Clinical Phenotypes (non-LHON) Associated with mtDNA Polypeptide Gene Mutations Reported in the Literature

MTATP6

Syndromes Locus Disease* Allele Nucleotide Change AA Change Ho He Status** References
Dystonia MTND1 Adult-Onset Dystonia A3796G A-G T164A - + Prov (64)
Dystonia,Leigh Syndrome MTND6 LS/Dystonia T14487C T-C M63V - + Cfrm (65)
Dystonia,Leigh Syndrome MTND6 LDYT/LS G14459A G-A A72V + + Cfrm (26), (32)
Leigh Syndrome MTND3 LS T10158C T-C S34P - + Cfrm (36)
Leigh Syndrome MTND3 LS-like/ESOC T10191C T-C S45P - + Cfrm (71)
Leigh Syndrome MTND4 LS C11777A C-A R340S - + Cfrm (19)
Leigh Syndrome MTND5 LS T12706C T-C F124L - + Cfrm (70)
Leigh syndrome MTATP6 LS/FBSN T9176C T-C L217P + + Prov (73)
Leigh Syndrome MTATP6 LS T9176G T-G L217R - + Prov (10)
Leigh Syndrome MTATP6 LS T9185C T-C L220P - + Prov (45)
Leigh Syndrome MTATP6 LS T9191C T-C L222P - + Prov (45)
Leigh Syndrome MTATP6 LS/NARP T8993C T-C L156P - + Cfrm (11, 18, 41, 58)
NARP T8993G T-G L156R - + Cfrm (12, 24, 25, 47, 48, 51, 59, 63, 67, 68)
Leigh Syndrome MTCO3 LS-like C9537insC C-CC Q111frameshift + - Prov (74)
 
Encephalomyopathy, MELAS MTND1 MELAS T3308C T-C M1T - + Prov (9)
Encephalomyopathy, MELAS MTND1 MELAS/LHON G3376A G-A E24K - + Prov (6)
Encephalomyopathy, MELAS MTND1 MELAS G3697A G-A G131S - + Prov (33)
Encephalomyopathy, MELAS MTND1 MELAS G3946A G-A E214K + + Prov (33)
Encephalomyopathy, MELAS MTND1 MELAS T3949C T-C Y215H - + Prov (33)
Encephalomyopathy, MELAS MTND4 MELAS A11084G A-G T109A + + P.M. (38, 57)
Encephalomyopathy, MELAS MTND5 MELAS A12770G A-G E145G - + Prov (40)
Encephalomyopathy, MELAS MTND5 MELAS/LHON/ LS overlap syndrome A13045C A-C M237L - + Prov (40)
Encephalomyopathy, MELAS MTND5 MELAS/LS A13084T A-T S250C - + Prov (16)
Encephalomyopathy, MELAS MTND5 MELAS/LS G13513A G-A D393N - + Cfrm (60)
Encephalomyopathy, MELAS MTND5 MELAS A13514G A-G D393G - + Cfrm (15)
Encephalomyopathy, MELAS MTND6 MELAS G14453A G-A A74V - + Prov (54)
Encephalomyopathy, MELAS MTCYB MELAS/PD 14787del4 TTAA-del I14frameshift - + Prov (17)
Epilepsy MTCO1 Therapy-resistant Epilepsy C6489A C-A L196I - + Prov (76)
Encephalomyopathy, Multisystem Disorder MTCO1 Multisystem Disorder G6930A G-A G343Ter - + Prov (7)
Encephalomyopathy, Multisystem Disorder MTCOI Myopathy and Cortical Lesions 6015del5 Del 5 bp Frameshift, 42 peptide

-

+ Prov (14)
Encephalomyopathy MTCO2 Encephalomyopathy T7587C T-C M1T - + Prov (13)
Encephalomyopathy, Multisystem Disorder MTCO2 Multisystem Disorder G7896A G-A W104Ter - + Prov (8)
Encephalomyopathy, Lactic Acidosis MTCO2 Lactic Acidosis 8042del2 AT-del M153Ter - + Prov (81)
Encephalomyopathy MTCO3 Encephalomyopathy G9952A G-A W248Ter - + Prov (23)
Encephalomyopathy, MELAS MTCO3 MELAS/PEM/ NAION T9957C T-C F251L - + Prov (43)
Encephalomyopathy, Lactic Acidosis MTATP6 Lactic Acidosis/ Seizures 9205del2 TA-del Ter227M + - Prov (72)
Encephalomyopathy, Lactic Acidosis MTCYB Multisystem Disorder A15579G A-G Y278C - + Prov (80)
Encephalomyopathy, Septo-Optic Dysplasia MTCYB Septo-Optic Dysplasia T14849C T-C S35P - + Prov (61)
 
MM, Exercise Intolerance MTCYB EXIT G14846A G-A G34S - + Prov (4)
Mitochondrial Myopathy MTCYB MM G15059A G-A G190Ter - + Prov (1)
MM, Exercise Intolerance MTCYB EXIT G15084A G- A W113Ter - + Prov (4)
MM, Exercise Intolerance MTCYB EXIT G15150A G-A W135Ter - + Prov (37)
MM, Exercise Intolerance MTCYB EXIT G15168A G-A W141Ter - + Prov (4)
MM, Exercise Intolerance MTCYB EXIT T15197C T-C S151P - + Prov (37)
MM, Exercise Intolerance MTCYB EXIT/Encephalomyopathy G15242A G-A G166Ter - + Prov (28, 31)
MM, Exercise Intolerance MTCYB EXIT G15497A G-A G251S + - Prov (66)
MM, Exercise Intolerance MTCYB EXIT 15498del24 24 bp deletion- 251GDPDNYTL-del258 - + Prov (4)
MM, Exercise Intolerance MTCYB EXIT G15615A G-A G290D - + Prov (20)
MM, Exercise Intolerance MTCYB EXIT G15723A G-A W326Ter - + Prov (4)
Mitochondrial Myopathy MTCYB MM G15762A G-A G339E - + Prov (2)
MM, CPEO MTND4 CPEO T11232C T-C L140P - + Prov (52)
MM, Exercise Intolerance MTND4 EXIT G11832A G-A W358Ter - + Prov (5)
MM, Exercise Intolerance MTCO1 EXIT/Myoglobinuria G5920A G-A W6Ter - + Prov (27)
Mitochondrial Myopathy MTCO1 MM & Rhabdomyolysis G6708A G-A G269Ter - + Prov (34)
Mitochondrial Myopathy MTCO2 MM T7671A T-A M29K - + Prov (53)
MM, Exercise Intolerance MTCO2 EXIT/Rhabdomyolysis T7989C T-C L135P - + Prov (44)
Mitochondrial Myopathy MTCO3 Myopathy and Myoglobinuria 9487del15 Del 15 bp Removed 5 aa + Prov (29)
 
Hypertrophic Cardiomyopathy MTCYB HCM G15243A G-A G166E - + Prov (75)
Hypertrophic Cardiomyopathy MTCYB HCM G15498A G-A G251D - + Prov (3)
 
Deafness MTCO1 DEAF A7443G A-G Ter514G + - Prov (49)
Deafness MTCO1 DEAF A7445C A-C Ter514S + - Prov (49)
Deafness-Sensory Neural Hearing Loss MTCO1 SNHL/LHON G7444A G-A Ter514K + - Prov (49)
Deafness-Sensory Neural Hearing Loss MTCO1 SNHL A7445G A-G Ter514Ter + + Cfrm (22, 55, 56, 77)
Deafness-Sensory Neural Hearing Loss MTCO2 SNHL A8108G A-G I175V + - Prov (79)
Deafness-Sensory Neural Hearing Loss MTND6 SNHL C14340T C-T V112M + - Prov (79)
 
Diabetes Mellitus MTND1 NIDDM/PEO G3316A G- A A4T + - Unclear (46)
Diabetes Mellitus MTND4 DM A12026G A-G I423V + - Prov (69)
 
Alzheimer & Parkinson Disease MTND1 ADPD A3397G A-G M31V + - Prov (62, 78)
Alzheimer & Parkinson Disease MTND2 AD G5460A G-A A331T + + P.M. (35, 39, 50)
Alzheimer & Parkinson Disease MTND2 AD G5460T G-T A331S + + Prov (35, 39, 50)
 
Idiopathic Sideroblastic Anemia MTCO1 SIDA T6721C T-C M273T - + Prov (21)
Idiopathic Sideroblastic Anemia MTCO1 SIDA T6742C T-C I280T - + Prov (21)
 

Abbreviations
Plasmy: Ho, homoplasmy; He, heteroplasmy
* Disease: AD, Alzheimer's Disease; ADPD, Alzheimer's Disease and Parkinsons's Disease; CPEO, Chronic Progressive External Ophthalmoplegia; EXIT, exercise intolerance; LHON Leber Hereditary Optic Neuropathy; LS, Leigh Syndrome; MELAS, Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes; MM, mitochondrial myopathy; NAION Nonarteritic Anterior Ischemic Optic Neuropathy; NARP, Neurogenic muscle weakness, Ataxia, and Retinitis Pigmentosa; NIDDM, Non-Insulin Dependent Diabetes Mellitus; SIDA, sideroblastic anemia; SNHL, Sensorineural Hearing Loss.
* *Status: Cfrm, considered confirmed by multiple reports in the literature; Prov, provisional isolated report(s), not yet confirmed by multiple labs; P.M., reported originally in the literature at pathogenic but now generally considered to be a polymorphic variant.

References

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This table is reproduced with permission from PRINCIPLES AND PRACTICE OF MEDICAL GENETICS, 5/e. � 2006 Elsevier Ltd.
Topic revision: r1 - 15 Sep 2015, UnknownUser
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