Table 2.
Rare variants of MT-RNR1 identified in individuals with hearing loss but absent from 118 YRI control mitochondrial genomes.
| Variant position in mitochondria genome RefSeq NC_012920.1 | dbSNP number | Conservation (45 species compared) from Mitomap | GenBank frequency in Mitomap based on 52,633 full length sequences (number of GenBank sequences in which it was found) | Family ID and carriers | Other likely cause of HL identified in this family | Previously reported |
|---|---|---|---|---|---|---|
| m.813A>G | rs878985110 | 22.22% | 0.41% (216) | 62 (I.2, II.1b) | No | Yes |
| m.955AC>A also known as m.956delC also known as m.960delC | rs111033185 | N/A | 0.10% (52)a | 53 (I.2b, II.1) | No | Yes |
| m.955A>ACC also known as m.960C>CCC also known as m.956-960insCC | rs111033185 | N/A | 0.13% (66)a | 45 (I.2b, II.1, II.2b) | No | Yes |
| m.959C>T | ND | 11.11% | 0.05% (24) | 54 (I.2b, II.5, II.6) | No | Yes |
| m.961T>C, insCn | ND | N/A | ND | 56 (I.2, II.1b) | Yes | Yes |
| m.1131C>T | ND | 33.33% | ND | 42 (I.2b, II.2) | No | No |
| m.1290C>T | rs1556422517 | 28.89% | 0.05% (24) | 26 (I.2b, II.4, II.5b) | Yes | Yes |
| m.1555A>G | rs267606617 | 86.67% | 0.15% (78) | 60 (I.2, II.1b) | Yes | Yes |
Each variant was only detected in one family. Conservation values are based on the comparison of 45 species (Mitomap). Variant frequency values correspond to GenBank frequency in Mitomap based on 52,633 full length sequences.
The haplogroup lineage distribution of the Mitomap’s reference sequences is N: 67%, L: 12%, and M: 21%.
ND no record in the database, HL hearing loss, ND no record in the database, N/A not applicable.
aThe frequency reported here corresponds to the sum of the frequencies reported for each way this variant was reported.
bCarrier without HL.