ABCA3 p.Leu798Pro
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PMID: 24269975
[PubMed]
Goncalves JP et al: "Novel ABCA3 mutations as a cause of respiratory distress in a term newborn."
No.
Sentence
Comment
52
She is a compound heterozygote carrier of a leucine798 (CTT) proline (CCT)/p.Leu798Prol/L798P exchange and of an arginine1612 (CGG) proline (CCG)/p.Arg1612Pro/R1612P substitution encoded by exons 18 and 31 of the ABCA3 gene.
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ABCA3 p.Leu798Pro 24269975:52:96
status: NEW85 In this case report PolyPhen-2 predicts that L798P is probably damaging (high confidence supposed to affect protein function and structure) and R1612P is benign (most likely lacking any phenotypic effect).
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ABCA3 p.Leu798Pro 24269975:85:45
status: NEW86 It appears that L798P is located in a nucleotide binding domain (NBD1), while R1612P in NBD2.
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ABCA3 p.Leu798Pro 24269975:86:16
status: NEW88 The L798P mutations occur in a residue in the ATP-binding domain that is highly conserved, and it almost certainly disrupts the function of the protein.
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ABCA3 p.Leu798Pro 24269975:88:4
status: NEW