Table 2 Representative predicted pathogenic variants and allele frequency of HH included in this study
From: Correlation of genotype and phenotype in 32 patients with hereditary hemochromatosis in China
Gene | Location | Nucleotide change | Amino acid alteration | Mutation type | Frequency (this study) | Frequency (Asia/World) | Prediction of Pathogenicity (score) | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Polyphen-2 | SIFT | Mutation Taster | |||||||||
HJV | Exon 4 | c.963C>A | p.C321X | Nonsense | 7/32 | 5.798e−05/4.062e−06 | NA | NA | Disease causing (1) | ||
HJV | Exon 4 | c.842T>C | p. I281T | Missense | 2/32 | 5.798e−05 /8.121e−06 | Probably damaging (1.0) | Damaging (0.000) | Disease causing (0.999) | ||
HJV | Exon 4 | c.934C>T | p. Q312X | Nonsense | 1/32 | NA | NA | NA | Disease causing (1) | ||
HJV | Exon 3 | c.311A>G | p.H104R | Missense | 1/32 | NA | Probably damaging (0.999) | Damaging (0.000) | Disease causing (1) | ||
HJV | Exon 4 | c.820G>A | p. V274M | Missense | 1/32 | 0.0012/8.527e−05 | Probably damaging (0.997) | Tolerated (0.060) | Disease causing (0.986) | ||
HJV | Exon 3 | c.309C>G | p. F103L | Missense | 1/32 | NA | Probably damaging (0.649) | Damaging (0.000) | Disease causing (1) | ||
SLC40A1 | Exon 5 | c.430A>G | p. N144D | Missense | 1/32 | NA | Probably damaging (1.0) | Tolerable (0.067) | Disease causing (1) | ||
SLC40A1 | Exon 7 | c.997T>C | p. Y333H | Missense | 3/32 | NA | Probably damaging (1.0) | Damaging (0.022) | Disease causing (1) | ||
SLC40A1 | Exon 8 | c.1531G>A | p. V511I | Missense | 1/32 | NA | Probably damaging (0.984) | Damaging (0.000) | Disease causing (1) | ||
SLC40A1 | Exon 5 | c.485_487delTTG | p. v162del | Deletion | 1/32 | NA | – | – | – | ||
SLC40A1 | Intron | IVS3+10delGTT | – | Splicing | 1/32 | NA | – | – | – | ||
SUGP2 | Exon 5 | c.1916G>A | p. R639Q | Missense | 8/32 | 0.0388/0.0029 | Probably damaging (0.992) | Damaging (0.005) | Polymorphism (0.980) | ||
DENND3 | Exon 14 | c.2122C>G | p. L708V | Missense | 5/32 | 0.0333/0.0029 | Probably damaging (0.982) | Damaging (0.003) | Disease causing (1) | ||
HFE | Exon 4 | c.845G>A | p. C282Y | Missense | 1/32 | 0.0001/0.0332 | Probably damaging (1.0) | Damaging (0.000) | Disease causing (1) | ||
HFE | Exon 2 | c.211C>T | p. R71X | Nonsense | 1/32 | 0.0002/ 1.624e-05 | NA | NA | Disease causing (1) | ||