SCA28
MCID: SPN308
MIFTS: 46

Spinocerebellar Ataxia 28 (SCA28)

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Spinocerebellar Ataxia 28

MalaCards integrated aliases for Spinocerebellar Ataxia 28:

Name: Spinocerebellar Ataxia 28 57 20 72 13 70
Spinocerebellar Ataxia Type 28 12 25 20 58 29 6 15
Sca28 57 25 20 58 72
Ataxia, Spinocerebellar, Type 28 39

Characteristics:

Orphanet epidemiological data:

58
spinocerebellar ataxia type 28
Inheritance: Autosomal dominant; Age of onset: Childhood;

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
slow progression
mean age at onset 30.7 years (range 6 to 60 years)

Inheritance:
autosomal dominant


HPO:

31
spinocerebellar ataxia 28:
Inheritance autosomal dominant inheritance
Onset and clinical course slow progression


GeneReviews:

25
Penetrance From the studies of sca28 published to date, disease penetrance appears to be complete.

Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0050977
OMIM® 57 610246
OMIM Phenotypic Series 57 PS164400
MeSH 44 D020754
MESH via Orphanet 45 C537205
ICD10 via Orphanet 33 G11.1
UMLS via Orphanet 71 C1853249
Orphanet 58 ORPHA101109
MedGen 41 C1853249
UMLS 70 C1853249

Summaries for Spinocerebellar Ataxia 28

GARD : 20 Spinocerebellar ataxia 28 (SCA28)is a slowly progressive movement disorder that typically begins in early adulthood (but can affect children and older adults as well). Early signs and symptoms include problems with coordination and balance when walking (gait ataxia), speech and swallowing difficulties ( dysarthria ), over-reactive reflex reactions in knees and ankles (hyperreflexia), weakness in the muscles that control eye movement (ophthalmoparesis), uncontrolled movement of the eye ( nystagmus ) and drooping eyelid ( ptosis ). The symptoms worsen very slowly over time. SCA28 is caused by changes in the AFG3L2 gene and is inherited in an autosomal dominant fashion. There is currently not a cure for SCA28, but treatments are available to help manage symptoms.

MalaCards based summary : Spinocerebellar Ataxia 28, also known as spinocerebellar ataxia type 28, is related to optic atrophy 1 and hereditary ataxia, and has symptoms including gait ataxia and muscle spasticity. An important gene associated with Spinocerebellar Ataxia 28 is AFG3L2 (AFG3 Like Matrix AAA Peptidase Subunit 2), and among its related pathways/superpathways are Spinocerebellar ataxia and Mitochondrial protein import. Affiliated tissues include eye, cerebellum and spinal cord, and related phenotypes are dysarthria and gait ataxia

Disease Ontology : 12 An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria, hyperreflexia, ophthalmoparesis, nystagmus and ptosis, and has material basis in mutation in the AFG3L2 gene.

UniProtKB/Swiss-Prot : 72 Spinocerebellar ataxia 28: Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA28 is an autosomal dominant cerebellar ataxia (ADCA) with a slow progressive course and no evidence of sensory involvement or cognitive impairment.

More information from OMIM: 610246 PS164400
GeneReviews: NBK54582

Related Diseases for Spinocerebellar Ataxia 28

Diseases in the Spinocerebellar Ataxia 2 family:

Spinocerebellar Ataxia 31 Spinocerebellar Ataxia 29
Spinocerebellar Ataxia 34 Spinocerebellar Ataxia 1
Spinocerebellar Ataxia 7 Spinocerebellar Ataxia 6
Spinocerebellar Ataxia, Autosomal Recessive 2 Spinocerebellar Ataxia, Autosomal Recessive 3
Spinocerebellar Ataxia 4 Spinocerebellar Ataxia 5
Spinocerebellar Ataxia 10 Spinocerebellar Ataxia 12
Spinocerebellar Ataxia 11 Spinocerebellar Ataxia 13
Spinocerebellar Ataxia 14 Spinocerebellar Ataxia 15
Spinocerebellar Ataxia 17 Spinocerebellar Ataxia, Autosomal Recessive 4
Spinocerebellar Ataxia 19 Spinocerebellar Ataxia 21
Spinocerebellar Ataxia 18 Spinocerebellar Ataxia, Autosomal Recessive 6
Spinocerebellar Ataxia 20 Spinocerebellar Ataxia 25
Spinocerebellar Ataxia 8 Spinocerebellar Ataxia, Autosomal Recessive 7
Spinocerebellar Ataxia 26 Spinocerebellar Ataxia 27
Spinocerebellar Ataxia 23 Spinocerebellar Ataxia 28
Spinocerebellar Ataxia, Autosomal Recessive 8 Spinocerebellar Ataxia 9
Spinocerebellar Ataxia 30 Spinocerebellar Ataxia, Autosomal Recessive 10
Spinocerebellar Ataxia 35 Spinocerebellar Ataxia 32
Spinocerebellar Ataxia 36 Spinocerebellar Ataxia, Autosomal Recessive 11
Spinocerebellar Ataxia, Autosomal Recessive 12 Spinocerebellar Ataxia, Autosomal Recessive 13
Spinocerebellar Ataxia, Autosomal Recessive 14 Spinocerebellar Ataxia, Autosomal Recessive 15
Spinocerebellar Ataxia, Autosomal Recessive 16 Spinocerebellar Ataxia 37
Spinocerebellar Ataxia 38 Spinocerebellar Ataxia 40
Spinocerebellar Ataxia, Autosomal Recessive 17 Spinocerebellar Ataxia, Autosomal Recessive 18
Spinocerebellar Ataxia, Autosomal Recessive 20 Spinocerebellar Ataxia 41
Spinocerebellar Ataxia, Autosomal Recessive 21 Spinocerebellar Ataxia 42
Spinocerebellar Ataxia, Autosomal Recessive 22 Spinocerebellar Ataxia, Autosomal Recessive 23
Spinocerebellar Ataxia 43 Spinocerebellar Ataxia, Autosomal Recessive 24
Spinocerebellar Ataxia, Autosomal Recessive 25 Spinocerebellar Ataxia, Autosomal Recessive 26
Spinocerebellar Ataxia 44 Spinocerebellar Ataxia 45
Spinocerebellar Ataxia 46 Spinocerebellar Ataxia 47
Spinocerebellar Ataxia 48 Spinocerebellar Ataxia, Autosomal Recessive 27
Spinocerebellar Ataxia, Autosomal Recessive 28 Spinocerebellar Ataxia Type 19/22
Grid2-Related Spinocerebellar Ataxia Spinocerebellar Ataxia Autosomal Recessive 5

Diseases related to Spinocerebellar Ataxia 28 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 38)
# Related Disease Score Top Affiliating Genes
1 optic atrophy 1 29.8 YME1L1 SPG7 PARL OMA1
2 hereditary ataxia 29.8 SPG7 KCNC3 AFG3L2
3 autosomal dominant cerebellar ataxia 29.8 THG1L SPG7 KCNC3 CRYAA AFG3L2
4 dentatorubral-pallidoluysian atrophy 29.7 SPG7 KCNC3 AFG3L2
5 spastic paraplegia 7, autosomal recessive 29.3 YME1L1 SPG7 PARL KCNC3 AFG3L2
6 spastic ataxia 5 28.5 YME1L1 TIMM9 TIMM17A TIMM10 SPG7 PRELID1
7 spinocerebellar ataxia, autosomal recessive 28 11.2
8 optic atrophy 8 10.3 YME1L1 OMA1
9 optic atrophy 9 10.3 SPG7 AFG3L2
10 optic atrophy 4 10.3 YME1L1 OMA1
11 spinocerebellar ataxia, autosomal recessive 14 10.3 SPG7 AFG3L2
12 optic atrophy 3, autosomal dominant 10.2 SPG7 CRYAA
13 kearns-sayre syndrome 10.2
14 cerebellar ataxia type 41 10.1 KCNC3 AFG3L2
15 spastic paraplegia 13, autosomal dominant 10.1 SPG7 CRYAA
16 familial hypocalciuric hypercalcemia 10.1 TIMM10 SPG7 MAIP1
17 optic atrophy 5 10.1 YME1L1 SPG7 OMA1 AFG3L2
18 aspiration pneumonia 10.1
19 spastic ataxia 10.1
20 chronic progressive external ophthalmoplegia 10.1
21 hereditary spastic paraplegia 10.1
22 visual cortex disease 10.1 TIMM9 TIMM10
23 visual pathway disease 10.1 TIMM9 TIMM10
24 ptosis 10.0
25 ataxia and polyneuropathy, adult-onset 10.0
26 early myoclonic encephalopathy 10.0 SPG7 KCNC3 AFG3L2
27 cerebellar disease 10.0 SPG7 KCNC3 AFG3L2
28 mohr-tranebjaerg syndrome 10.0 TIMM9 TIMM17A TIMM10
29 spinocerebellar ataxia 15 9.9
30 spastic ataxia 5, autosomal recessive 9.9
31 paraplegia 9.9
32 pathologic nystagmus 9.9
33 3-methylglutaconic aciduria, type iii 9.8 SPG7 PARL OMA1 AFG3L2
34 codas syndrome 9.8 CLPX CLPP
35 cranial nerve disease 9.7 YME1L1 SPG7 PARL OMA1 CRYAA
36 optic nerve disease 9.7 YME1L1 SPG7 PARL OMA1 CRYAA AFG3L2
37 leber hereditary optic neuropathy, modifier of 9.6 SPG7 PARL CRYAA
38 perrault syndrome 9.3 YME1L1 SPG7 PARL CLPX CLPP AFG3L2

Graphical network of the top 20 diseases related to Spinocerebellar Ataxia 28:



Diseases related to Spinocerebellar Ataxia 28

Symptoms & Phenotypes for Spinocerebellar Ataxia 28

Human phenotypes related to Spinocerebellar Ataxia 28:

58 31 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysarthria 58 31 hallmark (90%) Very frequent (99-80%) HP:0001260
2 gait ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002066
3 limb ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002070
4 lower limb hyperreflexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002395
5 ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000508
6 nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000639
7 ophthalmoparesis 58 31 frequent (33%) Frequent (79-30%) HP:0000597
8 babinski sign 58 31 frequent (33%) Frequent (79-30%) HP:0003487
9 slow saccadic eye movements 58 31 frequent (33%) Frequent (79-30%) HP:0000514
10 dystonia 58 31 occasional (7.5%) Very rare (<4-1%) HP:0001332
11 parkinsonism 58 31 occasional (7.5%) Occasional (29-5%) HP:0001300
12 kinetic tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0030186
13 spasticity 58 31 very rare (1%) Very rare (<4-1%) HP:0001257
14 depressivity 58 31 very rare (1%) Very rare (<4-1%) HP:0000716
15 memory impairment 58 31 very rare (1%) Very rare (<4-1%) HP:0002354
16 head tremor 58 31 very rare (1%) Very rare (<4-1%) HP:0002346
17 rigidity 58 31 very rare (1%) Very rare (<4-1%) HP:0002063
18 limb dystonia 58 31 very rare (1%) Very rare (<4-1%) HP:0002451
19 behavioral abnormality 58 Very rare (<4-1%)
20 hypertonia 31 HP:0001276
21 cognitive impairment 58 Very rare (<4-1%)
22 cerebellar atrophy 31 HP:0001272
23 gaze-evoked nystagmus 31 HP:0000640
24 dysmetric saccades 31 HP:0000641

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
spasticity
dysarthria
gait ataxia
cerebellar atrophy
limb ataxia
more
Head And Neck Eyes:
gaze-evoked nystagmus
dysmetric saccades
eye movement abnormalities
smooth pursuit abnormalities
slow saccades (with longer disease duration)
more

Clinical features from OMIM®:

610246 (Updated 05-Apr-2021)

UMLS symptoms related to Spinocerebellar Ataxia 28:


gait ataxia; muscle spasticity

Drugs & Therapeutics for Spinocerebellar Ataxia 28

Search Clinical Trials , NIH Clinical Center for Spinocerebellar Ataxia 28

Genetic Tests for Spinocerebellar Ataxia 28

Genetic tests related to Spinocerebellar Ataxia 28:

# Genetic test Affiliating Genes
1 Spinocerebellar Ataxia Type 28 29 AFG3L2

Anatomical Context for Spinocerebellar Ataxia 28

MalaCards organs/tissues related to Spinocerebellar Ataxia 28:

40
Eye, Cerebellum, Spinal Cord

Publications for Spinocerebellar Ataxia 28

Articles related to Spinocerebellar Ataxia 28:

(show all 49)
# Title Authors PMID Year
1
Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias. 61 25 57 6
20725928 2010
2
Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28. 25 6 57
20208537 2010
3
SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2. 57 6
16251216 2006
4
SCA28: Novel Mutation in the AFG3L2 Proteolytic Domain Causes a Mild Cerebellar Syndrome with Selective Type-1 Muscle Fiber Atrophy. 61 25
26868664 2017
5
Spinocerebellar ataxia 28: a novel AFG3L2 mutation in a German family with young onset, slow progression and saccadic slowing. 25 61
26677414 2015
6
Partial deletion of AFG3L2 causing spinocerebellar ataxia type 28. 25 61
24814845 2014
7
A novel frameshift mutation in the AFG3L2 gene in a patient with spinocerebellar ataxia. 25 61
24272953 2014
8
A novel missense mutation in AFG3L2 associated with late onset and slow progression of spinocerebellar ataxia type 28. 25 61
24293060 2014
9
Spinocerebellar ataxia type 28 (SCA28) is an uncommon cause of dominant ataxia among Chinese kindreds. 61 25
22563911 2012
10
Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases. 25 61
22022284 2011
11
Spinocerebellar ataxia type 28: a novel autosomal dominant cerebellar ataxia characterized by slow progression and ophthalmoparesis. 25 61
18769991 2008
12
Neurocognitive Characterization of an SCA28 Family Caused by a Novel AFG3L2 Gene Mutation. 25
28660440 2017
13
A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies. 25
28444220 2017
14
Causes of progressive cerebellar ataxia: prospective evaluation of 1500 patients. 25
27965395 2017
15
Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia. 25
28362824 2017
16
Analysis of protein-coding genetic variation in 60,706 humans. 25
27535533 2016
17
Exome sequencing in undiagnosed inherited and sporadic ataxias. 25
25497598 2015
18
A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy. 25
25401298 2015
19
Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia. 25
25133958 2014
20
Exome sequencing as a diagnostic tool for pediatric-onset ataxia. 25
24108619 2014
21
Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model. 25
24030952 2013
22
Early onset and slow progression of SCA28, a rare dominant ataxia in a large four-generation family with a novel AFG3L2 mutation. 25
20354562 2010
23
Autocatalytic processing of m-AAA protease subunits in mitochondria. 25
19656850 2009
24
The m-AAA protease defective in hereditary spastic paraplegia controls ribosome assembly in mitochondria. 25
16239145 2005
25
Cellular functions, mechanism of action, and regulation of FtsH protease. 25
15910274 2005
26
Membrane protein degradation by AAA proteases in mitochondria: extraction of substrates from either membrane surface. 25
10882099 2000
27
Identification and characterization of AFG3L2, a novel paraplegin-related gene. 25
10395799 1999
28
The formation of respiratory chain complexes in mitochondria is under the proteolytic control of the m-AAA protease. 25
9707443 1998
29
Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. 25
9635427 1998
30
The YTA10-12 complex, an AAA protease with chaperone-like activity in the inner membrane of mitochondria. 25
8681382 1996
31
Evidence for Non-Mendelian Inheritance in Spastic Paraplegia 7. 61
33598982 2021
32
ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy. 61
32219868 2020
33
A novel AFG3L2 mutation close to AAA domain leads to aberrant OMA1 and OPA1 processing in a family with optic atrophy. 61
32600459 2020
34
Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy. 61
32548275 2020
35
Expanding the clinical and genetic heterogeneity of SPAX5. 61
32237276 2020
36
Spinocerebellar Ataxia Type 28-Phenotypic and Molecular Characterization of a Family with Heterozygous and Compound-Heterozygous Mutations in AFG3L2. 61
31111429 2019
37
Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activation. 61
30910913 2019
38
Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity. 61
30389403 2019
39
Recessive AFG3L2 Mutation Causes Progressive Microcephaly, Early Onset Seizures, Spasticity, and Basal Ganglia Involvement. 61
28449981 2017
40
A novel AFG3L2 mutation in a Somalian patient with spinocerebellar ataxia type 28. 61
26454370 2015
41
Clonal expansion of secondary mitochondrial DNA deletions associated with spinocerebellar ataxia type 28. 61
25420100 2015
42
Purkinje neuron Ca2+ influx reduction rescues ataxia in SCA28 model. 61
25485680 2015
43
Deletion of AFG3L2 associated with spinocerebellar ataxia type 28 in the context of multiple genomic anomalies. 61
25251419 2014
44
AFG3L2 supports mitochondrial protein synthesis and Purkinje cell survival. 61
23041622 2012
45
Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort. 61
22964162 2012
46
Respiratory dysfunction by AFG3L2 deficiency causes decreased mitochondrial calcium uptake via organellar network fragmentation. 61
22678058 2012
47
Spinocerebellar ataxia type 28. 61
21827917 2012
48
Spinocerebellar Ataxia Type 28 61
21595125 2011
49
Haploinsufficiency of AFG3L2, the gene responsible for spinocerebellar ataxia type 28, causes mitochondria-mediated Purkinje cell dark degeneration. 61
19625515 2009

Variations for Spinocerebellar Ataxia 28

ClinVar genetic disease variations for Spinocerebellar Ataxia 28:

6 (show top 50) (show all 68)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 AFG3L2 NM_006796.2(AFG3L2):c.2071G>A (p.Glu691Lys) SNV Pathogenic 5470 rs151344520 GRCh37: 18:12337444-12337444
GRCh38: 18:12337445-12337445
2 AFG3L2 NM_006796.2(AFG3L2):c.2021_2022delinsTA (p.Ser674Leu) Indel Pathogenic 5471 rs151344519 GRCh37: 18:12337493-12337494
GRCh38: 18:12337494-12337495
3 AFG3L2 NM_006796.2(AFG3L2):c.2081C>A (p.Ala694Glu) SNV Pathogenic 5472 rs151344521 GRCh37: 18:12337434-12337434
GRCh38: 18:12337435-12337435
4 AFG3L2 NM_006796.2(AFG3L2):c.1295A>C (p.Asn432Thr) SNV Pathogenic 5474 rs151344512 GRCh37: 18:12353027-12353027
GRCh38: 18:12353028-12353028
5 AFG3L2 NM_006796.2(AFG3L2):c.1997T>G (p.Met666Arg) SNV Pathogenic 30424 rs151344515 GRCh37: 18:12337518-12337518
GRCh38: 18:12337519-12337519
6 AFG3L2 NM_006796.2(AFG3L2):c.2011G>A (p.Gly671Arg) SNV Pathogenic 30425 rs151344517 GRCh37: 18:12337504-12337504
GRCh38: 18:12337505-12337505
7 AFG3L2 NM_006796.2(AFG3L2):c.1997T>C (p.Met666Thr) SNV Pathogenic 38389 rs151344515 GRCh37: 18:12337518-12337518
GRCh38: 18:12337519-12337519
8 AFG3L2 NM_006796.2(AFG3L2):c.2012G>A (p.Gly671Glu) SNV Pathogenic 38392 rs151344518 GRCh37: 18:12337503-12337503
GRCh38: 18:12337504-12337504
9 AFG3L2 NM_006796.2(AFG3L2):c.2098G>A (p.Glu700Lys) SNV Pathogenic 38393 rs151344522 GRCh37: 18:12337417-12337417
GRCh38: 18:12337418-12337418
10 AFG3L2 NM_006796.2(AFG3L2):c.1164+1G>A SNV Pathogenic 638488 rs1598832526 GRCh37: 18:12356692-12356692
GRCh38: 18:12356693-12356693
11 AFG3L2 NM_006796.2(AFG3L2):c.1996A>G (p.Met666Val) SNV Pathogenic 30423 rs151344514 GRCh37: 18:12337519-12337519
GRCh38: 18:12337520-12337520
12 AFG3L2 NM_006796.3(AFG3L2):c.2105G>A SNV Pathogenic 5473 rs151344523 GRCh37: 18:12337410-12337410
GRCh38: 18:12337411-12337411
13 AFG3L2 NM_006796.2(AFG3L2):c.1961C>T (p.Thr654Ile) SNV Pathogenic/Likely pathogenic 38387 rs151344513 GRCh37: 18:12340219-12340219
GRCh38: 18:12340220-12340220
14 AFG3L2 NM_006796.3(AFG3L2):c.2065T>C (p.Tyr689His) SNV Likely pathogenic 807537 rs1598820860 GRCh37: 18:12337450-12337450
GRCh38: 18:12337451-12337451
15 AFG3L2 NM_006796.3(AFG3L2):c.1119T>A (p.Ser373Arg) SNV Likely pathogenic 807538 rs1598832568 GRCh37: 18:12356738-12356738
GRCh38: 18:12356739-12356739
16 AFG3L2 NC_000018.10:g.12377261G>A SNV Uncertain significance 889851 GRCh37: 18:12377260-12377260
GRCh38: 18:12377261-12377261
17 AFG3L2 NM_006796.3(AFG3L2):c.891G>A (p.Lys297=) SNV Uncertain significance 891341 GRCh37: 18:12358804-12358804
GRCh38: 18:12358805-12358805
18 AFG3L2 , TUBB6 NM_006796.3(AFG3L2):c.*379T>A SNV Uncertain significance 892473 GRCh37: 18:12329185-12329185
GRCh38: 18:12329186-12329186
19 AFG3L2 NM_006796.3(AFG3L2):c.267T>G (p.Pro89=) SNV Uncertain significance 892531 GRCh37: 18:12370873-12370873
GRCh38: 18:12370874-12370874
20 AFG3L2 NM_006796.3(AFG3L2):c.244A>C (p.Asn82His) SNV Uncertain significance 975855 GRCh37: 18:12370896-12370896
GRCh38: 18:12370897-12370897
21 AFG3L2 NM_006796.2(AFG3L2):c.114+12C>T SNV Uncertain significance 326113 rs758470020 GRCh37: 18:12376956-12376956
GRCh38: 18:12376957-12376957
22 AFG3L2 NM_006796.3(AFG3L2):c.2167G>A SNV Uncertain significance 214062 rs139469785 GRCh37: 18:12337348-12337348
GRCh38: 18:12337349-12337349
23 AFG3L2 NM_006796.3(AFG3L2):c.53G>T (p.Gly18Val) SNV Uncertain significance 1030158 GRCh37: 18:12377029-12377029
GRCh38: 18:12377030-12377030
24 AFG3L2 NM_006796.2(AFG3L2):c.-18A>G SNV Uncertain significance 326116 rs886053618 GRCh37: 18:12377099-12377099
GRCh38: 18:12377100-12377100
25 AFG3L2 NM_006796.2(AFG3L2):c.1397C>T (p.Pro466Leu) SNV Uncertain significance 214053 rs375098002 GRCh37: 18:12351334-12351334
GRCh38: 18:12351335-12351335
26 AFG3L2 , TUBB6 NM_006796.2(AFG3L2):c.*585A>C SNV Uncertain significance 326094 rs886053611 GRCh37: 18:12328979-12328979
GRCh38: 18:12328980-12328980
27 AFG3L2 , TUBB6 NM_006796.2(AFG3L2):c.2346G>T (p.Glu782Asp) SNV Uncertain significance 326102 rs886053614 GRCh37: 18:12329612-12329612
GRCh38: 18:12329613-12329613
28 AFG3L2 NM_006796.3(AFG3L2):c.1796G>A (p.Arg599His) SNV Uncertain significance 889094 GRCh37: 18:12340384-12340384
GRCh38: 18:12340385-12340385
29 AFG3L2 NM_006796.3(AFG3L2):c.1706A>C (p.Lys569Thr) SNV Uncertain significance 889095 GRCh37: 18:12344204-12344204
GRCh38: 18:12344205-12344205
30 AFG3L2 NM_006796.3(AFG3L2):c.-78C>A SNV Uncertain significance 889174 GRCh37: 18:12377159-12377159
GRCh38: 18:12377160-12377160
31 AFG3L2 NM_006796.3(AFG3L2):c.-139T>C SNV Uncertain significance 889175 GRCh37: 18:12377220-12377220
GRCh38: 18:12377221-12377221
32 AFG3L2 NM_006796.3(AFG3L2):c.1516G>T (p.Ala506Ser) SNV Uncertain significance 889790 GRCh37: 18:12351120-12351120
GRCh38: 18:12351121-12351121
33 AFG3L2 , TUBB6 NM_006796.2(AFG3L2):c.*221A>G SNV Uncertain significance 326099 rs886053613 GRCh37: 18:12329343-12329343
GRCh38: 18:12329344-12329344
34 AFG3L2 NM_006796.2(AFG3L2):c.268A>G (p.Lys90Glu) SNV Uncertain significance 326110 rs886053616 GRCh37: 18:12370872-12370872
GRCh38: 18:12370873-12370873
35 AFG3L2 , TUBB6 NM_006796.2(AFG3L2):c.*373G>A SNV Uncertain significance 326096 rs886053612 GRCh37: 18:12329191-12329191
GRCh38: 18:12329192-12329192
36 AFG3L2 NM_006796.2(AFG3L2):c.1397C>T (p.Pro466Leu) SNV Uncertain significance 214053 rs375098002 GRCh37: 18:12351334-12351334
GRCh38: 18:12351335-12351335
37 AFG3L2 NM_006796.2(AFG3L2):c.571G>A (p.Val191Ile) SNV Uncertain significance 548568 rs1373473541 GRCh37: 18:12363837-12363837
GRCh38: 18:12363838-12363838
38 AFG3L2 , TUBB6 NM_006796.2(AFG3L2):c.*326G>A SNV Uncertain significance 326097 rs180917336 GRCh37: 18:12329238-12329238
GRCh38: 18:12329239-12329239
39 AFG3L2 NM_006796.2(AFG3L2):c.-92T>C SNV Uncertain significance 326119 rs574201536 GRCh37: 18:12377173-12377173
GRCh38: 18:12377174-12377174
40 AFG3L2 , TUBB6 NM_006796.2(AFG3L2):c.*484A>G SNV Uncertain significance 326095 rs565352114 GRCh37: 18:12329080-12329080
GRCh38: 18:12329081-12329081
41 AFG3L2 NM_006796.2(AFG3L2):c.89C>T (p.Pro30Leu) SNV Uncertain significance 326115 rs886053617 GRCh37: 18:12376993-12376993
GRCh38: 18:12376994-12376994
42 AFG3L2 NM_006796.2(AFG3L2):c.1664-5G>C SNV Uncertain significance 326105 rs886053615 GRCh37: 18:12344251-12344251
GRCh38: 18:12344252-12344252
43 AFG3L2 NM_006796.2(AFG3L2):c.2035C>T (p.Arg679Cys) SNV Likely benign 326104 rs551015841 GRCh37: 18:12337480-12337480
GRCh38: 18:12337481-12337481
44 AFG3L2 NM_006796.2(AFG3L2):c.2175+14G>A SNV Likely benign 326103 rs758755215 GRCh37: 18:12337326-12337326
GRCh38: 18:12337327-12337327
45 AFG3L2 NM_006796.2(AFG3L2):c.1426+9A>T SNV Likely benign 326106 rs377339236 GRCh37: 18:12351296-12351296
GRCh38: 18:12351297-12351297
46 AFG3L2 NM_006796.2(AFG3L2):c.1065G>A (p.Thr355=) SNV Likely benign 668162 rs139181972 GRCh37: 18:12356792-12356792
GRCh38: 18:12356793-12356793
47 AFG3L2 NM_006796.3(AFG3L2):c.718C>T (p.Arg240Trp) SNV Likely benign 892530 GRCh37: 18:12359960-12359960
GRCh38: 18:12359961-12359961
48 AFG3L2 NM_006796.3(AFG3L2):c.1089A>G (p.Gly363=) SNV Likely benign 891340 GRCh37: 18:12356768-12356768
GRCh38: 18:12356769-12356769
49 AFG3L2 NM_006796.2(AFG3L2):c.498C>T (p.Ser166=) SNV Benign 326108 rs141538541 GRCh37: 18:12367018-12367018
GRCh38: 18:12367019-12367019
50 AFG3L2 , TUBB6 NM_006796.2(AFG3L2):c.*2G>A SNV Benign 136316 rs113981080 GRCh37: 18:12329562-12329562
GRCh38: 18:12329563-12329563

UniProtKB/Swiss-Prot genetic disease variations for Spinocerebellar Ataxia 28:

72 (show all 14)
# Symbol AA change Variation ID SNP ID
1 AFG3L2 p.Asn432Thr VAR_063544 rs151344512
2 AFG3L2 p.Glu691Lys VAR_063545 rs151344520
3 AFG3L2 p.Ala694Glu VAR_063546 rs151344521
4 AFG3L2 p.Arg702Gln VAR_063547 rs151344523
5 AFG3L2 p.Thr654Ile VAR_064402 rs151344513
6 AFG3L2 p.Met666Arg VAR_064403 rs151344515
7 AFG3L2 p.Met666Thr VAR_064404 rs151344515
8 AFG3L2 p.Met666Val VAR_064405 rs151344514
9 AFG3L2 p.Gly671Glu VAR_064406 rs151344518
10 AFG3L2 p.Gly671Arg VAR_064407 rs151344517
11 AFG3L2 p.Glu700Lys VAR_064408 rs151344522
12 AFG3L2 p.Tyr689His VAR_075198
13 AFG3L2 p.Tyr689Asn VAR_075199
14 THG1L p.Val55Ala VAR_083901

Expression for Spinocerebellar Ataxia 28

Search GEO for disease gene expression data for Spinocerebellar Ataxia 28.

Pathways for Spinocerebellar Ataxia 28

Pathways related to Spinocerebellar Ataxia 28 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.29 OMA1 KCNC3 AFG3L2
2 10.72 TIMM9 TIMM44 TIMM17A TIMM10

GO Terms for Spinocerebellar Ataxia 28

Cellular components related to Spinocerebellar Ataxia 28 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial inner membrane GO:0005743 9.77 YME1L1 TIMM9 TIMM44 TIMM17A TIMM10 SPG7
2 mitochondrial matrix GO:0005759 9.73 TIMM44 MAIP1 CLPX CLPP
3 mitochondrial intermembrane space GO:0005758 9.58 TIMM9 TIMM10 PRELID1
4 mitochondrion GO:0005739 9.55 YME1L1 TIMM9 TIMM44 TIMM17A TIMM10 THG1L
5 TIM23 mitochondrial import inner membrane translocase complex GO:0005744 9.37 TIMM17A TIMM10
6 mitochondrial intermembrane space protein transporter complex GO:0042719 9.32 TIMM9 TIMM10
7 endopeptidase Clp complex GO:0009368 9.26 CLPX CLPP
8 m-AAA complex GO:0005745 9.16 SPG7 AFG3L2

Biological processes related to Spinocerebellar Ataxia 28 according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 9.81 YME1L1 SPG7 PARL OMA1 METAP1D IMMP1L
2 mitochondrion organization GO:0007005 9.67 YME1L1 SPG7 AFG3L2
3 mitochondrial fusion GO:0008053 9.58 THG1L SPG7 AFG3L2
4 protein targeting to mitochondrion GO:0006626 9.56 TIMM9 TIMM44 TIMM17A TIMM10
5 cristae formation GO:0042407 9.55 SPG7 AFG3L2
6 protein autoprocessing GO:0016540 9.54 OMA1 AFG3L2
7 membrane protein proteolysis GO:0033619 9.54 PARL CLPP AFG3L2
8 protein import into mitochondrial matrix GO:0030150 9.52 TIMM44 TIMM17A
9 mitochondrial calcium ion homeostasis GO:0051560 9.51 MAIP1 AFG3L2
10 protein quality control for misfolded or incompletely synthesized proteins GO:0006515 9.5 YME1L1 OMA1 CLPP
11 protein import into mitochondrial inner membrane GO:0045039 9.48 TIMM9 TIMM10
12 calcium import into the mitochondrion GO:0036444 9.46 MAIP1 AFG3L2
13 chaperone-mediated protein transport GO:0072321 9.43 TIMM9 TIMM10
14 mitochondrial protein processing GO:0034982 9.26 YME1L1 SPG7 OMA1 AFG3L2
15 mitochondrial calcium ion transmembrane transport GO:0006851 9.02 YME1L1 SPG7 PARL MAIP1 AFG3L2

Molecular functions related to Spinocerebellar Ataxia 28 according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 metal ion binding GO:0046872 10.2 YME1L1 TIMM9 TIMM10 THG1L SPG7 OMA1
2 nucleotide binding GO:0000166 10.08 YME1L1 TIMM44 THG1L SPG7 NOA1 MORC2
3 ATP binding GO:0005524 10.05 YME1L1 TIMM44 THG1L SPG7 MORC2 CLPX
4 hydrolase activity GO:0016787 9.97 YME1L1 SPG7 PARL OMA1 MORC2 METAP1D
5 zinc ion binding GO:0008270 9.91 TIMM9 TIMM10 SPG7 MORC2 CLPX AFG3L2
6 metallopeptidase activity GO:0008237 9.71 YME1L1 SPG7 OMA1 AFG3L2
7 serine-type peptidase activity GO:0008236 9.7 PARL IMMP1L CLPP
8 chaperone binding GO:0051087 9.67 TIMM9 TIMM44 TIMM10
9 unfolded protein binding GO:0051082 9.67 SPG7 CRYAA CLPX AFG3L2
10 metalloendopeptidase activity GO:0004222 9.56 YME1L1 SPG7 OMA1 AFG3L2
11 peptidase activity GO:0008233 9.56 YME1L1 SPG7 PARL OMA1 METAP1D IMMP1L
12 ATPase activity GO:0016887 9.55 YME1L1 SPG7 MORC2 CLPX AFG3L2
13 ATP-dependent peptidase activity GO:0004176 9.02 YME1L1 SPG7 CLPX CLPP AFG3L2

Sources for Spinocerebellar Ataxia 28

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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