ABCA3 p.Pro186Thr
[switch to full view]Comments [show]
None has been submitted yet.
PMID: 21189475
[PubMed]
Ciantelli M et al: "Fatal respiratory failure in a full-term newborn with two ABCA3 gene mutations: a case report."
No.
Sentence
Comment
28
In ABCA3, a compound heterozygosity for two new variants was found: the c.556C>A transition resulting in the p.Pro186Thr missense substitution in the putative protein and the c.2632delA, which results in a truncated protein (p.Met878Trpfs36X; reference ENST00000301732, numbering starting from ATG).
X
ABCA3 p.Pro186Thr 21189475:28:111
status: NEW35 For the missense p.Pro186Thr, we observed that the variant was absent in a sample of 134 alleles in the general population drawn from the same area of origin of the patient, thus it would not be a common variant.
X
ABCA3 p.Pro186Thr 21189475:35:19
status: NEW