Non-synonymous MT-CYB mutations identified in patients with CMPs.
Variant
dCMP ()
hCMP ()
Co ()
Amino acid position, physicochemical property
CI
Haplogroup specific variant
Status
C14766T
30/40
7/30
26/50
T7I, polar (T) to non polar (I)
0.279
B2a1a, M2b, E1a1, HV
Polymorphism
A14769G
2/40
0/30
0/50
N8S, medium, polar (N) to small, polar (S)
0.581
L1b, L3f1b, L3f1b
Polymorphism
T14798C
1/40
0/30
5/50
F18L, large, aromatic (F) to medium, hydrophobic (L)
0.581
J1c, T2g, K, L1c6
Polymorphism
A14927G
1/40
0/30
0/50
T61A, medium, polar (T) to small, hydrophobic (A)
0.581
D4b1a, D5c, U6a1
Polymorphism
G15257A
1/40
0/30
0/50
D171N, medium, acidic (D) to medium, polar (N)
0.860
K1b1a, M71a1, J2
Possibly deleterious
G15314A
1/40
0/30
1/50
A190T, small, hydrophobic (A) to medium, polar (T)
0.326
R9b2, L3j, L3k, M38, D4a1a1, P4a, L3j,
Polymorphism
A15326G
8/40
5/30
49/50
T194A, medium, polar (T), to small, hydrophobic (A)
0.442
Z3a1, H2a2a, R7b1a, R8a
Polymorphism
C15434A
1/40
0/30
0/50
L230I, both residues are medium and hydrophobic.
0.977
Non-haplogroup variants
Novel missense mutation
C15452A
2/40
0/30
6/50
L236I, similar physicochemical property, both residues are medium size and hydrophobic
0.744
JT
Polymorphism
G15803A
1/40
0/30
0/50
V353M, similar physicochemical property, both residues are medium size and hydrophobic
0.395
L2a2a
Polymorphism
G15884C
1/40
0/30
0/50
A380P, small, hydrophobic (A) to medium, hydrophobic (P)
0.047
L0F2b
Polymorphism
The tool PolyPhen-2 (http://genetics.bwh.harvard.edu/pph2/) was used for predicting the damaging effect of a missense mutation. The conservation index (CI) was computed by using MitoTool (http://www.mitotool.org/). The presence of the mutation as a haplogroup-specific variant was scored relative to the available global mtDNA phylogenetic tree by using Phylotree (http://phylotree.org/tree/main.htm). Co: controls.
