Title : Molecular characterisation of the defective alpha 1-antitrypsin alleles PI Mwurzburg (Pro369Ser), Mheerlen (Pro369Leu), and Q0lisbon (Thr68Ile).

Pub. Date : 1999 Apr

PMID : 10234508






2 Functional Relationships(s)
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1 The allele PI Mheerlen, a previously described different amino acid substitution in the same position as PI Mwurzburg (Pro369 [CCC] to Leu [CTC]) is shown to cause complete retention of the mutant alpha 1AT in the ER, too, whereas in the recently described mutant allele PI Q0lisbon (Thr68 [ACC] to Ile [ATC]) a significantly reduced alpha 1AT secretion from the cells was observed. Leucine serpin family A member 1 Homo sapiens
2 The allele PI Mheerlen, a previously described different amino acid substitution in the same position as PI Mwurzburg (Pro369 [CCC] to Leu [CTC]) is shown to cause complete retention of the mutant alpha 1AT in the ER, too, whereas in the recently described mutant allele PI Q0lisbon (Thr68 [ACC] to Ile [ATC]) a significantly reduced alpha 1AT secretion from the cells was observed. Leucine serpin family A member 1 Homo sapiens