Functional characterization of a SNP (F51S) found in human alpha 1-antitrypsin.
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ABSTRACT:
SUBMITTER: Trinh HN
PROVIDER: S-EPMC6687665 | biostudies-literature | 2019 Aug
REPOSITORIES: biostudies-literature
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Functional characterization of a SNP (F51S) found in human alpha 1-antitrypsin.
Trinh Hong-Nhung HN Jang Sei-Heon SH Lee ChangWoo C
Molecular genetics & genomic medicine 20190628 8
<h4>Background</h4>Alpha 1-antitrypsin (A1AT) deficiency is related to lung and liver diseases, including pulmonary emphysema and liver cirrhosis in humans. Genetic variations including single nucleotide polymorphisms (SNPs) of SERPINA1 are responsible for A1AT deficiency, but the characteristics of the SNPs are not well-understood. Here, we investigated the features of a rare SNP (F51S) of A1AT, which introduces an additional N-glycosylation site in the N-terminal region of A1AT.<h4>Methods</h4 ...[more]
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