Table 2.
Possible mutation sites in the patient associated with hemochromatosis or psoriasis
| Genes | RefSeq | Nucleic acid alternation | Amino acid alternation | Mut site | Zygotic | CytoBand | RS-ID | FRE in EAS | Mut- type | SIFT score | Polyphen2 score | MutationTaster score | Priority |
| PIEZO1 | NM_001142864 | c.C4748T | p.A1583V | Exon 35 | Het | 16q24.3 | rs940442937 | - | Mis | 0.28 | 0.002 | 1 | Medium |
| IFIH1 | NM_022168 | c.C2366T | p.T789I | Exon 12 | Het | 2q24.2 | rs778200491 | 0.0013 | Mis | 0 | 1 | 1 | High |
| KRT8 | NM_002273 | c.G1381A | p.V461M | Exon 8 | Het | 12q13.13 | rs757168162 | 0.0031 | Mis | 0.097 | 0.197 | 1 | High |
| POFUT1 | NM_015352 | c.A307G | p.I103V | Exon 3 | Het | 20q11.21 | rs759090331 | - | Mis | 0.37 | 0.036 | 0.931 | High |
| FLG | NM_002016 | c.C7764A | p.S2588S | Exon 3 | Het | 1q21.3 | rs561395256 | 0.0143 | Syn | - | - | - | Medium |
| KRT2 | NM_000423 | c.303_304insGGC | p.F102delinsGF | Exon 1 | Hom | 12q13.13 | rs56850150 | 0.5389 | Nonfs ins | - | - | - | Medium |
| KRT2 | NM_000423 | c.300_301insGGCTTTGGAGGCGGC | p.S101delinsGFGGGS | Exon 1 | Hom | 12q13.13 | rs57149265 | 0.5421 | Nonfs ins | - | - | - | Medium |
| TGM5 | NM_201631 | c.A509G | p.Q170R | Exon4 | Het | 15q15.2 | rs115121346 | 0.0025 | Mis | 0.858 | 0.343 | 0.83 | High |
Priority: The priority score of mutations is divided into four levels: High, likely high, medium, and low, the high level indicates that the site is located in gene’s exonic region, in the East Asian population (1000G, ExAC, gnomAD) frequencies are less than 0.01, resulting in changes in amino acids, and at least one protein prediction software predicts a detrimental result; the medium level indicates the site is located in the exonic or splicing region of the gene, and there is at least one result in which the frequency is less than 0.01 in the East Asian population (1000G, ExAC, gnomAD). RefSeq: NCBI Reference Sequence; Mut: Mutation; Het: Heterozygote; Hom: Homozygous; Cytoband: The chromosome segment in which the mutation is located; Mis: Missense mutation; Syn: Synonymous; Nonfs ins: Nonframeshift insertion; FRE: Frequency; EAS: Genome Aggregation Database East Asia; Polyphen2_HVAR_score: PolyPhen2 software is based on the HumanVar database to predict the impact of this variation on protein sequences; SNP: Single-nucleotide polymorphism; MAF: Minor allele frequency.