The synonymous nucleotide substitution RHD L1056C > G alters mRNA splicing associated with serologically weak D phenotype
- Authors
- Chun, S[Chun, Sejong]; Yun, JW[Yun, Jae Won]; Park, G[Park, Geon]; Cho, D[Cho, Duck]
- Issue Date
- May-2018
- Publisher
- WILEY
- Keywords
- genotype; in silico; RHD; silent; splicing; synonymous
- Citation
- JOURNAL OF CLINICAL LABORATORY ANALYSIS, v.32, no.4
- Indexed
- SCIE
SCOPUS
- Journal Title
- JOURNAL OF CLINICAL LABORATORY ANALYSIS
- Volume
- 32
- Number
- 4
- URI
- https://scholarworks.bwise.kr/skku/handle/2021.sw.skku/20148
- DOI
- 10.1002/jcla.22330
- ISSN
- 0887-8013
- Abstract
- Background: D antigen is one of the most clinically significant blood group antigens. Variation of the RHD gene can cause weak D or partial D phenotypes. While most variations are missense substitutions with amino acid changes, those without are called "silent" or "synonymous" substitutions. Synonymous substitutions often have little effect on the protein, not altering the phenotype. However, effect on splicing can affect end-product protein. We report a new synonymous variation, RHD 1056C>G, that resulted in weak D phenotype, and predicted its effect with various in silico methods.
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- Appears in
Collections - Medicine > Department of Medicine > 1. Journal Articles
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