|
rs879053914
|
COX1;COX2
|
Glaucoma, Primary Open Angle
|
|
0.010 |
GeneticVariation |
BEFREE |
We investigate the function of the V83I polymorphism (m.6150G>A, rs879053914) in the mitochondrial cytochrome c oxidase subunit 1 (MT-CO1) gene and its role in African American (AA) primary open-angle glaucoma (POAG).
|
29610859 |
2018 |
|
rs199476128
|
ATP8;COX1;COX2
|
Glaucoma, Primary Open Angle
|
|
0.010 |
GeneticVariation |
BEFREE |
However, the POAG case population was found to be enriched in L1c2 haplogroups, which are defined in part by missense mutations m.6150G>A (Val83Ile, odds ratio [OR] 1.8, p=0.01), m.6253C>T (Met117Thr, rs200165736, OR 1.6, p=0.04), and m.6480G>A (Val193Ile, rs199476128, OR 4.6, p=0.04) in the cytochrome c oxidase subunit 1 (MT-CO1) gene and by a variant, m.2220A>G (OR 2.0, p=0.01), in MT-RNR2, which encodes the mitochondrial ribosomal 16s RNA gene.
|
27217714 |
2016 |
|
rs200165736
|
COX1;COX2
|
Glaucoma, Primary Open Angle
|
|
0.010 |
GeneticVariation |
BEFREE |
However, the POAG case population was found to be enriched in L1c2 haplogroups, which are defined in part by missense mutations m.6150G>A (Val83Ile, odds ratio [OR] 1.8, p=0.01), m.6253C>T (Met117Thr, rs200165736, OR 1.6, p=0.04), and m.6480G>A (Val193Ile, rs199476128, OR 4.6, p=0.04) in the cytochrome c oxidase subunit 1 (MT-CO1) gene and by a variant, m.2220A>G (OR 2.0, p=0.01), in MT-RNR2, which encodes the mitochondrial ribosomal 16s RNA gene.
|
27217714 |
2016 |
|
rs201336180
|
ATP6;ATP8;COX2;COX3;ND3;ND4L
|
Optic Atrophy, Hereditary, Leber
|
|
0.010 |
GeneticVariation |
BEFREE |
Analyses of the complete mtDNA sequences from LHON families with m.11778G-->A narrow the association of disease expression to m.12811T-->C (Y159H) in the NADH dehydrogenase 5 gene (MT-ND5) in haplogroup M7b1'2 and suggest that the specific combination of amino acid changes (A20T-T53I) in the ATP synthase 6 protein (MT-ATP6) caused by m.8584G-->A and m.8684C-->T might account for the beneficial background effect of M8a.
|
19026397 |
2008 |
|
rs201336180
|
ATP6;ATP8;COX2;COX3;ND3;ND4L
|
Diabetes Mellitus, Non-Insulin-Dependent
|
|
0.010 |
GeneticVariation |
BEFREE |
A mtSNP, 8684C > T (T53I) in the mitochondrial ATP synthase subunit 6 gene (ATP6), was detected in 5 of the 96 patients with type-2 diabetes, whereas this substitution was not detected in any of the 96 young obese adults.
|
16060290 |
2005 |
|
rs1057516062
|
ATP6;ATP8;COX2;COX3;ND3
|
Optic Neuropathy
|
C |
0.700 |
GeneticVariation |
CLINVAR |
In silico analysis for predicting pathogenicity of five unclassified mitochondrial DNA mutations associated with mitochondrial cytopathies' phenotypes.
|
28027978 |
2017 |
|
rs387906422
|
ATP6;ATP8;COX2;COX3;ND3;ND4L
|
Histiocytoid Cardiomyopathy
|
C |
0.700 |
CausalMutation |
CLINVAR |
Rapidly progressive infantile cardiomyopathy with mitochondrial respiratory chain complex V deficiency due to loss of ATPase 6 and 8 protein.
|
26803244 |
2016 |
|
rs786200950
|
COX1;COX2;ND2;TRNA
|
Mitochondrial Myopathies
|
A |
0.700 |
CausalMutation |
CLINVAR |
Pathogenic mitochondrial mt-tRNA(Ala) variants are uniquely associated with isolated myopathy.
|
25873012 |
2015 |
|
rs786200951
|
COX1;COX2;ND2;TRNA
|
Mitochondrial Myopathies
|
A |
0.700 |
CausalMutation |
CLINVAR |
Pathogenic mitochondrial mt-tRNA(Ala) variants are uniquely associated with isolated myopathy.
|
25873012 |
2015 |
|
rs1569484151
|
ATP6;ATP8;COX1;COX2;COX3;TRNS1
|
DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL
|
T |
0.700 |
CausalMutation |
CLINVAR |
Role of the mitochondrial mutations, m.827A>G and the novel m.7462C>T, in the origin of hearing loss.
|
20722495 |
2010 |
|
rs387906419
|
ATP6;ATP8;COX1;COX2;COX3;TRNS1
|
MELAS Syndrome
|
A |
0.700 |
CausalMutation |
CLINVAR |
Extensive screening system using suspension array technology to detect mitochondrial DNA point mutations.
|
20064630 |
2010 |
|
rs724159989
|
ATP6;ATP8;COX1;COX2;COX3;TRNS1
|
DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL
|
C |
0.700 |
CausalMutation |
CLINVAR |
Maternally inherited hearing loss is associated with the novel mitochondrial tRNA Ser(UCN) 7505T>C mutation in a Han Chinese family.
|
20153673 |
2010 |
|
rs118192098
|
ATP6;ATP8;COX2;COX3;ND3;TRNK
|
MERRF Syndrome
|
G |
0.700 |
CausalMutation |
CLINVAR |
Demyelinating disease of central and peripheral nervous systems associated with a A8344G mutation in tRNALys.
|
19269823 |
2009 |
|
rs121434458
|
COX1;COX2;ND2;TRNA
|
MELAS Syndrome
|
A |
0.700 |
CausalMutation |
CLINVAR |
Pathogenic mitochondrial tRNA mutations--which mutations are inherited and why?
|
19718780 |
2009 |
|
rs387906422
|
ATP6;ATP8;COX2;COX3;ND3;ND4L
|
Histiocytoid Cardiomyopathy
|
C |
0.700 |
CausalMutation |
CLINVAR |
Infantile cardiomyopathy caused by a mutation in the overlapping region of mitochondrial ATPase 6 and 8 genes.
|
19188198 |
2009 |
|
rs118192098
|
ATP6;ATP8;COX2;COX3;ND3;TRNK
|
MERRF Syndrome
|
G |
0.700 |
CausalMutation |
CLINVAR |
Unusual presentations of patients with the mitochondrial MERRF mutation A8344G.
|
18657354 |
2008 |
|
rs199474818
|
ATP6;ATP8;COX1;COX2;COX3
|
DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL
|
C |
0.700 |
CausalMutation |
CLINVAR |
Mutations at position 7445 in the precursor of mitochondrial tRNA(Ser(UCN)) gene in three maternal Chinese pedigrees with sensorineural hearing loss.
|
18639500 |
2008 |
|
rs199474818
|
ATP6;ATP8;COX1;COX2;COX3
|
DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL
|
T |
0.700 |
CausalMutation |
CLINVAR |
Mutations at position 7445 in the precursor of mitochondrial tRNA(Ser(UCN)) gene in three maternal Chinese pedigrees with sensorineural hearing loss.
|
18639500 |
2008 |
|
rs118192098
|
ATP6;ATP8;COX2;COX3;ND3;TRNK
|
MERRF Syndrome
|
G |
0.700 |
CausalMutation |
CLINVAR |
MERRF syndrome without ragged-red fibers: the need for molecular diagnosis.
|
17275787 |
2007 |
|
rs118192098
|
ATP6;ATP8;COX2;COX3;ND3;TRNK
|
MERRF Syndrome
|
G |
0.700 |
CausalMutation |
CLINVAR |
Parkinson syndrome, neuropathy, and myopathy caused by the mutation A8344G (MERRF) in tRNALys.
|
17200493 |
2007 |
|
rs118192098
|
ATP6;ATP8;COX2;COX3;ND3;TRNK
|
MERRF Syndrome
|
G |
0.700 |
CausalMutation |
CLINVAR |
Resting muscle pain as the first clinical symptom in children carrying the MTTK A8344G mutation.
|
17293137 |
2007 |
|
rs199474818
|
ATP6;ATP8;COX1;COX2;COX3
|
DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL
|
C |
0.700 |
CausalMutation |
CLINVAR |
Mitochondrial tRNASer(UCN) gene is the hot spot for mutations associated with aminoglycoside-induced and non-syndromic hearing loss.
|
17659260 |
2007 |
|
rs199474818
|
ATP6;ATP8;COX1;COX2;COX3
|
DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL
|
T |
0.700 |
CausalMutation |
CLINVAR |
Mitochondrial tRNASer(UCN) gene is the hot spot for mutations associated with aminoglycoside-induced and non-syndromic hearing loss.
|
17659260 |
2007 |
|
rs118192098
|
ATP6;ATP8;COX2;COX3;ND3;TRNK
|
MERRF Syndrome
|
G |
0.700 |
CausalMutation |
CLINVAR |
Bilateral putaminal necrosis associated with the mitochondrial DNA A8344G myoclonus epilepsy with ragged red fibers (MERRF) mutation: an infantile case.
|
16551460 |
2006 |
|
rs121434458
|
COX1;COX2;ND2;TRNA
|
MELAS Syndrome
|
A |
0.700 |
CausalMutation |
CLINVAR |
Pure myopathy associated with a novel mitochondrial tRNA gene mutation.
|
16476954 |
2006 |