Table 2.
Rare variants in SERPINF1 identified in a cohort of unrelated individuals with familial otosclerosis
| Transcript SERPINF1-001 | Transcript SERPINF1-012 | ||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Sample ID | Identifier | Otosc (n) | Controls | 1000G | NHLBI | Nucleotide exchangea | Exon | Protein effect | Nucleotide exchangeb | Exon | Protein effect |
| OTSC147 | rs76119062 | 0.9% (1)c | – | n.d. | 0.01% | c.167C>G | 3 | p.Ala56Gly | – | – | – |
| OTSC140 | None | 0.9% (1)c | – | n.d. | n.d. | c.331G>A | 4 | p.Asp111Asn | – | – | – |
| OTSC383 | rs148005190 | 0.9% (1)c | – | n.d. | 0.08% | c.392C>A | 4 | p.Ala131Asp | – | – | – |
| OTSC319 | None | 0.6% (1)d | n.d. | n.d. | n.d. | c.440-40_440- 38delTCG | – | – | c.-202_-200 delTCG | 1 | 5′-UTR |
| OTSC354; OTSC161 | rs138341386 | 1.1% (2)d | n.d. | n.d. | 0.03% | c.441G>C | 5 | p.Lys147Asn | c.-161G>C | 1 | 5′-UTR |
| OTSC134 | rs137997656 | 0.6% (1)d | n.d. | n.d. | n.d.e | c.601G>A | 5 | p.Asp201Asn | c.-1G>A | 1 | 5′-UTR |
Allele frequencies of the variants are shown in the unrelated otosclerosis cohort, Otosc; a control cohort (n = 175), Controls; the 1000 Genomes Project (Phase 3 European, n = 503), 1000G; and the NHLBI Exome Sequencing Project (ESP6500 European-Americans, n = 4300), NHLBI. Effects on the amino acid structure of SERPINF1-001 and SERPINF1-012 are shown. n.d., not detected.
aGenBank: NG_028180.1; Ensembl Transcript: ENST00000254722.
bEnsembl Transcript: ENST00000573763.
cn = 57.
dn = 88.
eThe individual with c.601G > A is of mixed European and Caribbean origin; the frequency of c.601G > A in NHLBI ESP6500 cohort Americans of African extraction is 0.3% (n = 2203).