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Report date: 05/31/18 View All Variants

Most Frequent Variants in Mitomap ("Top 40")

Analysis of 45,494 GenBank sequences, consisting of 5889 lineage L sequences (12.94%), 9765 lineage M sequences (21.46%), and 29840 lineage N sequences (65.59%)

Variants present at ≥80% in lineages L, M, or N (in yellow)

rCRS Position Allele HGVS
Notation
Overall Variant
Count
Overall Variant
Frequency
Variant Frequency
in lineage L *
Variant Frequency
in lineage M *
Variant Frequency
in lineage N
*
Ancestral
SNP **
A 8860 G m.8860A>G 44905 98.71% 99.20% 99.15% 98.46% Yes
A 15326 G m.15326A>G 44882 98.65% 99.56% 99.08% 98.34% Yes
A 750 G m.750A>G 44656 98.16% 95.04% 99.68% 98.27% Yes
A 4769 G m.4769A>G 44461 97.73% 99.13% 99.58% 96.85% Yes
A 263 G m.263A>G 43215 94.99% 83.90% 97.97% 96.20% Yes
A 1438 G m.1438A>G 43182 94.92% 83.66% 96.01% 96.78% Yes
C 7028 T m.7028C>T 36774 80.83% 99.76% 99.68% 70.93% Yes
A 2706 G m.2706A>G 35948 79.02% 92.12% 96.69% 70.65% Yes
G 11719 A m.11719G>A 35264 77.51% 99.73% 99.61% 65.90% Yes
C 14766 T m.14766C>T 35026 76.99% 99.78% 96.08% 66.25% Yes
A 73 G m.73A>G 34544 75.93% 85.24% 98.59% 66.68% Yes
A 10398 G m.10398A>G 20416 44.88% 95.13% 99.47% 17.09% Yes
C 12705 T m.12705C>T 19358 42.55% 99.58% 99.32% 12.72% Yes
C 16223 T m.16223C>T 18043 40.45% 92.39% 94.82% 12.41% Yes
T 9540 C m.9540T>C 15615 34.32% 99.73% 99.53% 0.08% Yes
T 10873 C m.10873T>C 15611 34.31% 99.66% 99.47% 0.10% Yes
A 8701 G m.8701A>G 15610 34.31% 99.35% 99.01% 0.30% Yes
G 15301 A m.15301G>A 13389 29.43% 59.93% 99.31% 0.54% No
T 489 C m.489T>C 11773 25.88% 0.07% 98.26% 7.29% No
G 15043 A m.15043G>A 10774 23.68% 1.73% 99.24% 3.29% No
C 10400 T m.10400C>T 9734 21.40% 0.08% 99.57% 0.02% No
T 14783 C m.14783T>C 9708 21.34% 0.00% 99.08% 0.11% No
 

Additional variants present at ≥50% in lineages L, M, or N (in light blue), or in ≥10,0000 sequences overall (in light gray)

rCRS Position Allele HGVS
Notation
Overall Variant
Count
Overall Variant
Frequency
Variant Frequency
in lineage L *
Variant Frequency
in lineage M *
Variant Frequency
in lineage N
*
Ancestral
SNP **
T 16519 C m.16519T>C 28519 62.69% 63.53% 55.78% 64.78% Yes **
T 310 C m.310T>C 18601 40.89% 35.37% 41.07% 41.92% No
C 315 CC m.315C>CC 13759 30.24% 38.61% 27.62% 29.45% No
T 152 C m.152T>C 12233 26.89% 63.42% 21.04% 21.59% Yes
C 309 CCT m.309_310insCT 12079 26.55% 16.90% 30.19% 27.275% No
T 16189 C m.16189T>C 11566 25.42% 51.98% 14.72% 23.69% Yes
CA 514 d m.513_516del 11096 24.39% 52.01% 24.26% 18.98% (Yes) **
T 16311 C m.16311T>C 8989 19.76% 52.11% 15.81% 14.66% Yes
T 195 C m.195T>C 8956 19.69% 55.44% 15.14% 14.12% Yes
C 16278 T m.16278C>T 4867 10.70% 51.10% 6.24% 4.19% Yes
G 769 A m.769G>A 3814 8.38% 64.19% 0.02% 0.11% Yes
G 7521 A m.7521G>A 3813 8.38% 62.06% 0.45% 0.38% Yes
G 1018 A m.1018G>A 3806 8.37% 64.10% 0.11% 0.07% Yes
C 13650 T m.13650C>T 3681 8.09% 62.10% 0.07% 0.06% Yes
C 3594 T m.3594C>T 3675 8.08% 62.22% 0.03% 0.03% Yes
A 4104 G m.4104A>G 3657 8.04% 61.95% 0.00% 0.03% Yes
C 7256 T m.7256C>T 3650 8.02% 61.47% 0.20% 0.03% Yes
A 13105 G m.13105A>G 3545 7.79% 54.22% 1.26% 0.77% Yes

 

* Top Level Haplogroups of Lineages L, M, and N
  • Lineage L ("African"): L0, L1, L2, L3, L4, L5, L6
  • Lineage M ("Asian"): C, D, E, G, M, Q, Z
  • Lineage N ("Eurasian"): A, B, F, H, HV, I, J, K, N, O, P, R, S, T, U, V, W, X, Y

**Ancestral SNPs are common throughout the human mtDNA tree. These ancestral variants, the "RSRS50", are: 73G, 146C, 152C, 195C, 247A, 263G, 750G, 769A, 825A, 1018A, 1438G, 2706G, 2758A, 2885C, 3594T, 4104G, 4312T, 4769G, 7028T, 7146G, 7256T, 7521A, 8468T, 8655T, 8701G, 8860G, 9540C, 10398G, 10664T, 10688A, 10810C, 10873C, 10915C, 11719A, 11914A, 12705T, 13105G, 13276G, 13506T, 13650T, 14766T, 15326G, 16129A, 16187T, 16189C, 16223T, 16230G, 16278T, 16311C, 16519C. Additionally, the RSRS ancestor sequence has two single base deletions, 523d & 524d, located at the end of a string of CA repeats; these are notated by proxy above as 514CA>d. Indels in this region are various and common. Similar length variations are abundant in the region flanked by 308_316. The mutations 309.1C(C), 315.1C, AC indels in region 514_525, and the SNP 16519C are among those specifically excluded by Phylotree in the construction of their master tree.

Topic revision: r6 - 31 May 2018, MarieLott
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