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Table 1 Frequencies of rare variants in MT-RNR1 (positions 648–1601) and MT-RNR2 (positions 1671–3229) among children with HI and in database sequences

From: Mutations in the two ribosomal RNA genes in mitochondrial DNA among Finnish children with hearing impairment

 

Children with HI

HmtDB

Mitomap’s GenBank set

 

(N = 103)

Europeans (N = 4535)

All continents (N = 16,231)

(N = 26,851)

Variant

(N)

(%)

(N)

(%)

(N)

(%)

(N)

(%)

740G > A

1

0.97

15

0.33

22

0.14

25

0.09

896A > G

1

0.97

14

0.31

20

0.12

31

0.12

958C > T

1

0.97

1

0.02

5

0.03

8

0.03

990 T > C

1

0.97

3

0.07

11

0.07

17

0.06

1341C > T

1

0.97

5

0.11

7

0.04

18

0.07

2098G > A

1

0.97

18

0.40

33

0.20

47

0.18

2405c-cc

2

1.94

2

0.04

3

0.02

27

0.10

2445 T > C

2

1.94

4

0.09

6

0.04

9

0.03

  1. Common polymorphisms in MT-RNR1, frequency in Genbank (26,851 complete or near-complete sequences in Mitomap’s GenBank Set): m.709G > A (13.1%), m.930G > A (2.1%), m.961 T > G (0.4%), m.1243 T > C (1.9%). Common polymorphisms in MT-RNR2: m.1719G > A (5.0%), m.1721C > T (0.7%), m.1811A > G (8.0%), m.1888G > A (5.7%), m.2259C > T (0.7%), m.2706A > G (76.1%), m.3010G > A (16.9%), m.3116C > T (0.3%), m.3197 T > C (4.4%). HmtDB: Human Mitochondrial Database, http://www.hmtdb.uniba.it.
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BMC Medical Genetics

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