ABCC7 p.Leu1399*
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PMID: 10419506
[PubMed]
Haardt M et al: "C-terminal truncations destabilize the cystic fibrosis transmembrane conductance regulator without impairing its biogenesis. A novel class of mutation."
No.
Sentence
Comment
19
Premature stop codons were as follows: Q1412X (A. Wallace and M. Tassabehji; ⌬70); S1455X and L1399X (⌬26 and ⌬82, respectively).
X
ABCC7 p.Leu1399* 10419506:19:101
status: NEW
PMID: 11022033
[PubMed]
Gentzsch M et al: "Localization of sequences within the C-terminal domain of the cystic fibrosis transmembrane conductance regulator which impact maturation and stability."
No.
Sentence
Comment
229
However, the frameshift 4326de1TC resulting in truncation at residue 1398 and the premature stop L1399X also remove region II and hence also compromise the stability and ability to mature of the nascent chain.
X
ABCC7 p.Leu1399* 11022033:229:97
status: NEW