Table 3. Ten novel mitochondrial SNPs.
| Location | Mutation | Conservation in 61 species (base) (/61) | Conservation rate (base) (%) | Amino-acid change | Conservation in 61 species (amino acid) (/61) | Conservation rate (amino acid) (%) | Amino-acid number/all amino acid of locus | Control (/192) | Mode of inheritance | Type of hearing loss |
|---|---|---|---|---|---|---|---|---|---|---|
| 16S rRNA | 2069T>C | 16 | 31.4 | — | — | — | — | 0 | AD or Mita | High frequency |
| 16S rRNA | 2285T>C | 22 | 43.1 | — | — | — | — | 0 | AD or Mita | High frequency |
| 16S rRNA | 2285T>G | 22 | 43.1 | — | — | — | — | 0 | Sporadic | Dish shaped |
| 16S rRNA | 2634T>C | 34 | 66.7 | — | — | — | — | 0 | Sporadic | Profound |
| ND1 | 3595A>G | 54 | 88.5 | Asn>Asp | 54 | 88.5 | 97/318 | 0 | AD or Mita | High frequency |
| COI | 6204A>G | 61 | 100 | Ser>Gly | 61 | 100 | 101/513 | 0 | AD or Mita | High frequency |
| ATPase6 | 9124A>G | 60 | 98.4 | Thr>Ala | 59 | 96.7 | 200/226 | 0 | Sporadic | Unilateral |
| ND4L | 10680G>A | 59 | 96.7 | Ala >Thr | 59 | 96.7 | 71/98 | 0 | Sporadic | Unknown |
| ND5 | 13153A>G | 44 | 72.1 | Ile >Val | 35 | 57.4 | 273/603 | 0 | Sporadic | High frequency |
| Cytb | 15003G>C | 61 | 100 | Gly >Ala | 61 | 100 | 86/380 | 0 | Sporadic | Profound |
Abbreviation: SNPs, single-nucleotide polymorphisms
a
AD or Mit; autosomal dominant inheritance or maternal inheritance.