Table 1 Details of the multi-nucleotide variant (MNV) and corresponding single-nucleotide variants (SNVs) in the ABCG8 gene.
From: Compound heterozygous variants in the ABCG8 gene in a Japanese girl with sitosterolemia
Nucleotide | Amino acid | Population database | Disease database | in silico analysis | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
gnomADa,b | dbSNPc | HGVDa,d | ToMMo 4.7KJPNa,e | HGMDf | ClinVarg | CADD scoreh | Polyphen-2i | SIFTj | MutationTasterk | ||
<MNV detected in the patient> | |||||||||||
c.1256_1257delTCinsAA | p.Ile419Lys | 0.000063 (16/251446) | — | — | — | Disease causing (hypercholesterolemia) | — | 25.2 | Probably damaging | Deleterious | Disease causing |
<corresponding SNVs> | |||||||||||
c.1256T> A | p.Ile419Asn | 0.000072 (18/251438) | rs201659189 | 0.0021 (5/1209) | 0.0008 (8/9546) | — | — | 26.6 | Probably damaging | Deleterious | Disease causing |
c.1257C > A | p.Ile419Ile | 0.000063 (16/251446) | rs200818073 | 0.0021 (5/1209) | 0.0008 (8/9546) | — | — | 8.8 | — | Tolerated | Disease causing |
