ABCA3 p.Asn1418Ser
[switch to full view]Comments [show]
None has been submitted yet.
PMID: 22337229
[PubMed]
Agrawal A et al: "An intronic ABCA3 mutation that is responsible for respiratory disease."
No.
Sentence
Comment
85
Mutation associated with disease in other patients, lung histopathology Alive with ILD K Caucasian ILD p.N1418S ?
X
ABCA3 p.Asn1418Ser 22337229:85:105
status: NEW
PMID: 23166334
[PubMed]
Wambach JA et al: "Single ABCA3 mutations increase risk for neonatal respiratory distress syndrome."
No.
Sentence
Comment
74
TABLE 4 Rare Mutations Identified Among Infants of African Descent Gene Mutations RDS (n = 44) Non-RDS (n = 196) Missouri Population (n = 195) ESP (n = 1869) ABCA3 R20W 2 V129M 12 F245L 1 R280C 1 R280H 2 R288K 7 (0.4%)a E292V 4 (0.2%)a F353L 3 N555S 5 G571R 1 T574I 1 2 P585S 1 L707F 14 G739A 2 15 V968M 1 1 F1164V 1 N1418S 1 R1474W 1 1 A1660V 1 Infants with variant 2 (4.5%)a 3 (1.5%)a 3 (1.5%)a 72 (3.9%)a SFTPC R35C 1 V39M 1 G57S 1 R81C 1 SFTPC allele (carrier) frequency 4 (0.2%)a CHPT1 G70R 2 T87M 1 G115A 1 Y365H 3 CHPT1 allele (carrier) frequency 7 (0.4%)a LPCAT1 A194V 6 L255Q 2 D392H 1 R526W 1 LPCAT1 allele (carrier) frequency 10 (0.5%)a PCYT1B G199D 1 (0.05%)a Identified mutations are predicted to be damaging according to both SIFT and PolyPhen (accessed March 2012) or previous association with pediatric respiratory disease. Blank boxes indicate the mutations were not observed in that specific cohort.
X
ABCA3 p.Asn1418Ser 23166334:74:317
status: NEW