ABCMdb

PMID: 25406294

Chen P, Dai Y, Wu X, Wang Y, Sun S, Xiao J, Zhang Q, Guan L, Zhao X, Hao X, Wu R, Xie L
Mutations in the ABCA3 gene are associated with cataract-microcornea syndrome.
Invest Ophthalmol Vis Sci. 2014 Nov 18;55(12):8031-43. doi: 10.1167/iovs.14-14098., [PubMed]

Sentences

No. Mutations Sentence Comment

54 ABCA3 p.Glu690Val amino acid change, c.2069A>T resulting in an E690V amino acid change, 4035&#fe;2T>C, and 2765-1G>T (Table 3, Figs. 4I-P). Login to comment 56 ABCA3 p.Asp1465Asn The c.4393G>A generated a heterozygous missense mutation (p.Asp1465Asn). Login to comment 57 ABCA3 p.Thr803Met The c.2408C>T generated a heterozygous missense mutation (p.Thr803Met). Login to comment 59 ABCA3 p.Asn1418Ile The c.4253A>T generated a heterozygous missense mutation (p.Asn1418Ile). Login to comment 61 ABCA3 p.Asp1465Asn ABCA3 p.Asn1418Ile The p.Asn1418Ile and p.Asp1465Asn mutations were located in the second nucleotide binding domain. Login to comment 62 ABCA3 p.Thr803Met The p.Thr803Met mutation was located in the loop between the first nucleotide binding domain and the seventh membrane-spanning domain (Fig. 6A). Login to comment 117 ABCA3 p.Glu690Val ABCA3 p.Asp1465Asn ABCA3 p.Thr803Met ABCA3 p.Asn1418Ile ABCA3 p.Val93Ile ABCA3 p.Leu39Val Genetic Variants Identified in ABCA3 in the Two Chinese Families and the 5 Sporadic Patients With Cataract-Microcornea Syndrome Patient Chromosome/ Position/Gene Name dbSNP rs# Cluster ID Mutation Type Codons Substitution Prediction From SIFT Prediction From PolyPhen-2 Score of Prediction From PolyPhen-2 II2, III1, III4 (family A) chr16/2329098/ABCA3 rs201955122 Missense GAT4393AAT D1465N DAMAGING PROBABLY DAMAGING 0.994 II2, III1, III4 (family A) chr16/2376215/ABCA3 rs200090198 Missense CTC115GTC L39V TOLERATED POSSIBLY DAMAGING 0.857 II2, III1, III4 (family A) chr16/2376053/ABCA3 rs199840288 Missense GTC277ATC V93I TOLERATED BENIGN 0.006 III2, III3, III7, IV2, IV5 (family B) chr16/2345597/ABCA3 Novel Missense ACG2408ATG T803M DAMAGING POSSIBLY DAMAGING 0.801 Sporadic 4 chr16/2331134/ABCA3 Novel Missense AAT4253ATT N1418I DAMAGING PROBABLY DAMAGING 0.996 Sporadic 13 chr16/2347524/ABCA3 Novel Missense GAG2069GTG E690V DAMAGING PROBABLY DAMAGING 1.0 Sporadic13 chr16/2347541/ABCA3 Novel Splice site - - - - - Sporadic12, 15, 17 chr16/2333185/ABCA3 Novel Splice site - - - - - database. Login to comment 121 ABCA3 p.Asp1465Asn ABCA3 p.Val93Ile ABCA3 p.Leu39Val Three variants in ABCA3 gene cosegregated with the disease phenotype in Family A: c.115C>G resulting in an L39V amino acid change, c.277G>A resulting in an V93I amino acid change, and c.4393G>A resulting in an D1465N amino acid change (Table 3, Fig. 4). Login to comment 123 ABCA3 p.Thr803Met All five clinically affected subjects, but none of those who were unaffected in Family B, carried the heterozygous c.2408C>T mutation resulting in a T803M amino acid change (Table 3; Fig. 4). Login to comment 124 ABCA3 p.Thr803Met Thus, the heterozygous missense mutation T803M in ABCA3 completely cosegregated with the dominant CCMC phenotype within Family B. Login to comment 131 ABCA3 p.Asn1418Ile These four heterozygous mutations identified from the sporadic patients were c.4253A>T resulting in an N1418I FIGURE 4. Login to comment 137 ABCA3 p.Glu690Val 12 j amino acid change, c.2069A>T resulting in an E690V amino acid change, 4035&#fe;2T>C, and 2765-1G>T (Table 3, Figs. 4I-P). Login to comment 139 ABCA3 p.Asp1465Asn The c.4393G>A generated a heterozygous missense mutation (p.Asp1465Asn). Login to comment 140 ABCA3 p.Thr803Met The c.2408C>T generated a heterozygous missense mutation (p.Thr803Met). Login to comment 142 ABCA3 p.Asn1418Ile The c.4253A>T generated a heterozygous missense mutation (p.Asn1418Ile). Login to comment 144 ABCA3 p.Asp1465Asn ABCA3 p.Asn1418Ile The p.Asn1418Ile and p.Asp1465Asn mutations were located in the second nucleotide binding domain. Login to comment 145 ABCA3 p.Thr803Met The p.Thr803Met mutation was located in the loop between the first nucleotide binding domain and the seventh membrane-spanning domain (Fig. 6A). Login to comment 166 ABCA3 p.Glu690Val ABCA3 p.Asn1418Ile Another four heterozygous mutations, 2 missense (c.4253A>T, N1418I; c.2069A>T, E690V), and 2 splice site mutations (c. Login to comment 191 ABCA3 p.Glu690Val ABCA3 p.Asp1465Asn ABCA3 p.Thr803Met ABCA3 p.Asn1418Ile ABCA3 p.Val93Ile ABCA3 p.Leu39Val (B) Alignment of sequences surrounding the L39V, V93I, E690V, T803M, N1418I, and D1465N mutation in human, chimpanzee, monkey, pig, rat, and mouse. Login to comment 192 ABCA3 p.Glu690Val ABCA3 p.Asp1465Asn ABCA3 p.Thr803Met ABCA3 p.Asn1418Ile ABCA3 p.Leu39Val The five mutations (L39V, E690V, T803M, N1418I, and D1465N) in ABCA3 are highly conserved among different species. Login to comment 215 ABCA3 p.Asp1465Asn ABCA3 p.Asn1418Ile The p.Asn1418Ile and p.Asp1465Asn mutations were located in the second nucleotide binding domain. Login to comment 216 ABCA3 p.Thr803Met The p.Thr803Met mutation was located in the loop between the first nucleotide binding domain and the seventh membrane-spanning domain. Login to comment 293 ABCA3 p.Leu101Pro ABCA3 p.Asn568Asp ABCA3 p.Leu1553Pro ABCA3 p.Gln1591Pro ABCA3 p.Trp1142* ABCA3 p.Leu326Pro Genetic Variants Identified in ABCA3 in Patients With Surfactant Metabolism Dysfunction-3 (SMDP3) dbSNP rs# Cluster ID Codons Substitution Mutation Type Mutation Mode rs121909181 c.3426G>A W1142X Missense Homozygosity rs121909182 c.301T>C L101P Missense Homozygosity rs121909183 c.4657T>C L1553P Missense Homozygosity rs28936691 c.4772A>C Q1591P Missense Heterozygosity rs121909184 c.1702G>A N568D Missense Heterozygosity - c.4909&#fe;1G>A - Splice site Homozygosity rs121909185 c.977T>C L326P Missense Homozygosity 19. Login to comment