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. Author manuscript; available in PMC: 2020 May 1.
Published in final edited form as: Hum Mutat. 2019 Mar 4;40(5):499–515. doi: 10.1002/humu.23723

Figure 2. Variant map of variants in MT-ATP6 mapped by protein domain.

Figure 2.

A. Reported pathogenic variants in MT-ATP6 mapped across its five transmembrane domains. The area of each circle is proportional to the number of reported patients. B. Reported MT-ATP6 variants in a new cohort reported in this publication (n=16). White circles represent variants re-classified as benign, yellow circles represent variants re-classified as likely benign, orange circles represent VUS, and red circles represent variants re-classified as likely pathogenic. C: List of all mutations including protein changes and classification.