MC5DN1
MCID: MTC029
MIFTS: 40

Mitochondrial Complex V Deficiency, Nuclear Type 1 (MC5DN1)

Categories: Cardiovascular diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Respiratory diseases

Aliases & Classifications for Mitochondrial Complex V Deficiency, Nuclear Type 1

MalaCards integrated aliases for Mitochondrial Complex V Deficiency, Nuclear Type 1:

Name: Mitochondrial Complex V Deficiency, Nuclear Type 1 57 12 13 70
Mitochondrial Complex V Deficiency, Atpaf2 Type 57 72 6
Mc5dn1 57 12 72
Mc1dn5 57 12 72
Mitochondrial Complex I Deficiency, Nuclear Type 5 57 72
Mitochondrial Complex 1 Deficiency, Nuclear Type 5 29 6
Atpase Deficiency 72 54
Mitochondrial Complex V Deficiency, Nuclear, Type 1 39
Complex 5 Mitochondrial Respiratory Chain Deficiency 72
Complex V Mitochondrial Respiratory Chain Deficiency 72
Mitochondrial Complex V Deficiency, Nuclear Type 1 72
Nuclear Type Mitochondrial Complex I Deficiency 5 12
Mitochondrial Complex V Deficiency Type 1 72
Atp Synthase Deficiency 72
Complex V Deficiency 70
Atpaf2 Deficiency 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
early death may occur


HPO:

31
mitochondrial complex v deficiency, nuclear type 1:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset

mitochondrial complex i deficiency, nuclear type 5:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset progressive


Classifications:



Summaries for Mitochondrial Complex V Deficiency, Nuclear Type 1

UniProtKB/Swiss-Prot : 72 Mitochondrial complex I deficiency, nuclear type 5: A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non- specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN5 transmission pattern is consistent with autosomal recessive inheritance.
Mitochondrial complex V deficiency, nuclear type 1: A mitochondrial disorder with heterogeneous clinical manifestations including dysmorphic features, psychomotor retardation, hypotonia, growth retardation, cardiomyopathy, enlarged liver, hypoplastic kidneys and elevated lactate levels in urine, plasma and cerebrospinal fluid.

MalaCards based summary : Mitochondrial Complex V Deficiency, Nuclear Type 1, also known as mitochondrial complex v deficiency, atpaf2 type, is related to leigh syndrome and mitochondrial complex v deficiency, nuclear type 2, and has symptoms including ataxia An important gene associated with Mitochondrial Complex V Deficiency, Nuclear Type 1 is NDUFS1 (NADH:Ubiquinone Oxidoreductase Core Subunit S1). Affiliated tissues include liver, brain and heart, and related phenotypes are progressive microcephaly and seizure

Disease Ontology : 12 A mitochondrial complex V (ATP synthase) deficiency that has material basis in mutation in the ATPAF2 gene on chromosome 17p11.

OMIM® : 57 A distinct group of inborn defects of complex V (ATP synthase) is represented by the enzyme deficiency due to nuclear genome mutations characterized by a selective inhibition of ATP synthase biogenesis. Biochemically, the patients show a generalized decrease in the content of ATP synthase complex which is less than 30% of normal. Most cases present with neonatal-onset hypotonia, lactic acidosis, hyperammonemia, hypertrophic cardiomyopathy, and 3-methylglutaconic aciduria. Many patients die within a few months or years (summary by Mayr et al., 2010). (604273) (Updated 05-Apr-2021)

Related Diseases for Mitochondrial Complex V Deficiency, Nuclear Type 1

Diseases related to Mitochondrial Complex V Deficiency, Nuclear Type 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 42)
# Related Disease Score Top Affiliating Genes
1 leigh syndrome 28.8 NDUFS1 DNAH8 ATPAF2
2 mitochondrial complex v deficiency, nuclear type 2 11.8
3 mitochondrial complex v deficiency, nuclear type 5 11.5
4 isolated atp synthase deficiency 11.4
5 tmem70 defect 11.3
6 mitochondrial complex v deficiency, nuclear type 3 11.2
7 sengers syndrome 11.2
8 mitochondrial complex iv deficiency, nuclear type 5 11.2
9 mitochondrial complex v deficiency, mitochondrial type 1 11.2
10 brody myopathy 11.1
11 mitochondrial complex v deficiency, nuclear type 6 11.0
12 3-methylglutaconic aciduria 10.2
13 lactic acidosis 10.2
14 hypertrophic cardiomyopathy 10.1
15 mitochondrial disorders 10.1
16 pulmonary hypertension, primary, 1 9.9
17 carbonic anhydrase va deficiency, hyperammonemia due to 9.9
18 liver disease 9.9
19 peripheral nervous system disease 9.9
20 mitochondrial metabolism disease 9.9
21 neuropathy 9.9
22 acute liver failure 9.9
23 darier-white disease 9.7
24 renal tubular acidosis, proximal 9.7
25 retinitis pigmentosa 9.7
26 ataxia and polyneuropathy, adult-onset 9.7
27 neuropathy, ataxia, and retinitis pigmentosa 9.7
28 diabetes mellitus, ketosis-prone 9.7
29 metabolic acidosis 9.7
30 parkinsonism 9.7
31 neuroretinitis 9.7
32 renal tubular acidosis 9.7
33 retinitis 9.7
34 skin disease 9.7
35 dystonia 9.7
36 myeloid leukemia 9.7
37 allergic encephalomyelitis 9.7
38 distal renal tubular acidosis 9.7
39 spinal cord injury 9.7
40 rare genetic skin disease 9.7
41 rare movement disorder 9.7
42 leber hereditary optic neuropathy, modifier of 9.4 NDUFS1 ATPAF2

Graphical network of the top 20 diseases related to Mitochondrial Complex V Deficiency, Nuclear Type 1:



Diseases related to Mitochondrial Complex V   Deficiency, Nuclear Type 1

Symptoms & Phenotypes for Mitochondrial Complex V Deficiency, Nuclear Type 1

Human phenotypes related to Mitochondrial Complex V Deficiency, Nuclear Type 1:

31 (show all 41)
# Description HPO Frequency HPO Source Accession
1 progressive microcephaly 31 very rare (1%) HP:0000253
2 seizure 31 very rare (1%) HP:0001250
3 hyperreflexia 31 HP:0001347
4 failure to thrive 31 HP:0001508
5 ptosis 31 HP:0000508
6 nystagmus 31 HP:0000639
7 ataxia 31 HP:0001251
8 dysphagia 31 HP:0002015
9 respiratory insufficiency 31 HP:0002093
10 developmental regression 31 HP:0002376
11 global developmental delay 31 HP:0001263
12 hepatomegaly 31 HP:0002240
13 microcephaly 31 HP:0000252
14 optic atrophy 31 HP:0000648
15 short stature 31 HP:0004322
16 vomiting 31 HP:0002013
17 strabismus 31 HP:0000486
18 cryptorchidism 31 HP:0000028
19 retrognathia 31 HP:0000278
20 low-set ears 31 HP:0000369
21 irritability 31 HP:0000737
22 hypertrophic cardiomyopathy 31 HP:0001639
23 ophthalmoplegia 31 HP:0000602
24 increased serum lactate 31 HP:0002151
25 apnea 31 HP:0002104
26 prominent nasal bridge 31 HP:0000426
27 hypospadias 31 HP:0000047
28 dystonia 31 HP:0001332
29 hyperammonemia 31 HP:0001987
30 lethargy 31 HP:0001254
31 babinski sign 31 HP:0003487
32 leukoencephalopathy 31 HP:0002352
33 leukodystrophy 31 HP:0002415
34 lactic acidosis 31 HP:0003128
35 cerebellar atrophy 31 HP:0001272
36 psychomotor retardation 31 HP:0025356
37 generalized hypotonia 31 HP:0001290
38 brain atrophy 31 HP:0012444
39 poor speech 31 HP:0002465
40 3-methylglutaconic aciduria 31 HP:0003535
41 hypotonia 31 HP:0001252

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Growth Other:
failure to thrive

Abdomen Liver:
hepatomegaly

Growth Height:
short stature

Head And Neck Face:
retrognathia

Cardiovascular Heart:
hypertrophic cardiomyopathy

Head And Neck Nose:
prominent nasal bridge

Muscle Soft Tissue:
hypotonia
atp synthase deficiency

Neurologic Central Nervous System:
ataxia
psychomotor retardation

Head And Neck Head:
microcephaly

Genitourinary External Genitalia Male:
cryptorchidism
hypospadias

Head And Neck Ears:
low-set ears

Laboratory Abnormalities:
increased serum lactate
hyperammonemia
intermittent 3-methylglutaconic aciduria
decreased atp synthase in muscle, heart, liver, and brain

Metabolic Features:
lactic acidosis

Clinical features from OMIM®:

604273 618226 (Updated 05-Apr-2021)

UMLS symptoms related to Mitochondrial Complex V Deficiency, Nuclear Type 1:


ataxia

GenomeRNAi Phenotypes related to Mitochondrial Complex V Deficiency, Nuclear Type 1 according to GeneCards Suite gene sharing:

26 (show all 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.4 NDUFS1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-121 9.4 ATPAF2
3 Increased shRNA abundance (Z-score > 2) GR00366-A-125 9.4 ATPAF2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-13 9.4 ATPAF2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-131 9.4 ATPAF2
6 Increased shRNA abundance (Z-score > 2) GR00366-A-133 9.4 NDUFS1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-145 9.4 NDUFS1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-164 9.4 NDUFS1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-204 9.4 ATPAF2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-4 9.4 NDUFS1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.4 ATPAF2
12 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.4 ATPAF2

Drugs & Therapeutics for Mitochondrial Complex V Deficiency, Nuclear Type 1

Search Clinical Trials , NIH Clinical Center for Mitochondrial Complex V Deficiency, Nuclear Type 1

Genetic Tests for Mitochondrial Complex V Deficiency, Nuclear Type 1

Genetic tests related to Mitochondrial Complex V Deficiency, Nuclear Type 1:

# Genetic test Affiliating Genes
1 Mitochondrial Complex 1 Deficiency, Nuclear Type 5 29 NDUFS1

Anatomical Context for Mitochondrial Complex V Deficiency, Nuclear Type 1

MalaCards organs/tissues related to Mitochondrial Complex V Deficiency, Nuclear Type 1:

40
Liver, Brain, Heart, Spinal Cord, Skeletal Muscle, Skin

Publications for Mitochondrial Complex V Deficiency, Nuclear Type 1

Articles related to Mitochondrial Complex V Deficiency, Nuclear Type 1:

(show top 50) (show all 51)
# Title Authors PMID Year
1
Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12. 57 6
14757859 2004
2
Cellular rescue-assay aids verification of causative DNA-variants in mitochondrial complex I deficiency. 6
21458341 2011
3
Progressive cavitating leukoencephalopathy associated with respiratory chain complex I deficiency and a novel mutation in NDUFS1. 6
21203893 2011
4
The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families. 6
20819849 2010
5
Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 epsilon subunit. 57
20566710 2010
6
Novel mutations in the NDUFS1 gene cause low residual activities in human complex I deficiencies. 6
20382551 2010
7
Rapid screening for nuclear genes mutations in isolated respiratory chain complex I defects. 6
19167255 2009
8
Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy. 57
19015156 2009
9
Deficiency of mitochondrial ATP synthase of nuclear genetic origin. 57
17052906 2006
10
Leigh syndrome associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFS1 gene. 6
15824269 2005
11
Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency. 6
11349233 2001
12
A novel deficiency of mitochondrial ATPase of nuclear origin. 57
10484764 1999
13
Synthesis of cytochrome c oxidase subunit 1 is translationally downregulated in the absence of functional F1F0-ATP synthase. 61 54
19735676 2009
14
Biochemical consequences in yeast of the human mitochondrial DNA 8993T>C mutation in the ATPase6 gene found in NARP/MILS patients. 61 54
19269308 2009
15
The mtDNA NARP mutation activates the actin-Nrf2 signaling of antioxidant defenses. 61 54
18261463 2008
16
Reduced respiratory control with ADP and changed pattern of respiratory chain enzymes as a result of selective deficiency of the mitochondrial ATP synthase. 61 54
15155867 2004
17
Synthesis and preliminary biological evaluations of ionic and nonionic amphiphilic alpha-phenyl-N-tert-butylnitrone derivatives. 54 61
14613325 2003
18
Superoxide-induced massive apoptosis in cultured skin fibroblasts harboring the neurogenic ataxia retinitis pigmentosa (NARP) mutation in the ATPase-6 gene of the mitochondrial DNA. 61 54
11371515 2001
19
Bioenergetic consequences of FoF1-ATP synthase/ATPase deficiency in two life cycle stages of Trypanosoma brucei. 61
33539923 2021
20
Torsin ATPase deficiency leads to defects in nuclear pore biogenesis and sequestration of MLF2. 61
32342107 2020
21
Molecular basis for the binding and modulation of V-ATPase by a bacterial effector protein. 61
28570695 2017
22
Loss of Na(+)/K(+)-ATPase in Drosophila photoreceptors leads to blindness and age-dependent neurodegeneration. 61
25205229 2014
23
α3Na+/K+-ATPase deficiency causes brain ventricle dilation and abrupt embryonic motility in zebrafish. 61
23400780 2013
24
The α2Na+/K+-ATPase is critical for skeletal and heart muscle function in zebrafish. 61
23097043 2012
25
An SNX10 mutation causes malignant osteopetrosis of infancy. 61
22499339 2012
26
A plant proton-pumping inorganic pyrophosphatase functionally complements the vacuolar ATPase transport activity and confers bafilomycin resistance in yeast. 61
21612578 2011
27
P4 ATPases - lipid flippases and their role in disease. 61
19254779 2009
28
The leader peptide of yeast Atp6p is required for efficient interaction with the Atp9p ring of the mitochondrial ATPase. 61
17940284 2007
29
Two components in pathogenic mechanism of mitochondrial ATPase deficiency: energy deprivation and ROS production. 61
16581217 2006
30
Plasma membrane calcium ATPase deficiency causes neuronal pathology in the spinal cord: a potential mechanism for neurodegeneration in multiple sclerosis and spinal cord injury. 61
15576480 2005
31
Darier's disease: from dyskeratosis to endoplasmic reticulum calcium ATPase deficiency. 61
15336971 2004
32
Na(+), K(+)-ATPase: the new face of an old player in pathogenesis and apoptotic/hybrid cell death. 61
14555240 2003
33
Distal renal tubular acidosis with severe hypokalaemia, probably caused by colonic H(+)-K(+)-ATPase deficiency. 61
11369570 2001
34
Muscle function in a patient with Brody's disease. 61
10366223 1999
35
The neurogenic weakness, ataxia and retinitis pigmentosa (NARP) syndrome mtDNA mutation (T8993G) triggers muscle ATPase deficiency and hypocitrullinaemia. 61
9950309 1999
36
Ca2+ homeostasis in Brody's disease. A study in skeletal muscle and cultured muscle cells and the effects of dantrolene an verapamil. 61
8040329 1994
37
Ischaemic forearm testing in a patient with Ca(2+)-ATPase deficiency. 61
1405485 1992
38
Study of the separate and combined effects of the non-planar 2,5,2',5'- and the planar 3,4,3',4'-tetrachlorobiphenyl in liver and lymphocytes in vivo. 61
1827616 1991
39
Ca2+-ATPase deficiency in a patient with an exertional muscle pain syndrome. 61
2976810 1988
40
Role of sorbitol accumulation and myo-inositol depletion in paranodal swelling of large myelinated nerve fibers in the insulin-deficient spontaneously diabetic bio-breeding rat. Reversal by insulin replacement, an aldose reductase inhibitor, and myo-inositol. 61
3033025 1987
41
Inherited convulsive disorders in mice. 61
3518345 1986
42
In vitro transport of F1-ATPase beta-subunit into mitochondria of Zajdela hepatoma and rat liver. 61
2868422 1985
43
Erythrocyte sodium-potassium-stimulated adenosine triphosphatase activity is not related to obesity. 61
6302395 1983
44
Quantitative aspects of chemical carcinogenesis and tumor promotion in liver. 61
6223810 1983
45
Strain and species differences in the induction of ATPase-deficient hepatic foci by diethylnitrosamine. 61
6212115 1982
46
Ecto-adenosine triphosphatase deficiency in cultured human T and null leukemic lymphocytes. A biochemical basis for thymidine sensitivity. 61
6114965 1981
47
Age-, sex-, and strain-dependent differences in the induction of enzyme-altered islands in rat liver by diethylnitrosamine. 61
6114960 1981
48
Ecto-ATPase deficiency in glia of seizure-prone mice. 61
146163 1978
49
Bacillus megaterium mutant deficient in membrane-bound adenosine triphosphatase activity. 61
141449 1977
50
Tubular Na, K-ATPase deficiency, the cause of the congenital renal salt-losing syndrome. 61
129330 1976

Variations for Mitochondrial Complex V Deficiency, Nuclear Type 1

ClinVar genetic disease variations for Mitochondrial Complex V Deficiency, Nuclear Type 1:

6 (show top 50) (show all 64)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ATPAF2 NM_145691.4(ATPAF2):c.280T>A (p.Trp94Arg) SNV Pathogenic 1995 rs104894554 GRCh37: 17:17931590-17931590
GRCh38: 17:18028276-18028276
2 NDUFS1 NM_005006.7(NDUFS1):c.666_668del (p.Ile223del) Deletion Pathogenic 14230 rs397515383 GRCh37: 2:207011696-207011698
GRCh38: 2:206146972-206146974
3 NDUFS1 NM_005006.7(NDUFS1):c.691C>G (p.Leu231Val) SNV Pathogenic 14233 rs199422226 GRCh37: 2:207011673-207011673
GRCh38: 2:206146949-206146949
4 NDUFS1 NM_005006.7(NDUFS1):c.1783A>G (p.Thr595Ala) SNV Pathogenic 31914 rs387907199 GRCh37: 2:206992622-206992622
GRCh38: 2:206127898-206127898
5 NDUFS1 NM_005006.7(NDUFS1):c.1855G>A (p.Asp619Asn) SNV Pathogenic 50922 rs397515447 GRCh37: 2:206992550-206992550
GRCh38: 2:206127826-206127826
6 NDUFS1 NM_005006.7(NDUFS1):c.1669C>T (p.Arg557Ter) SNV Pathogenic 50923 rs372691318 GRCh37: 2:206994851-206994851
GRCh38: 2:206130127-206130127
7 NDUFS1 NM_005006.7(NDUFS1):c.755A>G (p.Asp252Gly) SNV Pathogenic 14231 rs199422224 GRCh37: 2:207009733-207009733
GRCh38: 2:206145009-206145009
8 NDUFS1 NM_005006.7(NDUFS1):c.1222C>T (p.Arg408Cys) SNV Pathogenic 50924 rs149271416 GRCh37: 2:207006705-207006705
GRCh38: 2:206141981-206141981
9 NDUFS1 NM_005006.7(NDUFS1):c.683T>C (p.Val228Ala) SNV Pathogenic 429933 rs370411488 GRCh37: 2:207011681-207011681
GRCh38: 2:206146957-206146957
10 NDUFS1 NM_005006.7(NDUFS1):c.1285G>A (p.Val429Met) SNV Likely pathogenic 872972 GRCh37:
GRCh38:
11 NDUFS1 NM_005006.7(NDUFS1):c.2121G>A (p.Met707Ile) SNV Likely pathogenic 800917 rs1321888585 GRCh37: 2:206988972-206988972
GRCh38: 2:206124248-206124248
12 NDUFS1 NM_005006.7(NDUFS1):c.1223G>A (p.Arg408His) SNV Likely pathogenic 432383 rs151279101 GRCh37: 2:207006704-207006704
GRCh38: 2:206141980-206141980
13 ATPAF2 NM_145691.4(ATPAF2):c.98del (p.Ile33fs) Deletion Likely pathogenic 930235 GRCh37: 17:17942230-17942230
GRCh38: 17:18038916-18038916
14 ATPAF2 NM_145691.4(ATPAF2):c.*378A>T SNV Uncertain significance 322089 rs530700735 GRCh37: 17:17921485-17921485
GRCh38: 17:18018171-18018171
15 ATPAF2 NM_145691.4(ATPAF2):c.*194C>A SNV Uncertain significance 322091 rs143710995 GRCh37: 17:17921669-17921669
GRCh38: 17:18018355-18018355
16 NDUFS1 NM_005006.7(NDUFS1):c.1554-1G>A SNV Uncertain significance 631541 rs1056433452 GRCh37: 2:206994967-206994967
GRCh38: 2:206130243-206130243
17 NDUFS1 NM_005006.7(NDUFS1):c.737+1G>A SNV Uncertain significance 632336 rs935776676 GRCh37: 2:207011626-207011626
GRCh38: 2:206146902-206146902
18 NDUFS1 NM_005006.7(NDUFS1):c.1393G>A (p.Val465Ile) SNV Uncertain significance 691613 rs777102927 GRCh37: 2:206997829-206997829
GRCh38: 2:206133105-206133105
19 ATPAF2 NM_145691.4(ATPAF2):c.*337T>C SNV Uncertain significance 322090 rs886052664 GRCh37: 17:17921526-17921526
GRCh38: 17:18018212-18018212
20 ATPAF2 NM_145691.4(ATPAF2):c.634G>T (p.Ala212Ser) SNV Uncertain significance 322095 rs141020107 GRCh37: 17:17924535-17924535
GRCh38: 17:18021221-18021221
21 ATPAF2 NM_145691.4(ATPAF2):c.*132C>T SNV Uncertain significance 322093 rs765325833 GRCh37: 17:17921731-17921731
GRCh38: 17:18018417-18018417
22 ATPAF2 NM_145691.4(ATPAF2):c.250G>A (p.Glu84Lys) SNV Uncertain significance 322096 rs373144265 GRCh37: 17:17931620-17931620
GRCh38: 17:18028306-18028306
23 ATPAF2 NM_145691.4(ATPAF2):c.-1G>T SNV Uncertain significance 322097 rs886052665 GRCh37: 17:17942328-17942328
GRCh38: 17:18039014-18039014
24 ATPAF2 NM_145691.4(ATPAF2):c.*108C>T SNV Uncertain significance 888801 GRCh37: 17:17921755-17921755
GRCh38: 17:18018441-18018441
25 ATPAF2 NM_145691.4(ATPAF2):c.*54C>T SNV Uncertain significance 888802 GRCh37: 17:17921809-17921809
GRCh38: 17:18018495-18018495
26 ATPAF2 NM_145691.4(ATPAF2):c.*26G>C SNV Uncertain significance 888803 GRCh37: 17:17921837-17921837
GRCh38: 17:18018523-18018523
27 ATPAF2 NM_145691.4(ATPAF2):c.565C>G (p.Arg189Gly) SNV Uncertain significance 890505 GRCh37: 17:17925110-17925110
GRCh38: 17:18021796-18021796
28 ATPAF2 NM_145691.4(ATPAF2):c.422+11T>C SNV Uncertain significance 890506 GRCh37: 17:17929622-17929622
GRCh38: 17:18026308-18026308
29 ATPAF2 NM_145691.4(ATPAF2):c.113G>T (p.Arg38Leu) SNV Uncertain significance 890507 GRCh37: 17:17942215-17942215
GRCh38: 17:18038901-18038901
30 ATPAF2 NM_145691.4(ATPAF2):c.*526C>T SNV Uncertain significance 891000 GRCh37: 17:17921337-17921337
GRCh38: 17:18018023-18018023
31 ATPAF2 NM_145691.4(ATPAF2):c.*485G>A SNV Uncertain significance 891001 GRCh37: 17:17921378-17921378
GRCh38: 17:18018064-18018064
32 ATPAF2 NM_145691.4(ATPAF2):c.-85C>T SNV Uncertain significance 891070 GRCh37: 17:17942412-17942412
GRCh38: 17:18039098-18039098
33 ATPAF2 NM_145691.4(ATPAF2):c.-90C>A SNV Uncertain significance 891071 GRCh37: 17:17942417-17942417
GRCh38: 17:18039103-18039103
34 ATPAF2 NM_145691.4(ATPAF2):c.-107G>T SNV Uncertain significance 891072 GRCh37: 17:17942434-17942434
GRCh38: 17:18039120-18039120
35 ATPAF2 NM_145691.4(ATPAF2):c.*250C>T SNV Uncertain significance 892222 GRCh37: 17:17921613-17921613
GRCh38: 17:18018299-18018299
36 ATPAF2 NM_145691.4(ATPAF2):c.*138G>A SNV Uncertain significance 892223 GRCh37: 17:17921725-17921725
GRCh38: 17:18018411-18018411
37 ATPAF2 NM_145691.4(ATPAF2):c.*137C>T SNV Uncertain significance 892224 GRCh37: 17:17921726-17921726
GRCh38: 17:18018412-18018412
38 NDUFS1 NM_005006.7(NDUFS1):c.721C>T (p.Arg241Trp) SNV Uncertain significance 14232 rs199422225 GRCh37: 2:207011643-207011643
GRCh38: 2:206146919-206146919
39 ATPAF2 NM_145691.4(ATPAF2):c.40C>G (p.Arg14Gly) SNV Uncertain significance 214135 rs143241583 GRCh37: 17:17942288-17942288
GRCh38: 17:18038974-18038974
40 ATPAF2 NM_145691.4(ATPAF2):c.346T>C (p.Leu116=) SNV Uncertain significance 136466 rs144484457 GRCh37: 17:17929709-17929709
GRCh38: 17:18026395-18026395
41 ATPAF2 NM_145691.4(ATPAF2):c.133+1G>T SNV Uncertain significance 422342 rs147941728 GRCh37: 17:17942194-17942194
GRCh38: 17:18038880-18038880
42 NDUFS1 NM_005006.7(NDUFS1):c.-5+236T>C SNV Uncertain significance 800992 rs184505364 GRCh37: 2:207023829-207023829
GRCh38: 2:206159105-206159105
43 NDUFS1 NM_005006.7(NDUFS1):c.551G>C (p.Arg184Thr) SNV Uncertain significance 916684 GRCh37: 2:207012255-207012255
GRCh38: 2:206147531-206147531
44 NDUFS1 NM_005006.7(NDUFS1):c.65G>A (p.Arg22Gln) SNV Uncertain significance 930983 GRCh37: 2:207017231-207017231
GRCh38: 2:206152507-206152507
45 ATPAF2 NM_145691.4(ATPAF2):c.389C>A (p.Ala130Glu) SNV Uncertain significance 214139 rs759676953 GRCh37: 17:17929666-17929666
GRCh38: 17:18026352-18026352
46 ATPAF2 NM_145691.4(ATPAF2):c.412G>A (p.Asp138Asn) SNV Uncertain significance 635075 rs1568572298 GRCh37: 17:17929643-17929643
GRCh38: 17:18026329-18026329
47 ATPAF2 NM_145691.4(ATPAF2):c.480A>C (p.Pro160=) SNV Uncertain significance 1027768 GRCh37: 17:17927961-17927961
GRCh38: 17:18024647-18024647
48 NDUFS1 NM_005006.7(NDUFS1):c.1321A>G (p.Thr441Ala) SNV Uncertain significance 1030868 GRCh37: 2:207003280-207003280
GRCh38: 2:206138556-206138556
49 ATPAF2 NM_145691.4(ATPAF2):c.713G>A (p.Arg238His) SNV Uncertain significance 1032471 GRCh37: 17:17924456-17924456
GRCh38: 17:18021142-18021142
50 ATPAF2 NM_145691.4(ATPAF2):c.802G>A (p.Ala268Thr) SNV Uncertain significance 214138 rs368477064 GRCh37: 17:17921931-17921931
GRCh38: 17:18018617-18018617

UniProtKB/Swiss-Prot genetic disease variations for Mitochondrial Complex V Deficiency, Nuclear Type 1:

72
# Symbol AA change Variation ID SNP ID
1 ATPAF2 p.Trp94Arg VAR_023386 rs104894554
2 NDUFS1 p.Arg241Trp VAR_019532 rs199422225
3 NDUFS1 p.Asp252Gly VAR_019533 rs199422224

Expression for Mitochondrial Complex V Deficiency, Nuclear Type 1

Search GEO for disease gene expression data for Mitochondrial Complex V Deficiency, Nuclear Type 1.

Pathways for Mitochondrial Complex V Deficiency, Nuclear Type 1

GO Terms for Mitochondrial Complex V Deficiency, Nuclear Type 1

Sources for Mitochondrial Complex V Deficiency, Nuclear Type 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
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57 OMIM® (Updated 05-Apr-2021)
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71 UMLS via Orphanet
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