PMID: 20398653

Chen B, Tosha C, Gorin MB, Nusinowitz S
Analysis of autofluorescent retinal images and measurement of atrophic lesion growth in Stargardt disease.
Exp Eye Res. 2010 Aug;91(2):143-52. Epub 2010 Apr 14., [PubMed]
Sentences
No. Mutations Sentence Comment
81 ABCA4 p.Gly1961Glu
X
ABCA4 p.Gly1961Glu 20398653:81:697
status: NEW
view ABCA4 p.Gly1961Glu details
ABCA4 p.Gly1961Glu
X
ABCA4 p.Gly1961Glu 20398653:81:1864
status: NEW
view ABCA4 p.Gly1961Glu details
ABCA4 p.Gly1961Glu
X
ABCA4 p.Gly1961Glu 20398653:81:2706
status: NEW
view ABCA4 p.Gly1961Glu details
ABCA4 p.Gly1961Glu
X
ABCA4 p.Gly1961Glu 20398653:81:3613
status: NEW
view ABCA4 p.Gly1961Glu details
ABCA4 p.Gly1961Glu
X
ABCA4 p.Gly1961Glu 20398653:81:4041
status: NEW
view ABCA4 p.Gly1961Glu details
ABCA4 p.Gly1961Glu
X
ABCA4 p.Gly1961Glu 20398653:81:4590
status: NEW
view ABCA4 p.Gly1961Glu details
ABCA4 p.Gly1961Glu
X
ABCA4 p.Gly1961Glu 20398653:81:4752
status: NEW
view ABCA4 p.Gly1961Glu details
ABCA4 p.Ala1038Val
X
ABCA4 p.Ala1038Val 20398653:81:396
status: NEW
view ABCA4 p.Ala1038Val details
ABCA4 p.Ala1038Val
X
ABCA4 p.Ala1038Val 20398653:81:615
status: NEW
view ABCA4 p.Ala1038Val details
ABCA4 p.Ala1038Val
X
ABCA4 p.Ala1038Val 20398653:81:3862
status: NEW
view ABCA4 p.Ala1038Val details
ABCA4 p.Ala1038Val
X
ABCA4 p.Ala1038Val 20398653:81:4133
status: NEW
view ABCA4 p.Ala1038Val details
ABCA4 p.Ala1038Val
X
ABCA4 p.Ala1038Val 20398653:81:4946
status: NEW
view ABCA4 p.Ala1038Val details
ABCA4 p.Gly863Ala
X
ABCA4 p.Gly863Ala 20398653:81:3027
status: NEW
view ABCA4 p.Gly863Ala details
ABCA4 p.Gly863Ala
X
ABCA4 p.Gly863Ala 20398653:81:3522
status: NEW
view ABCA4 p.Gly863Ala details
ABCA4 p.Leu541Pro
X
ABCA4 p.Leu541Pro 20398653:81:390
status: NEW
view ABCA4 p.Leu541Pro details
ABCA4 p.Leu541Pro
X
ABCA4 p.Leu541Pro 20398653:81:609
status: NEW
view ABCA4 p.Leu541Pro details
ABCA4 p.Leu541Pro
X
ABCA4 p.Leu541Pro 20398653:81:3856
status: NEW
view ABCA4 p.Leu541Pro details
ABCA4 p.Leu541Pro
X
ABCA4 p.Leu541Pro 20398653:81:4940
status: NEW
view ABCA4 p.Leu541Pro details
ABCA4 p.Arg2107His
X
ABCA4 p.Arg2107His 20398653:81:4685
status: NEW
view ABCA4 p.Arg2107His details
ABCA4 p.Leu2027Phe
X
ABCA4 p.Leu2027Phe 20398653:81:1423
status: NEW
view ABCA4 p.Leu2027Phe details
ABCA4 p.Leu2027Phe
X
ABCA4 p.Leu2027Phe 20398653:81:3284
status: NEW
view ABCA4 p.Leu2027Phe details
ABCA4 p.Leu2027Phe
X
ABCA4 p.Leu2027Phe 20398653:81:3434
status: NEW
view ABCA4 p.Leu2027Phe details
ABCA4 p.Thr1526Met
X
ABCA4 p.Thr1526Met 20398653:81:3206
status: NEW
view ABCA4 p.Thr1526Met details
ABCA4 p.Arg1108Cys
X
ABCA4 p.Arg1108Cys 20398653:81:1416
status: NEW
view ABCA4 p.Arg1108Cys details
ABCA4 p.Arg2030Gln
X
ABCA4 p.Arg2030Gln 20398653:81:1112
status: NEW
view ABCA4 p.Arg2030Gln details
ABCA4 p.Arg2030Gln
X
ABCA4 p.Arg2030Gln 20398653:81:4953
status: NEW
view ABCA4 p.Arg2030Gln details
ABCA4 p.Pro1380Leu
X
ABCA4 p.Pro1380Leu 20398653:81:2699
status: NEW
view ABCA4 p.Pro1380Leu details
ABCA4 p.Arg1898His
X
ABCA4 p.Arg1898His 20398653:81:3767
status: NEW
view ABCA4 p.Arg1898His details
ABCA4 p.Trp1408Arg
X
ABCA4 p.Trp1408Arg 20398653:81:3199
status: NEW
view ABCA4 p.Trp1408Arg details
ABCA4 p.Arg943Gln
X
ABCA4 p.Arg943Gln 20398653:81:804
status: NEW
view ABCA4 p.Arg943Gln details
ABCA4 p.Arg1129Leu
X
ABCA4 p.Arg1129Leu 20398653:81:1013
status: NEW
view ABCA4 p.Arg1129Leu details
ABCA4 p.Arg1129Leu
X
ABCA4 p.Arg1129Leu 20398653:81:2058
status: NEW
view ABCA4 p.Arg1129Leu details
ABCA4 p.Arg1129Leu
X
ABCA4 p.Arg1129Leu 20398653:81:4410
status: NEW
view ABCA4 p.Arg1129Leu details
ABCA4 p.Arg1129Leu
X
ABCA4 p.Arg1129Leu 20398653:81:4499
status: NEW
view ABCA4 p.Arg1129Leu details
ABCA4 p.Ser2255Ile
X
ABCA4 p.Ser2255Ile 20398653:81:496
status: NEW
view ABCA4 p.Ser2255Ile details
ABCA4 p.Ser2255Ile
X
ABCA4 p.Ser2255Ile 20398653:81:704
status: NEW
view ABCA4 p.Ser2255Ile details
ABCA4 p.Ser2255Ile
X
ABCA4 p.Ser2255Ile 20398653:81:1760
status: NEW
view ABCA4 p.Ser2255Ile details
ABCA4 p.Ser2255Ile
X
ABCA4 p.Ser2255Ile 20398653:81:1871
status: NEW
view ABCA4 p.Ser2255Ile details
ABCA4 p.Ser2255Ile
X
ABCA4 p.Ser2255Ile 20398653:81:2243
status: NEW
view ABCA4 p.Ser2255Ile details
ABCA4 p.Ser2255Ile
X
ABCA4 p.Ser2255Ile 20398653:81:2428
status: NEW
view ABCA4 p.Ser2255Ile details
ABCA4 p.Ser2255Ile
X
ABCA4 p.Ser2255Ile 20398653:81:4759
status: NEW
view ABCA4 p.Ser2255Ile details
ABCA4 p.Asp1532Glu
X
ABCA4 p.Asp1532Glu 20398653:81:2322
status: NEW
view ABCA4 p.Asp1532Glu details
ABCA4 p.Glu471Lys
X
ABCA4 p.Glu471Lys 20398653:81:1498
status: NEW
view ABCA4 p.Glu471Lys details
ABCA4 p.Glu471Lys
X
ABCA4 p.Glu471Lys 20398653:81:1767
status: NEW
view ABCA4 p.Glu471Lys details
ABCA4 p.Glu471Lys
X
ABCA4 p.Glu471Lys 20398653:81:3528
status: NEW
view ABCA4 p.Glu471Lys details
ABCA4 p.Arg290Gln
X
ABCA4 p.Arg290Gln 20398653:81:911
status: NEW
view ABCA4 p.Arg290Gln details
ABCA4 p.Trp31Arg
X
ABCA4 p.Trp31Arg 20398653:81:3291
status: NEW
view ABCA4 p.Trp31Arg details
ABCA4 p.Lys346Thr
X
ABCA4 p.Lys346Thr 20398653:81:917
status: NEW
view ABCA4 p.Lys346Thr details
ABCA4 p.Glu1122Lys
X
ABCA4 p.Glu1122Lys 20398653:81:2421
status: NEW
view ABCA4 p.Glu1122Lys details
ABCA4 p.Gln234*
X
ABCA4 p.Gln234* 20398653:81:1020
status: NEW
view ABCA4 p.Gln234* details
ABCA4 p.Cys54Thr
X
ABCA4 p.Cys54Thr 20398653:81:3355
status: NEW
view ABCA4 p.Cys54Thr details
ABCA4 p.Arg572*
X
ABCA4 p.Arg572* 20398653:81:4847
status: NEW
view ABCA4 p.Arg572* details
ABCA4 p.Arg2107Lys
X
ABCA4 p.Arg2107Lys 20398653:81:622
status: NEW
view ABCA4 p.Arg2107Lys details
ABCA4 p.Arg219Thr
X
ABCA4 p.Arg219Thr 20398653:81:3360
status: NEW
view ABCA4 p.Arg219Thr details
ABCA4 p.Phe873Ile
X
ABCA4 p.Phe873Ile 20398653:81:4048
status: NEW
view ABCA4 p.Phe873Ile details
ABCA4 p.Ala1794Asp
X
ABCA4 p.Ala1794Asp 20398653:81:3427
status: NEW
view ABCA4 p.Ala1794Asp details
ABCA4 p.Asn1805Asp
X
ABCA4 p.Asn1805Asp 20398653:81:4853
status: NEW
view ABCA4 p.Asn1805Asp details
ID# Age Years followed Visual Acuity AL Area (mm2 ) HF Area (mm2 ) ffERG Amplitudes (mV) ffERG IT (msec) ABCA4 Variants OD OS OD OS OD OS OD OS OD OS Rod Cone Rod Cone Rod Cone Rod Cone AI AII Group A S0047 53 2.83 20/40 20/40 31.60 33.85 0.20 0.07 304.0 125.4 392.9 143.3 69.5 29.3 72.7 29.3 NF NF S0023 49 3.26 20/160 20/160 9.92 12.67 1.24 1.49 292.1 52.2 272.4 46.4 77.9 36.8 78.3 35.2 L541P/A1038V NF S0050 78 2.71 20/250 20/160 2.02 0.07 1.21 0.67 355.0 82.2 373.1 87.2 76.7 34.1 76.7 34.8 S2255I IVS5,&#fe;1,G > C S0045 44 3.16 20/200 20/160 17.27 44.72 NM NM 177.0 55.7 201.9 50.0 85.3 41.5 87.7 39.9 L541P/A1038V R2107K S0018 35 2.28 20/200 20/250 4.31 2.53 NM NM ND ND ND ND ND ND ND ND G1961E S2255I S0033 63 2.35 20/800 20/400 15.51 12.09 1.30 0.22 168.2 53.0 180.9 45.4 96.3 38.0 101.0 38.4 R943Q IVS8,-9, T > C S0048 62 2.56 20/80 20/20 48.45 40.73 NM NM 119.7 69.5 213.9 54.6 71.2 35.6 80.6 35.2 R290Q K346T S0036 62 2.81 20/640 20/500 55.70 43.38 NM NM 174.8 41.1 158.1 50.8 106.6 38.5 102.3 35.2 R1129L Q234X S0029 62 2.81 20/40 20/80 57.62 61.25 NM NM 219.0 26.0 209.2 35.2 77.9 31.3 73.6 30.9 R2030Q NF S0024 43 3.20 20/25 20/25 4.91 3.91 4.18 1.48 98.2 23.7 148.0 36.2 84.0 33.2 85.5 33.6 NF NF S0078 35 1.17 20/100 20/125 5.64 5.39 0.70 0.83 230.1 106.7 187.6 108.8 71.2 34.1 64.6 34.1 IVS39-10,T > C NF S0032 64 2.56 20/250 20/320 8.67 3.67 0.67 0.74 273.2 75.5 235.1 114.7 87.9 30.5 72.7 30.1 R1108C L2027F S0051 52 1.90 20/25 20/20 32.78 29.23 NM NM ND ND ND ND ND ND ND ND E471K NF S0115 16 0.57 20/50 20/50 0.77 3.43 NM NM ND ND ND ND ND ND ND ND NF NF S0077 49 1.14 20/40 20/25 N/A 8.54 0.16 1.89 279.9 111.9 299.3 105.2 N/A N/A N/A N/A NF NF S0042 43 1.84 20/125 20/200 118.15 126.69 NM NM 122.3 27.7 114.8 29.3 85.7 36.4 89.6 36.0 S2255I E471K S0037 46 2.38 20/125 20/200 8.73 N/A 1.29 0.86 338.7 119.3 373.7 109.4 72.3 28.1 70.7 28.1 G1961E S2255I S0020 42 0.0 20/200 20/160 1.16 1.82 NM NM 140.4 43.2 159.9 45.8 81.3 31.3 71.5 29.3 NF NF S0041 44 0.0 20/200 20/160 4.73 7.09 0.96 1.36 260.5 65* 297.2 95.3 113.7 29.7 91.8 28.9 R1129L NF S0087 44 0.0 20/20 20/20 14.89 23.09 NM NM 180.9 66.8 182.2 78.0 76.1 32.9 72.2 32.9 IVS40, &#fe;5,G > A NF S0053 43 0.0 20/100 20/160 1.33 1.85 NM NM ND ND ND ND ND ND ND ND S2255I NF S0097 73 0.0 20/200 20/200 49.21 54.26 NM NM ND ND ND ND ND ND ND ND D1532E NF S0080 28 0.0 20/125 20/200 NA 0.98 0.56 0.03 333.1 117.2 325.1 121.4 80.2 32.5 82.6 32.9 E1122K S2255I S0210 49 0.0 20/160 20/200 0.21 NA NM NM 304.1 76.1 425.7 81.1 72.8 33.7 79.8 33.7 NF NF Group B S0133 30 0.0 20/125 20/32 0.51 0.01 387.1 123.7 374.8 105.1 65.4 32.9 65.0 32.9 NF NF S0046 49 0.0 20/160 20/160 1.48 1.68 491.2 148.9 494.9 145.3 72.7 30.1 77.3 29.7 P1380L G1961E S0141 40 0.0 20/13 20/32 1.88 0.41 389.0 156.5 343.5 150.6 70.8 33.3 69.7 34.4 NF NF S0058 61 0.0 20/50 20/50 1.48 1.52 ND ND ND ND ND ND ND ND NF NF S0149 16 0.0 20/80 20/100 1.59 0.62 285.0 87.4 333.4 115.3 62.6 32.5 61.4 32.5 NF NF S0083 15 0.0 20/13 20/13 0.17 0.48 441.1 144.2 472.0 155.5 74.4 33.3 71.6 33.3 G863A NF S0216 44 0.0 20/25 20/32 0.52 1.04 228.7 97.7 192.7 75.3 83.8 36.8 85.7 36.0 NF NF S0076 9 0.0 20/200 20/160 3.70 4.23 557.7 139.5 319.8 117.3 81.6 29.7 73.4 28.9 W1408R T1526M S0021 19 0.0 20/160 20/160 1.81 1.08 390.4 202.1 ND ND 63.3 29.3 ND ND L2027F W31R S0085 35 0.0 20/16 20/20 2.70 2.56 ND ND ND ND ND ND ND ND C54T R219T S0044 30 0.0 20/250 20/250 4.23 3.77 ND ND ND ND ND ND ND ND A1794D L2027F S0035 47 0.0 20/160 20/125 0.46 0.13 239.6 112.3 325.0 141.6 64.1 28.1 62.5 28.1 G863A E471K S0065 61 0.0 20/100 20/125 0.83 0.15 243.4 58.6 226.5 49.2 74.8 32.9 84.5 33.3 G1961E NF S0213 27 0.0 20/25 20/25 0.99 1.03 384.2 124.4 424.4 137.9 72.4 31.7 72.4 35.2 NF NF S0088 55 0.0 20/25 20/20 0.11 0.47 ND ND ND ND ND ND ND ND R1898H NF S0127 16 0.0 20/63 20/63 0.08 0.69 536.3 128.9 470.3 136.4 65.4 30.9 77.1 30.9 L541P/A1038V NF S0057 47 0.48 20/125 20/160 1.20 1.75 252.1 80.3 210.5 100.5 75.5 32.9 89.6 32.5 NF NF S0043 53 2.91 20/200 20/200 0.97 0.53 250.5 173.2 354.6 179.2 72.7 28.5 80.1 30.1 G1961E F873I S0101 37 1.1 20/40 20/20 0.14 0.25 382.2 159.7 422.7 156.7 70.5 32.5 74.0 32.9 A1038V IVS42 &#fe; 1,G > A S0027 17 2.18 20/50 20/50 1.60 2.12 196.3 36.3 198.0 51.0 84.7 32.9 98.8 35.3 NF NF S0104 20 1.19 20/160 20/200 0.05 0.12 237.4 77.7 440.1 88.7 63.0 30.9 64.6 30.1 NF NF S0110 26 1.02 20/200 20/125 0.65 0.56 333.8 94.5 349.4 98.7 68.9 32.1 68.9 32.5 R1129L NF S0049 34 2.13 20/50 20/200 0.76 0.92 374.4 97.2 344.0 90.5 81.0 32.9 65.8 33.7 R1129L NF S0075 22 1.06 20/63 20/125 0.40 0.69 454.5 114.0 452.7 122.8 77.5 32.1 75.5 32.9 G1961E NF S0039 36 2.2 20/160 20/100 0.15 0.13 347.7 137.1 395.8 142.0 80.1 31.3 61.7 30.9 M1V R2107H S0054 31 1.93 20/40 20/40 0.41 0.56 ND ND ND ND ND ND ND ND G1961E S2255I S0040 11 2.97 20/160 20/160 0.46 0.07 610.2 72.5 375.6 67.4 106.5 37.2 93.5 32.9 R572X N1805D S0028 54 2.73 20/16 20/16 1.04 1.54 425.5 105.8 386.3 107.8 83.4 34.4 84.1 34.8 L541P/A1038V R2030Q ND &#bc; not done. Login to comment
82 ABCA4 p.Gly1961Glu
X
ABCA4 p.Gly1961Glu 20398653:82:698
status: NEW
view ABCA4 p.Gly1961Glu details
ABCA4 p.Gly1961Glu
X
ABCA4 p.Gly1961Glu 20398653:82:1865
status: NEW
view ABCA4 p.Gly1961Glu details
ABCA4 p.Gly1961Glu
X
ABCA4 p.Gly1961Glu 20398653:82:2708
status: NEW
view ABCA4 p.Gly1961Glu details
ABCA4 p.Gly1961Glu
X
ABCA4 p.Gly1961Glu 20398653:82:3615
status: NEW
view ABCA4 p.Gly1961Glu details
ABCA4 p.Gly1961Glu
X
ABCA4 p.Gly1961Glu 20398653:82:4043
status: NEW
view ABCA4 p.Gly1961Glu details
ABCA4 p.Gly1961Glu
X
ABCA4 p.Gly1961Glu 20398653:82:4593
status: NEW
view ABCA4 p.Gly1961Glu details
ABCA4 p.Gly1961Glu
X
ABCA4 p.Gly1961Glu 20398653:82:4755
status: NEW
view ABCA4 p.Gly1961Glu details
ABCA4 p.Ala1038Val
X
ABCA4 p.Ala1038Val 20398653:82:396
status: NEW
view ABCA4 p.Ala1038Val details
ABCA4 p.Ala1038Val
X
ABCA4 p.Ala1038Val 20398653:82:616
status: NEW
view ABCA4 p.Ala1038Val details
ABCA4 p.Ala1038Val
X
ABCA4 p.Ala1038Val 20398653:82:3864
status: NEW
view ABCA4 p.Ala1038Val details
ABCA4 p.Ala1038Val
X
ABCA4 p.Ala1038Val 20398653:82:4135
status: NEW
view ABCA4 p.Ala1038Val details
ABCA4 p.Ala1038Val
X
ABCA4 p.Ala1038Val 20398653:82:4949
status: NEW
view ABCA4 p.Ala1038Val details
ABCA4 p.Gly863Ala
X
ABCA4 p.Gly863Ala 20398653:82:3029
status: NEW
view ABCA4 p.Gly863Ala details
ABCA4 p.Gly863Ala
X
ABCA4 p.Gly863Ala 20398653:82:3524
status: NEW
view ABCA4 p.Gly863Ala details
ABCA4 p.Leu541Pro
X
ABCA4 p.Leu541Pro 20398653:82:390
status: NEW
view ABCA4 p.Leu541Pro details
ABCA4 p.Leu541Pro
X
ABCA4 p.Leu541Pro 20398653:82:610
status: NEW
view ABCA4 p.Leu541Pro details
ABCA4 p.Leu541Pro
X
ABCA4 p.Leu541Pro 20398653:82:3858
status: NEW
view ABCA4 p.Leu541Pro details
ABCA4 p.Leu541Pro
X
ABCA4 p.Leu541Pro 20398653:82:4943
status: NEW
view ABCA4 p.Leu541Pro details
ABCA4 p.Arg2107His
X
ABCA4 p.Arg2107His 20398653:82:4688
status: NEW
view ABCA4 p.Arg2107His details
ABCA4 p.Leu2027Phe
X
ABCA4 p.Leu2027Phe 20398653:82:1424
status: NEW
view ABCA4 p.Leu2027Phe details
ABCA4 p.Leu2027Phe
X
ABCA4 p.Leu2027Phe 20398653:82:3286
status: NEW
view ABCA4 p.Leu2027Phe details
ABCA4 p.Leu2027Phe
X
ABCA4 p.Leu2027Phe 20398653:82:3436
status: NEW
view ABCA4 p.Leu2027Phe details
ABCA4 p.Thr1526Met
X
ABCA4 p.Thr1526Met 20398653:82:3208
status: NEW
view ABCA4 p.Thr1526Met details
ABCA4 p.Arg1108Cys
X
ABCA4 p.Arg1108Cys 20398653:82:1417
status: NEW
view ABCA4 p.Arg1108Cys details
ABCA4 p.Arg2030Gln
X
ABCA4 p.Arg2030Gln 20398653:82:1113
status: NEW
view ABCA4 p.Arg2030Gln details
ABCA4 p.Arg2030Gln
X
ABCA4 p.Arg2030Gln 20398653:82:4956
status: NEW
view ABCA4 p.Arg2030Gln details
ABCA4 p.Pro1380Leu
X
ABCA4 p.Pro1380Leu 20398653:82:2701
status: NEW
view ABCA4 p.Pro1380Leu details
ABCA4 p.Arg1898His
X
ABCA4 p.Arg1898His 20398653:82:3769
status: NEW
view ABCA4 p.Arg1898His details
ABCA4 p.Trp1408Arg
X
ABCA4 p.Trp1408Arg 20398653:82:3201
status: NEW
view ABCA4 p.Trp1408Arg details
ABCA4 p.Arg943Gln
X
ABCA4 p.Arg943Gln 20398653:82:805
status: NEW
view ABCA4 p.Arg943Gln details
ABCA4 p.Arg1129Leu
X
ABCA4 p.Arg1129Leu 20398653:82:1014
status: NEW
view ABCA4 p.Arg1129Leu details
ABCA4 p.Arg1129Leu
X
ABCA4 p.Arg1129Leu 20398653:82:2059
status: NEW
view ABCA4 p.Arg1129Leu details
ABCA4 p.Arg1129Leu
X
ABCA4 p.Arg1129Leu 20398653:82:4413
status: NEW
view ABCA4 p.Arg1129Leu details
ABCA4 p.Arg1129Leu
X
ABCA4 p.Arg1129Leu 20398653:82:4502
status: NEW
view ABCA4 p.Arg1129Leu details
ABCA4 p.Ser2255Ile
X
ABCA4 p.Ser2255Ile 20398653:82:496
status: NEW
view ABCA4 p.Ser2255Ile details
ABCA4 p.Ser2255Ile
X
ABCA4 p.Ser2255Ile 20398653:82:705
status: NEW
view ABCA4 p.Ser2255Ile details
ABCA4 p.Ser2255Ile
X
ABCA4 p.Ser2255Ile 20398653:82:1761
status: NEW
view ABCA4 p.Ser2255Ile details
ABCA4 p.Ser2255Ile
X
ABCA4 p.Ser2255Ile 20398653:82:1872
status: NEW
view ABCA4 p.Ser2255Ile details
ABCA4 p.Ser2255Ile
X
ABCA4 p.Ser2255Ile 20398653:82:2245
status: NEW
view ABCA4 p.Ser2255Ile details
ABCA4 p.Ser2255Ile
X
ABCA4 p.Ser2255Ile 20398653:82:2430
status: NEW
view ABCA4 p.Ser2255Ile details
ABCA4 p.Ser2255Ile
X
ABCA4 p.Ser2255Ile 20398653:82:4762
status: NEW
view ABCA4 p.Ser2255Ile details
ABCA4 p.Asp1532Glu
X
ABCA4 p.Asp1532Glu 20398653:82:2324
status: NEW
view ABCA4 p.Asp1532Glu details
ABCA4 p.Glu471Lys
X
ABCA4 p.Glu471Lys 20398653:82:1499
status: NEW
view ABCA4 p.Glu471Lys details
ABCA4 p.Glu471Lys
X
ABCA4 p.Glu471Lys 20398653:82:1768
status: NEW
view ABCA4 p.Glu471Lys details
ABCA4 p.Glu471Lys
X
ABCA4 p.Glu471Lys 20398653:82:3530
status: NEW
view ABCA4 p.Glu471Lys details
ABCA4 p.Arg290Gln
X
ABCA4 p.Arg290Gln 20398653:82:912
status: NEW
view ABCA4 p.Arg290Gln details
ABCA4 p.Trp31Arg
X
ABCA4 p.Trp31Arg 20398653:82:3293
status: NEW
view ABCA4 p.Trp31Arg details
ABCA4 p.Lys346Thr
X
ABCA4 p.Lys346Thr 20398653:82:918
status: NEW
view ABCA4 p.Lys346Thr details
ABCA4 p.Glu1122Lys
X
ABCA4 p.Glu1122Lys 20398653:82:2423
status: NEW
view ABCA4 p.Glu1122Lys details
ABCA4 p.Gln234*
X
ABCA4 p.Gln234* 20398653:82:1021
status: NEW
view ABCA4 p.Gln234* details
ABCA4 p.Cys54Thr
X
ABCA4 p.Cys54Thr 20398653:82:3357
status: NEW
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ABCA4 p.Arg572*
X
ABCA4 p.Arg572* 20398653:82:4850
status: NEW
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ABCA4 p.Arg2107Lys
X
ABCA4 p.Arg2107Lys 20398653:82:623
status: NEW
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ABCA4 p.Arg219Thr
X
ABCA4 p.Arg219Thr 20398653:82:3362
status: NEW
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ABCA4 p.Phe873Ile
X
ABCA4 p.Phe873Ile 20398653:82:4050
status: NEW
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ABCA4 p.Ala1794Asp
X
ABCA4 p.Ala1794Asp 20398653:82:3429
status: NEW
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ABCA4 p.Asn1805Asp
X
ABCA4 p.Asn1805Asp 20398653:82:4856
status: NEW
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ID# Age Years followed Visual Acuity AL Area (mm2 ) HF Area (mm2 ) ffERG Amplitudes (mV) ffERG IT (msec) ABCA4 Variants OD OS OD OS OD OS OD OS OD OS Rod Cone Rod Cone Rod Cone Rod Cone AI AII Group A S0047 53 2.83 20/40 20/40 31.60 33.85 0.20 0.07 304.0 125.4 392.9 143.3 69.5 29.3 72.7 29.3 NF NF S0023 49 3.26 20/160 20/160 9.92 12.67 1.24 1.49 292.1 52.2 272.4 46.4 77.9 36.8 78.3 35.2 L541P/A1038V NF S0050 78 2.71 20/250 20/160 2.02 0.07 1.21 0.67 355.0 82.2 373.1 87.2 76.7 34.1 76.7 34.8 S2255I IVS5,þ1,G > C S0045 44 3.16 20/200 20/160 17.27 44.72 NM NM 177.0 55.7 201.9 50.0 85.3 41.5 87.7 39.9 L541P/A1038V R2107K S0018 35 2.28 20/200 20/250 4.31 2.53 NM NM ND ND ND ND ND ND ND ND G1961E S2255I S0033 63 2.35 20/800 20/400 15.51 12.09 1.30 0.22 168.2 53.0 180.9 45.4 96.3 38.0 101.0 38.4 R943Q IVS8,-9, T > C S0048 62 2.56 20/80 20/20 48.45 40.73 NM NM 119.7 69.5 213.9 54.6 71.2 35.6 80.6 35.2 R290Q K346T S0036 62 2.81 20/640 20/500 55.70 43.38 NM NM 174.8 41.1 158.1 50.8 106.6 38.5 102.3 35.2 R1129L Q234X S0029 62 2.81 20/40 20/80 57.62 61.25 NM NM 219.0 26.0 209.2 35.2 77.9 31.3 73.6 30.9 R2030Q NF S0024 43 3.20 20/25 20/25 4.91 3.91 4.18 1.48 98.2 23.7 148.0 36.2 84.0 33.2 85.5 33.6 NF NF S0078 35 1.17 20/100 20/125 5.64 5.39 0.70 0.83 230.1 106.7 187.6 108.8 71.2 34.1 64.6 34.1 IVS39-10,T > C NF S0032 64 2.56 20/250 20/320 8.67 3.67 0.67 0.74 273.2 75.5 235.1 114.7 87.9 30.5 72.7 30.1 R1108C L2027F S0051 52 1.90 20/25 20/20 32.78 29.23 NM NM ND ND ND ND ND ND ND ND E471K NF S0115 16 0.57 20/50 20/50 0.77 3.43 NM NM ND ND ND ND ND ND ND ND NF NF S0077 49 1.14 20/40 20/25 N/A 8.54 0.16 1.89 279.9 111.9 299.3 105.2 N/A N/A N/A N/A NF NF S0042 43 1.84 20/125 20/200 118.15 126.69 NM NM 122.3 27.7 114.8 29.3 85.7 36.4 89.6 36.0 S2255I E471K S0037 46 2.38 20/125 20/200 8.73 N/A 1.29 0.86 338.7 119.3 373.7 109.4 72.3 28.1 70.7 28.1 G1961E S2255I S0020 42 0.0 20/200 20/160 1.16 1.82 NM NM 140.4 43.2 159.9 45.8 81.3 31.3 71.5 29.3 NF NF S0041 44 0.0 20/200 20/160 4.73 7.09 0.96 1.36 260.5 65* 297.2 95.3 113.7 29.7 91.8 28.9 R1129L NF S0087 44 0.0 20/20 20/20 14.89 23.09 NM NM 180.9 66.8 182.2 78.0 76.1 32.9 72.2 32.9 IVS40, þ5,G > A NF S0053 43 0.0 20/100 20/160 1.33 1.85 NM NM ND ND ND ND ND ND ND ND S2255I NF S0097 73 0.0 20/200 20/200 49.21 54.26 NM NM ND ND ND ND ND ND ND ND D1532E NF S0080 28 0.0 20/125 20/200 NA 0.98 0.56 0.03 333.1 117.2 325.1 121.4 80.2 32.5 82.6 32.9 E1122K S2255I S0210 49 0.0 20/160 20/200 0.21 NA NM NM 304.1 76.1 425.7 81.1 72.8 33.7 79.8 33.7 NF NF Group B S0133 30 0.0 20/125 20/32 0.51 0.01 387.1 123.7 374.8 105.1 65.4 32.9 65.0 32.9 NF NF S0046 49 0.0 20/160 20/160 1.48 1.68 491.2 148.9 494.9 145.3 72.7 30.1 77.3 29.7 P1380L G1961E S0141 40 0.0 20/13 20/32 1.88 0.41 389.0 156.5 343.5 150.6 70.8 33.3 69.7 34.4 NF NF S0058 61 0.0 20/50 20/50 1.48 1.52 ND ND ND ND ND ND ND ND NF NF S0149 16 0.0 20/80 20/100 1.59 0.62 285.0 87.4 333.4 115.3 62.6 32.5 61.4 32.5 NF NF S0083 15 0.0 20/13 20/13 0.17 0.48 441.1 144.2 472.0 155.5 74.4 33.3 71.6 33.3 G863A NF S0216 44 0.0 20/25 20/32 0.52 1.04 228.7 97.7 192.7 75.3 83.8 36.8 85.7 36.0 NF NF S0076 9 0.0 20/200 20/160 3.70 4.23 557.7 139.5 319.8 117.3 81.6 29.7 73.4 28.9 W1408R T1526M S0021 19 0.0 20/160 20/160 1.81 1.08 390.4 202.1 ND ND 63.3 29.3 ND ND L2027F W31R S0085 35 0.0 20/16 20/20 2.70 2.56 ND ND ND ND ND ND ND ND C54T R219T S0044 30 0.0 20/250 20/250 4.23 3.77 ND ND ND ND ND ND ND ND A1794D L2027F S0035 47 0.0 20/160 20/125 0.46 0.13 239.6 112.3 325.0 141.6 64.1 28.1 62.5 28.1 G863A E471K S0065 61 0.0 20/100 20/125 0.83 0.15 243.4 58.6 226.5 49.2 74.8 32.9 84.5 33.3 G1961E NF S0213 27 0.0 20/25 20/25 0.99 1.03 384.2 124.4 424.4 137.9 72.4 31.7 72.4 35.2 NF NF S0088 55 0.0 20/25 20/20 0.11 0.47 ND ND ND ND ND ND ND ND R1898H NF S0127 16 0.0 20/63 20/63 0.08 0.69 536.3 128.9 470.3 136.4 65.4 30.9 77.1 30.9 L541P/A1038V NF S0057 47 0.48 20/125 20/160 1.20 1.75 252.1 80.3 210.5 100.5 75.5 32.9 89.6 32.5 NF NF S0043 53 2.91 20/200 20/200 0.97 0.53 250.5 173.2 354.6 179.2 72.7 28.5 80.1 30.1 G1961E F873I S0101 37 1.1 20/40 20/20 0.14 0.25 382.2 159.7 422.7 156.7 70.5 32.5 74.0 32.9 A1038V IVS42 þ 1,G > A S0027 17 2.18 20/50 20/50 1.60 2.12 196.3 36.3 198.0 51.0 84.7 32.9 98.8 35.3 NF NF S0104 20 1.19 20/160 20/200 0.05 0.12 237.4 77.7 440.1 88.7 63.0 30.9 64.6 30.1 NF NF S0110 26 1.02 20/200 20/125 0.65 0.56 333.8 94.5 349.4 98.7 68.9 32.1 68.9 32.5 R1129L NF S0049 34 2.13 20/50 20/200 0.76 0.92 374.4 97.2 344.0 90.5 81.0 32.9 65.8 33.7 R1129L NF S0075 22 1.06 20/63 20/125 0.40 0.69 454.5 114.0 452.7 122.8 77.5 32.1 75.5 32.9 G1961E NF S0039 36 2.2 20/160 20/100 0.15 0.13 347.7 137.1 395.8 142.0 80.1 31.3 61.7 30.9 M1V R2107H S0054 31 1.93 20/40 20/40 0.41 0.56 ND ND ND ND ND ND ND ND G1961E S2255I S0040 11 2.97 20/160 20/160 0.46 0.07 610.2 72.5 375.6 67.4 106.5 37.2 93.5 32.9 R572X N1805D S0028 54 2.73 20/16 20/16 1.04 1.54 425.5 105.8 386.3 107.8 83.4 34.4 84.1 34.8 L541P/A1038V R2030Q ND ¼ not done. Login to comment