108C 36 AR204-04 35 AR280-03 6316C→T R2106C 6710insA T2237fs 35 AR311-04 4462T→C C1488R 35 AR336-03 2588G→C G863A 5898+1G→A E1966splice 39 AR343-06 2588G→C G863A 3322C→T R1108C 43 AR387-03 4919G→A R1640Q 2971G→C G991R 40 AR410-04 768G→T V256splice 3113C→T A1038V 38 AR440-03 6238-6239del2 bp S2080fs 44 AR448-01a 454C→T R152X 6089G→A R2030Q 52 AR452-04 2005-2006del2 bp M669fs 6089G→A R2030Q 40 AR455-05 [1622T→C;3113C→T] [L541P;A1038V] 43 AR474-02 36 AR516-01a 5196+1G→A I1732splice 3113C→T A1038V 47 AR518-03 3322C→T R1108C 35 AR540-01a 4685T→C I1562T 51 AR594-02a 5196+1G→A I1732splice 36 AR606-04 3322C→T R1108C 2588G→C G863A 39 AR608-02 1025-1038del14 bp D342fs 40 AR617-03 2827C→T R943W 39 AR632-02a 3386G→T R1129L 50 AR649-03 3303G→A W1101X 3113C→T A1038V 36 AR662-02a 1015T→G W339G 50 AR723-01a 3602T→G L1201R 65 Fig.1 Pedigrees of late-onset Stargardt disease families (filled symbols STGD1-affected individuals). Login to comment
70 Furthermore, three of these alterations (W339G, G991R, and 6238-6239del2 bp) segregated with multiple STGD1 affecteds within the family; families with the alterations 1025-1038del14 bp, W1101X, and I1562T had only single affecteds and were uninformative for segregation. Login to comment
96 In family AR662, the asymptomatic father has a K1108T allele, and the STGD1-affected mother (onset at 50 years) has a single identified mutation, W339G. Login to comment
97 All their children have inherited the paternal mutation but only the STGD1 affected siblings with an age-of-onset at 7 and 13 years have the maternal mutation W339G. Login to comment

PMID: 26230768 [PubMed] Sparrow JR et al: "Flecks in Recessive Stargardt Disease: Short-Wavelength Autofluorescence, Near-Infrared Autofluorescence, and Optical Coherence Tomography."

No. Sentence Comment

52 [5898&#fe;1G>A 17 F 35.33 Caucasian 0.9 0.1 p. [N1799D] 18* F 52.33 African American 0.2 0.3 p. [W339G]; [R2107H] 19 F 54.03 Caucasian 0.3 0.2 p. [R2077W] BCVA, best-corrected visual acuity; logMAR, logarithm of the minimum angle of resolution; OD, right eye; OS, left eye. Login to comment