Table 2 Summary of results of the massively parallel exome sequencing of two patients with monoallelic mutations in SLC26A4. All variants were found in heterozygous state
From: Mutation analysis of SLC26A4 (Pendrin) gene in a Brazilian sample of hearing-impaired subjects
Patient | Gene | Nucleotide | Protein | dbSNP | Deafness Variation Database | SIFT (score), PolyPhen2 (score), MutationTaster (score), Splice Prediction Tools | 1000g | ESP6500 | Abraom |
|---|---|---|---|---|---|---|---|---|---|
71 | SLC26A4 | c.1246A>C | T416P | rs28939086 | Pathogenic | Damaging (0), Probably Damaging (0.995), Disease causing (0.971541) | 0.0000 | 0.0000 | 0.0000 |
GJB2 | c.457G>A | V153I | rs111033186 | benign | Tolerated (1), Benign (0.007), Disease causing (0.8156) | 0.0013 | 0.00223 | 0.0032 | |
TMIE | c.218C>T | T73M | rs770957465 | unknown significance | Tolerated (0.156), Probably Damaging (1), Disease causing (0.999) | 0.000 | 0.000 | 0.000 | |
USH1C | c.1823C>G | P608R | rs41282932 | Pathogenic | Damaging (0.002), Probably Damaging (0.984), Disease causing ( 0.9815) | 0.000 | 0.001 | 0.000 | |
MIR96 | 129414574A>G | rs41274239 | benign | - | 0.0010 | 0.0033 | 0.0032 | ||
PCDH15 | c.4109_4110insGCCGCC | p.P1370delinsPPP | - | not described | -, -. Polymorphism (0.999) | 0.0018 | 0.000 | 0.0016 | |
PCDH15 | c.5134_5136del | p.1712_1712del | rs397517462 | not described | -, -. Polymorphism (0.999) | 0.000 | 0.031 | 0.0032 | |
83 | SLC26A4 | c.918+2T>C | - | - | Pathogenic | -, -, Disease causing (1), splice donor site abolished | 0.000 | 0.000 | 0.0008 |
MYO7A | c.2463G>C | Q821H | - | not described | Damaging (0), Probably Damaging (1), Disease causing (0.9999) | 0.000 | 0.000 | 0.000 | |
GJB6 | c.460T>A | F154I | - | not described | Damaging (0.022), Damaging (0.986), Disease causing (0.9987) | 0.000 | 0.000 | 0.000 | |
P2RX2 | c.A275G | p.Q92R | rs142844880 | unknown significance | Tolerable (0.116), Benign (0.098), Disease causing (1) | 0.0004 | 0.0004 | 0.000 | |
POLD1 | c.C211T | p.P71S | not described | Tolerable (0.879), Benign (0), non-disease causing (1) | 0.000 | 0.000 | 0.000 | ||
TSPEAR | c.1185G>T | E395D | rs143303485 | not described | Tolerated (0.420), Benign (0.02), Polymorphism | 0.0002 | 0.0002 | 0.000 |