ABCC2 p.Glu896Lys
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PMID: 18974617
[PubMed]
Ho WF et al: "Genetic variations of the ABCC2 gene in the Chinese, Malay, and Indian populations of Singapore."
No.
Sentence
Comment
13
Three novel nonsynonymous variations: 2686GÀA (Glu896Lys), 4240CÀT (His1414Tyr) and 4568AÀC (Gln1523Pro) were detected in single heterozygous Malay, Chinese, and Indian subjects, respectively.
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ABCC2 p.Glu896Lys 18974617:13:52
status: NEW44 Of the 8 nonsynonymous variations, 3 variations were novel: 2686GÀA (Glu896Lys), 4240CÀT (His1414Tyr), and 4568AÀC (Gln1523Pro), each was found as heterozygotes in Malay, Chinese, and Indian subjects, respectively.
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ABCC2 p.Glu896Lys 18974617:44:74
status: NEW48 2686GÀA (Glu896Lys) which resides outside the ABC region was predicted to be benign.
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ABCC2 p.Glu896Lys 18974617:48:14
status: NEW49 This is also well in agreement with the fact that His1414Tyr and Gln1523Pro involve a larger degree of structural modification than Glu896Lys.
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ABCC2 p.Glu896Lys 18974617:49:132
status: NEW52 Glu896Lys is the variant with the least drastic change, with both charged amino acid residues glutamate (acidic) and lysine (basic) having polar side chains, and thus likely to produce the mildest effect.
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ABCC2 p.Glu896Lys 18974617:52:0
status: NEW67 Population Genetic Variations of ABCC2 Gene SNP20 (389) el nonsynonymous variations, 2686GÀA (Glu896Lys) was speculated to be benign, and 4240CÀT (His1414Tyr) and 4568AÀC (Gln1523Pro) were speculated to be potentially damaging in function.
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ABCC2 p.Glu896Lys 18974617:67:99
status: NEW