Table 2

Characterization of positions presenting heteroplasmy.

Family

Position

Type of mutation and Implication

Homoplasmic individuals of the family/Referencea/Chimpanzeeb

Germline

Number of hitsc

Population Database frequency


AV

3260 A>G

Substitution in the tRNALeu associated with Myopaty and Cardiomiopaty

A/A/A

Yes

0

100% A 0% G

CG_II

3396 T>C

Synonymous substitution in ND1

T/T/C

No?

4

99.73% T 0.27% C

JS

3602 A>G

Nonsynonymous substitution in ND1 that implies an Asparagine to Serine amino acid change.

A/A/A

Yes

0

100% A 0% G


a. Ingman et al. [28], GenBank accession number NC_001807

b. Arnason et al. [44], GenBank accession number X93335

c. Based on the mtDNA phylogeny available on Ruiz-Pesini et al. [45]

Santos et al. BMC Evolutionary Biology 2008 8:167   doi:10.1186/1471-2148-8-167

Open Data