ABCA3 p.Glu690Val
[switch to full view]Comments [show]
None has been submitted yet.
PMID: 25406294
[PubMed]
Chen P et al: "Mutations in the ABCA3 gene are associated with cataract-microcornea syndrome."
No.
Sentence
Comment
54
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).
X
ABCA3 p.Glu690Val 25406294:54:45
status: NEW117 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.
X
ABCA3 p.Glu690Val 25406294:117:926
status: NEW137 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).
X
ABCA3 p.Glu690Val 25406294:137:52
status: NEW166 Another four heterozygous mutations, 2 missense (c.4253A>T, N1418I; c.2069A>T, E690V), and 2 splice site mutations (c.
X
ABCA3 p.Glu690Val 25406294:166:79
status: NEW191 (B) Alignment of sequences surrounding the L39V, V93I, E690V, T803M, N1418I, and D1465N mutation in human, chimpanzee, monkey, pig, rat, and mouse.
X
ABCA3 p.Glu690Val 25406294:191:55
status: NEW192 The five mutations (L39V, E690V, T803M, N1418I, and D1465N) in ABCA3 are highly conserved among different species.
X
ABCA3 p.Glu690Val 25406294:192:26
status: NEW