mtDNA Allele Examples

This page gives guidelines for describing mtDNA variants
Examples have the reference sequence on top and the variant sequence on the bottom

Example 1: A-G polymorphism at position 6

1	2	3	4	5	6	7	8	9	10
G	A	T	C	A	C	A	G	G	T
G	A	T	C	A	G	A	G	G	T

Example 2: 2bp deletion beginning at position 314

311	312	313	314	315	316	317	318	319	320
C	C	C	C	C	G	C	T	T	C
C	C	C	-	-	G	C	T	T	C

Note that convention is to describe the deletion as occurring at the end of the run of Cs.
Contiguous deletions, as in this example, are assumed to be part of the same deletion event.

Example 3: 2bp insertion after position 315

311	312	313	314	315			316	317	318	319	320
C	C	C	C	C	-	-	G	C	T	T	C
C	C	C	C	C	C	C	G	C	T	T	C

Note that convention is to describe the insertion as occurring at the end of the run of Cs.
Contiguous insertions, as in this example, are assumed to be part of the same insertion event.

This topic: MITOMASTER > VariantSubmission > AlleleExamples
Topic revision: 12 Feb 2016, MartyBrandon

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