Table 2. .
NOBOX Sequencing Results in 96 White Women with POF
| Allele Frequency(%) |
|||||||||
| Patients with POF |
Controls |
||||||||
| Sequence Variation |
Location | Amino Acid Variation | dbSNP ID | Wild Type |
Heterozygote | Homozygote | Wild Type |
Heterozygote | Referencea |
| c.42T→C | Exon 1 | Synonymous | rs1208179 | 71.9 | 28.1 | 0 | d, e | ||
| c.66T→C | Exon 1 | Synonymous | Novel | 98.96 | 1.04 | 0 | 100 | 0 | d, e |
| c.262C→T | Exon 3 | Synonymous | rs727714 | 11.5 | 45.8 | 42.7 | d, e | ||
| c.1064G→A | Exon 6 | p.Arg355His | Novel | 99.0 | 1.01 | 0 | 100 | 0 | d, e |
| c.1079G→Ab | Exon 6 | p.Arg360Gln | Novel | 99.0 | 1.01 | 0 | 99.3 | .7 | d, e |
| c.1154+11T→C | Intron 6 | rs757388 | 11.5 | 45.8 | 42.7 | d, e | |||
| c.1155−22G→A | Intron 6 | rs11769847 | 11.5 | 45.8 | 42.7 | d, e | |||
| c.1354G→Ab | Exon 8 | p.Asp452Asn | Novel | 99.0 | 1.01 | 0 | 94.8 | 5.2 | d, e |
| c.1444G→A | Exon 8 | p.Gly482Ser | rs2525702 | 72.9 | 26.0 | 1.1 | d, e | ||
| c.603–51G→T | Intron 8 | rs11979528 | 29.2 | 44.8 | 26.0 | f, g | |||
| c.682T→C | Exon 9 | p.Phe228Leu | rs2699503 | 14.6 | 47.9 | 37.5 | f, g | ||
a
d = GenBank accession number NM_001080413. e = NCBI protein database accession number XP_001134420. f = Ensembl accession number ENST00000389325. g = Ensembl accession number ENSP00000373976.
b
Allelic frequencies between the general population and patients with POF show no significant differences (Fisher’s exact test P>.05)