ABCMdb

ABCA3 p.Leu39Val

None has been submitted yet.

Publications

PMID: 25406294 [PubMed] Chen P et al: "Mutations in the ABCA3 gene are associated with cataract-microcornea syndrome."

No. Sentence Comment

117 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 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
191 (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 The five mutations (L39V, E690V, T803M, N1418I, and D1465N) in ABCA3 are highly conserved among different species. Login to comment