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SCA14
MCID: SPN312
MIFTS: 45

Spinocerebellar Ataxia 14 (SCA14)

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Spinocerebellar Ataxia 14

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MalaCards integrated aliases for Spinocerebellar Ataxia 14:

Name: Spinocerebellar Ataxia 14 57 20 72 13 70
Spinocerebellar Ataxia Type 14 12 25 20 58 29 6 15
Sca14 57 25 20 58 72 54
Ataxia, Spinocerebellar, Type 14 39

Characteristics:

Orphanet epidemiological data:

58
spinocerebellar ataxia type 14
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide);

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
slow progression
incomplete penetrance
mean age of onset 31 years (range 5-60)

Inheritance:
autosomal dominant


HPO:

31
spinocerebellar ataxia 14:
Inheritance autosomal dominant inheritance
Onset and clinical course slow progression incomplete penetrance


GeneReviews:

25
Penetrance Clinically unaffected individuals with prkcg pathogenic variants who are older than age 60 years have been described in at least three families [yabe et al 2003, chen et al 2005].

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Fetal diseases
Anatomical: Neuronal diseases Eye diseases Liver diseases Skin diseases Ear diseases Muscle diseases Mental diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0050964
OMIM® 57 605361
OMIM Phenotypic Series 57 PS164400
MeSH 44 D020754
MESH via Orphanet 45 C537196
ICD10 via Orphanet 33 G11.2
UMLS via Orphanet 71 C1854369
Orphanet 58 ORPHA98763
MedGen 41 C1854369
UMLS 70 C1854369
Sources

Summaries for Spinocerebellar Ataxia 14

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GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 98763 Definition Spinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive ataxia, dysarthria and nystagmus. Epidemiology The disease has been reported in more than twenty families from Europe, the United States, and Australia. Clinical description Onset is usually in early adulthood while symptomatic disease onset may be from 10 to 70 years (mean = 33.9 years). In addition to cerebellar signs, hyperreflexia and decreased vibration sense are frequently observed. Some patients have cognitive impairment, parkinsonism characterized by rigidity, as well as focal dystonia, axial myoclonus, facial myokymia, choreic movement of hands and epilepsy. Etiology SCA14 is caused by missense mutations in the PRKCG gene (19q13.4) encoding protein kinase C gamma (PKC-gamma). Prognosis Prognosis is good. Some patients need supportive devices such as a cane or wheelchair for gait impairment. However, several affected patients have lived beyond 80 years of age.

MalaCards based summary : Spinocerebellar Ataxia 14, also known as spinocerebellar ataxia type 14, is related to autosomal dominant cerebellar ataxia and cerebellar disease, and has symptoms including gait ataxia and memory loss. An important gene associated with Spinocerebellar Ataxia 14 is PRKCG (Protein Kinase C Gamma), and among its related pathways/superpathways are Myometrial Relaxation and Contraction Pathways and Spinocerebellar ataxia. Affiliated tissues include eye, cerebellum and spinal cord, and related phenotypes are gait ataxia and generalized hypotonia

Disease Ontology : 12 An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria and dysphagia, has material basis in mutation in the PRKCG gene.

UniProtKB/Swiss-Prot : 72 Spinocerebellar ataxia 14: 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. SCA14 is an autosomal dominant cerebellar ataxia (ADCA).

More information from OMIM: 605361 PS164400
GeneReviews: NBK1399
Sources

Related Diseases for Spinocerebellar Ataxia 14

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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 14 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 39)
# Related Disease Score Top Affiliating Genes
1 autosomal dominant cerebellar ataxia 30.2 PRKCG CACNA1A APTX
2 cerebellar disease 29.8 PRKCG CACNA1A APTX
3 hereditary ataxia 29.4 TRPC3 PRKCG CACNA1A APTX
4 spinocerebellar ataxia, autosomal recessive 14 11.6
5 dystonia 11, myoclonic 10.9
6 ataxia and polyneuropathy, adult-onset 10.4
7 movement disease 10.2
8 cerebellar ataxia type 41 10.2 TRPC3 PRKCG
9 tremor 10.1
10 alzheimer disease 10.1
11 multiple system atrophy 1 10.1
12 spinocerebellar ataxia 1 10.1
13 kearns-sayre syndrome 10.1
14 dystonia, focal, task-specific 10.1
15 mild cognitive impairment 10.1
16 parkinsonism 10.1
17 peripheral nervous system disease 10.1
18 paraplegia 10.1
19 prion disease 10.1
20 neuropathy 10.1
21 sgce myoclonus-dystonia 10.1
22 dysphagia 10.1
23 spasticity 10.1
24 cerebellar ataxia type 42 10.0 TRPC3 CACNA1A
25 dystonia 10.0
26 myoclonus 10.0
27 vestibular nystagmus 10.0 CACNA1A APTX
28 huntington disease 10.0
29 pathologic nystagmus 10.0
30 mental retardation, x-linked, with cerebellar hypoplasia and distinctive facial appearance 10.0 CACNA1A APTX
31 pontocerebellar hypoplasia, type 7 9.9 CACNA1A APTX
32 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 9.9 CACNA1A APTX
33 focal dystonia 9.9
34 cervical dystonia 9.9
35 retinal degeneration 9.9
36 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 9.9 PRKCG CACNA1A APTX
37 spinocerebellar ataxia 6 9.9 PRKCG CACNA1A
38 dentatorubral-pallidoluysian atrophy 9.8 PRKCG CACNA1A APTX
39 episodic ataxia, type 2 9.8 PRKCG CACNA1A

Graphical network of the top 20 diseases related to Spinocerebellar Ataxia 14:



Diseases related to Spinocerebellar Ataxia 14
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Symptoms & Phenotypes for Spinocerebellar Ataxia 14

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Human phenotypes related to Spinocerebellar Ataxia 14:

58 31 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 gait ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002066
2 generalized hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001290
3 cerebellar vermis atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0006855
4 abnormality of the achilles tendon 58 31 frequent (33%) Frequent (79-30%) HP:0005109
5 progressive cerebellar ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0002073
6 limb ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0002070
7 dysarthria 58 31 occasional (7.5%) Occasional (29-5%) HP:0001260
8 tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0001337
9 cognitive impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0100543
10 myoclonus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001336
11 rigidity 58 31 occasional (7.5%) Occasional (29-5%) HP:0002063
12 sensory impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0003474
13 saccadic smooth pursuit 58 31 occasional (7.5%) Occasional (29-5%) HP:0001152
14 hyporeflexia of lower limbs 58 31 occasional (7.5%) Occasional (29-5%) HP:0002600
15 gaze-evoked nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000640
16 hyperreflexia 31 HP:0001347
17 nystagmus 31 HP:0000639
18 depressivity 31 HP:0000716
19 dysphagia 31 HP:0002015
20 attention deficit hyperactivity disorder 31 HP:0007018
21 dysmetria 31 HP:0001310
22 mental deterioration 31 HP:0001268
23 memory impairment 31 HP:0002354
24 cerebellar atrophy 31 HP:0001272
25 focal dystonia 31 HP:0004373
26 impaired vibration sensation at ankles 31 HP:0006938
27 facial myokymia 31 HP:0000317

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
hyperreflexia
dysarthria
dysphagia
dysmetria
gait ataxia
more
Head And Neck Face:
facial myokymia

Neurologic Peripheral Nervous System:
decreased vibration sense at ankles

Head And Neck Eyes:
nystagmus
eye movement abnormalities
saccadic intrusions

Neurologic Behavioral Psychiatric Manifestations:
memory loss
depression
cognitive decline
attention deficits

Clinical features from OMIM®:

605361 (Updated 05-Apr-2021)

UMLS symptoms related to Spinocerebellar Ataxia 14:


gait ataxia; memory loss

GenomeRNAi Phenotypes related to Spinocerebellar Ataxia 14 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased viability GR00231-A 9.1 CDK13
2 Increased viability GR00342-S-1 9.1 PRKCG
3 Increased viability GR00342-S-2 9.1 DGKG PRKCG
4 Increased viability GR00342-S-3 9.1 DGKG PRKCG
5 Decreased cell viability after pRB stimulation GR00230-A-1 8.96 DGKG PRKCG
Sources

Drugs & Therapeutics for Spinocerebellar Ataxia 14

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Search Clinical Trials , NIH Clinical Center for Spinocerebellar Ataxia 14

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Genetic Tests for Spinocerebellar Ataxia 14

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Genetic tests related to Spinocerebellar Ataxia 14:

# Genetic test Affiliating Genes
1 Spinocerebellar Ataxia Type 14 29 PRKCG
Sources

Anatomical Context for Spinocerebellar Ataxia 14

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MalaCards organs/tissues related to Spinocerebellar Ataxia 14:

40
Eye, Cerebellum, Spinal Cord, Cortex
Sources

Publications for Spinocerebellar Ataxia 14

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Articles related to Spinocerebellar Ataxia 14:

(show top 50) (show all 82)
# Title Authors PMID Year
1
Protein kinase C gamma, a protein causative for dominant ataxia, negatively regulates nuclear import of recessive-ataxia-related aprataxin. 61 57 6 25 54
19561170 2009
2
New mutations in protein kinase Cgamma associated with spinocerebellar ataxia type 14. 6 25 57 54 61
16193476 2005
3
Gly118Asp is a SCA14 founder mutation in the Dutch ataxia population. 57 25 6 54 61
15841389 2005
4
Mutation in the catalytic domain of protein kinase C gamma and extension of the phenotype associated with spinocerebellar ataxia type 14. 61 54 6 25 57
15313841 2004
5
Spinocerebellar ataxia type 14 caused by a mutation in protein kinase C gamma. 6 57 61 25 54
14676051 2003
6
A Japanese case of SCA14 with the Gly128Asp mutation. 61 54 6 57
17024314 2006
7
Identification of a novel SCA14 mutation in a Dutch autosomal dominant cerebellar ataxia family. 25 57 6
14694043 2003
8
Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia. 6 57 25
12644968 2003
9
A new dominant spinocerebellar ataxia linked to chromosome 19q13.4-qter. 25 57 6
12164726 2002
10
The clinical and genetic spectrum of spinocerebellar ataxia 14. 61 54 6 25
15824357 2005
11
Exome sequencing in an SCA14 family demonstrates its utility in diagnosing heterogeneous diseases. 57 25
22675081 2012
12
Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 25 6
21937992 2011
13
Protein kinase C gamma mutations in spinocerebellar ataxia 14 increase kinase activity and alter membrane targeting. 61 54 6
15618281 2005
14
A novel H101Q mutation causes PKCgamma loss in spinocerebellar ataxia type 14. 54 6 61
16189624 2005
15
A novel locus for dominant cerebellar ataxia (SCA14) maps to a 10.2-cM interval flanked by D19S206 and D19S605 on chromosome 19q13.4-qter. 25 57
10939565 2000
16
Expansion of the phenotypic spectrum of SCA14 caused by the Gly128Asp mutation in PRKCG. 54 25 61
18986758 2009
17
PKC gamma mutations in spinocerebellar ataxia type 14 affect C1 domain accessibility and kinase activity leading to aberrant MAPK signaling. 25 54 61
18577575 2008
18
Another mutation in cysteine 131 in protein kinase C gamma as a cause of spinocerebellar ataxia type 14. 57 61
17562946 2007
19
Identification of a new family of spinocerebellar ataxia type 14 in the Japanese spinocerebellar ataxia population by the screening of PRKCG exon 4. 61 25 54
16763984 2006
20
Spinocerebellar Ataxia Type 14 6 61
20301573 2005
21
Spinocerebellar ataxia type 14 caused by a nonsense mutation in the PRKCG gene. 61 25
31158466 2019
22
Reduced Purkinje cell size is compatible with near normal morphology and function of the cerebellar cortex in a mouse model of spinocerebellar ataxia. 61 25
30312605 2019
23
Neurodegeneration in SCA14 is associated with increased PKCγ kinase activity, mislocalization and aggregation. 25 61
30249303 2018
24
Genotype-phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14. 61 25
29603387 2018
25
Identification and characterization of PKCγ, a kinase associated with SCA14, as an amyloidogenic protein. 61 25
25217572 2015
26
Increased protein kinase C gamma activity induces Purkinje cell pathology in a mouse model of spinocerebellar ataxia 14. 25 61
24937631 2014
27
Clinical and neurophysiological profile of four German families with spinocerebellar ataxia type 14. 25 61
24030789 2014
28
Cognition is only minimally impaired in Spinocerebellar ataxia type 14 (SCA14): a neuropsychological study of ten Norwegian subjects compared to intrafamilial controls and population norm. 25 61
24289098 2013
29
Myoclonus-dystonia and spinocerebellar ataxia type 14 presenting with similar phenotypes: trunk tremor, myoclonus, and dystonia. 25 61
19913450 2010
30
Mutant gammaPKC found in spinocerebellar ataxia type 14 induces aggregate-independent maldevelopment of dendrites in primary cultured Purkinje cells. 61 25
19041943 2009
31
Activation of mutant protein kinase Cgamma leads to aberrant sequestration and impairment of its cellular function. 25 61
18503760 2008
32
Enzymological analysis of mutant protein kinase Cgamma causing spinocerebellar ataxia type 14 and dysfunction in Ca2+ homeostasis. 61 25
18499672 2008
33
Aggregate formation of mutant protein kinase C gamma found in spinocerebellar ataxia type 14 impairs ubiquitin-proteasome system and induces endoplasmic reticulum stress. 25 61
18005063 2007
34
Benign SCA14 phenotype in a German patient associated with a missense mutation in exon 3 of the PRKCG gene. 25 54
17708558 2007
35
Codon 101 of PRKCG, a preferential mutation site in SCA14. 6
17659643 2007
36
PRKCG mutation (SCA-14) causing a Ramsay Hunt phenotype. 25 61
17343273 2007
37
Spinocerebellar ataxia 14: novel mutation in exon 2 of PRKCG in a German family. 61 25
17149711 2007
38
Spinocerebellar ataxia type 14: study of a family with an exon 5 mutation in the PRKCG gene. 61 25
16291902 2005
39
Mutant protein kinase Cgamma found in spinocerebellar ataxia type 14 is susceptible to aggregation and causes cell death. 61 25
15964845 2005
40
Protein kinase C activity is a protective modifier of Purkinje neuron degeneration in cerebellar ataxia. 25
29432535 2018
41
A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies. 25
28444220 2017
42
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. 25
28349240 2017
43
Timing, rates and spectra of human germline mutation. 25
26656846 2016
44
A de novo SCA14 mutation in an isolated case of late-onset cerebellar ataxia. 25
23853068 2013
45
SCA14 in Norway, two families with autosomal dominant cerebellar ataxia and a novel mutation in the PRKCG gene. 25
21434874 2012
46
Protection from ataxia-linked apoptosis by gap junction inhibitors. 61 54
17822669 2007
47
Spectrum and prevalence of autosomal dominant spinocerebellar ataxia in Hokkaido, the northern island of Japan: a study of 113 Japanese families. 25
17805477 2007
48
Mutation of the highly conserved cysteine residue 131 of the SCA14 associated PRKCG gene in a family with slow progressive cerebellar ataxia. 25
16649092 2006
49
Novel PRKCG/SCA14 mutation in a Dutch spinocerebellar ataxia family: expanding the phenotype. 25
16547918 2006
50
Peripheral nerve involvement in spinocerebellar ataxias. 25
14967775 2004
Sources

Variations for Spinocerebellar Ataxia 14

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ClinVar genetic disease variations for Spinocerebellar Ataxia 14:

6 (show top 50) (show all 92)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PRKCG NM_002739.5(PRKCG):c.301C>T (p.His101Tyr) SNV Pathogenic 13244 rs121918511 GRCh37: 19:54392907-54392907
GRCh38: 19:53889653-53889653
2 PRKCG NM_002739.5(PRKCG):c.355T>C (p.Ser119Pro) SNV Pathogenic 13245 rs121918512 GRCh37: 19:54392961-54392961
GRCh38: 19:53889707-53889707
3 PRKCG NM_002739.5(PRKCG):c.383G>A (p.Gly128Asp) SNV Pathogenic 13246 rs121918513 GRCh37: 19:54392989-54392989
GRCh38: 19:53889735-53889735
4 PRKCG NM_002739.5(PRKCG):c.353G>A (p.Gly118Asp) SNV Pathogenic 13247 rs121918514 GRCh37: 19:54392959-54392959
GRCh38: 19:53889705-53889705
5 PRKCG NM_002739.5(PRKCG):c.380A>G (p.Gln127Arg) SNV Pathogenic 13248 rs121918515 GRCh37: 19:54392986-54392986
GRCh38: 19:53889732-53889732
6 PRKCG NM_002739.5(PRKCG):c.1927T>C (p.Phe643Leu) SNV Pathogenic 13249 rs121918516 GRCh37: 19:54409982-54409982
GRCh38: 19:53906728-53906728
7 PRKCG NM_002739.5(PRKCG):c.303C>G (p.His101Gln) SNV Pathogenic 13251 rs121918518 GRCh37: 19:54392909-54392909
GRCh38: 19:53889655-53889655
8 PRKCG NM_002739.5(PRKCG):c.2091_*98del (p.Met697_Ter698delinsXaa) Deletion Pathogenic 13252 rs1555808841 GRCh37: 19:54410146-54410247
GRCh38: 19:53906892-53906993
9 PRKCG NM_002739.3(PRKCG):c.530_919del Deletion Pathogenic 29857 GRCh37:
GRCh38:
10 PRKCG NM_002739.5(PRKCG):c.1438G>T (p.Asp480Tyr) SNV Pathogenic 29858 rs387906679 GRCh37: 19:54403866-54403866
GRCh38: 19:53900612-53900612
11 PRKCG NM_002739.5(PRKCG):c.1078G>A (p.Gly360Ser) SNV Pathogenic 42129 rs386134171 GRCh37: 19:54401351-54401351
GRCh38: 19:53898097-53898097
12 PRKCG NM_002739.5(PRKCG):c.122G>C (p.Arg41Pro) SNV Pathogenic 42132 rs386134158 GRCh37: 19:54385870-54385870
GRCh38: 19:53882616-53882616
13 PRKCG NM_002739.5(PRKCG):c.188G>T (p.Gly63Val) SNV Pathogenic 42140 rs386134159 GRCh37: 19:54386434-54386434
GRCh38: 19:53883180-53883180
14 PRKCG NM_002739.5(PRKCG):c.229T>A (p.Cys77Ser) SNV Pathogenic 42148 rs386134160 GRCh37: 19:54387441-54387441
GRCh38: 19:53884187-53884187
15 PRKCG NM_002739.5(PRKCG):c.300_305del (p.His101_Lys102del) Deletion Pathogenic 42157 rs386134161 GRCh37: 19:54392902-54392907
GRCh38: 19:53889648-53889653
16 PRKCG NM_002739.5(PRKCG):c.341G>A (p.Cys114Tyr) SNV Pathogenic 42161 rs386134162 GRCh37: 19:54392947-54392947
GRCh38: 19:53889693-53889693
17 PRKCG NM_002739.5(PRKCG):c.356C>T (p.Ser119Phe) SNV Pathogenic 42163 rs386134163 GRCh37: 19:54392962-54392962
GRCh38: 19:53889708-53889708
18 PRKCG NM_002739.5(PRKCG):c.367G>A (p.Gly123Arg) SNV Pathogenic 42164 rs386134164 GRCh37: 19:54392973-54392973
GRCh38: 19:53889719-53889719
19 PRKCG NM_002739.5(PRKCG):c.368G>A (p.Gly123Glu) SNV Pathogenic 42165 rs386134165 GRCh37: 19:54392974-54392974
GRCh38: 19:53889720-53889720
20 PRKCG NM_002739.5(PRKCG):c.391T>C (p.Cys131Arg) SNV Pathogenic 42166 rs386134166 GRCh37: 19:54392997-54392997
GRCh38: 19:53889743-53889743
21 PRKCG NM_002739.5(PRKCG):c.392G>A (p.Cys131Tyr) SNV Pathogenic 42167 rs386134167 GRCh37: 19:54392998-54392998
GRCh38: 19:53889744-53889744
22 PRKCG NM_002739.5(PRKCG):c.449_450delinsTT (p.Cys150Phe) Indel Pathogenic 42170 rs386134170 GRCh37: 19:54393191-54393192
GRCh38: 19:53889937-53889938
23 PRKCG NM_002739.5(PRKCG):c.417C>A (p.His139Gln) SNV Pathogenic 42171 rs386134169 GRCh37: 19:54393159-54393159
GRCh38: 19:53889905-53889905
24 PRKCG NM_002739.5(PRKCG):c.76A>G (p.Arg26Gly) SNV Pathogenic 42174 rs386134157 GRCh37: 19:54385824-54385824
GRCh38: 19:53882570-53882570
25 PRKCG NM_002739.5(PRKCG):c.226C>T (p.Arg76Ter) SNV Pathogenic 918172 GRCh37: 19:54387438-54387438
GRCh38: 19:53884184-53884184
26 PRKCG NM_002739.5(PRKCG):c.767T>C (p.Met256Thr) SNV Pathogenic 918173 GRCh37: 19:54395843-54395843
GRCh38: 19:53892589-53892589
27 PRKCG NM_002739.5(PRKCG):c.302A>G (p.His101Arg) SNV Pathogenic 918174 GRCh37: 19:54392908-54392908
GRCh38: 19:53889654-53889654
28 PRKCG NM_002739.5:c.530_919del Deletion Pathogenic 932241 GRCh37:
GRCh38:
29 PRKCG NM_002739.5(PRKCG):c.1081A>G (p.Ser361Gly) SNV Pathogenic 13250 rs121918517 GRCh37: 19:54401354-54401354
GRCh38: 19:53898100-53898100
30 PRKCG NM_002739.5(PRKCG):c.413T>A (p.Val138Glu) SNV Pathogenic 42169 rs386134168 GRCh37: 19:54393155-54393155
GRCh38: 19:53889901-53889901
31 PRKCG NM_002739.5(PRKCG):c.2075T>G (p.Val692Gly) SNV Pathogenic 42145 rs78437096 GRCh37: 19:54410130-54410130
GRCh38: 19:53906876-53906876
32 PRKCG NM_002739.5(PRKCG):c.367G>C (p.Gly123Arg) SNV Likely pathogenic 804156 rs386134164 GRCh37: 19:54392973-54392973
GRCh38: 19:53889719-53889719
33 PRKCG NM_002739.5(PRKCG):c.230G>A (p.Cys77Tyr) SNV Likely pathogenic 804155 rs1599938631 GRCh37: 19:54387442-54387442
GRCh38: 19:53884188-53884188
34 PRKCG NM_002739.5(PRKCG):c.197G>A (p.Cys66Tyr) SNV Likely pathogenic 436421 rs1555806333 GRCh37: 19:54386443-54386443
GRCh38: 19:53883189-53883189
35 PRKCG NM_002739.5(PRKCG):c.347A>G (p.His116Arg) SNV Likely pathogenic 978272 GRCh37: 19:54392953-54392953
GRCh38: 19:53889699-53889699
36 PRKCG NM_002739.5(PRKCG):c.379C>A (p.Gln127Lys) SNV Likely pathogenic 804150 rs1599943097 GRCh37: 19:54392985-54392985
GRCh38: 19:53889731-53889731
37 PRKCG NM_002739.5(PRKCG):c.154T>A (p.Cys52Ser) SNV Likely pathogenic 211956 rs797045900 GRCh37: 19:54385902-54385902
GRCh38: 19:53882648-53882648
38 PRKCG NM_002739.5(PRKCG):c.-233C>T SNV Uncertain significance 330055 rs752173466 GRCh37: 19:54385516-54385516
GRCh38: 19:53882262-53882262
39 PRKCG NM_002739.5(PRKCG):c.*360G>C SNV Uncertain significance 330078 rs886054614 GRCh37: 19:54410509-54410509
GRCh38: 19:53907255-53907255
40 PRKCG NM_002739.5(PRKCG):c.*481T>C SNV Uncertain significance 330081 rs886054616 GRCh37: 19:54410630-54410630
GRCh38: 19:53907376-53907376
41 PRKCG NM_002739.5(PRKCG):c.2086G>A (p.Val696Ile) SNV Uncertain significance 330073 rs751824637 GRCh37: 19:54410141-54410141
GRCh38: 19:53906887-53906887
42 PRKCG NM_002739.5(PRKCG):c.1960C>T (p.Leu654=) SNV Uncertain significance 330070 rs753906154 GRCh37: 19:54410015-54410015
GRCh38: 19:53906761-53906761
43 PRKCG NM_002739.5(PRKCG):c.529+11G>T SNV Uncertain significance 330061 rs886054612 GRCh37: 19:54393282-54393282
GRCh38: 19:53890028-53890028
44 PRKCG NM_002739.5(PRKCG):c.*427T>C SNV Uncertain significance 330079 rs886054615 GRCh37: 19:54410576-54410576
GRCh38: 19:53907322-53907322
45 PRKCG NM_002739.5(PRKCG):c.*550C>T SNV Uncertain significance 330082 rs778703745 GRCh37: 19:54410699-54410699
GRCh38: 19:53907445-53907445
46 PRKCG NM_002739.5(PRKCG):c.1962G>C (p.Leu654=) SNV Uncertain significance 330071 rs868833808 GRCh37: 19:54410017-54410017
GRCh38: 19:53906763-53906763
47 PRKCG NM_002739.5(PRKCG):c.*39C>T SNV Uncertain significance 330074 rs776490487 GRCh37: 19:54410188-54410188
GRCh38: 19:53906934-53906934
48 PRKCG NM_002739.5(PRKCG):c.520C>G (p.His174Asp) SNV Uncertain significance 892593 GRCh37: 19:54393262-54393262
GRCh38: 19:53890008-53890008
49 PRKCG NM_002739.5(PRKCG):c.637C>A (p.Arg213=) SNV Uncertain significance 892594 GRCh37: 19:54395035-54395035
GRCh38: 19:53891781-53891781
50 PRKCG NM_002739.5(PRKCG):c.*415G>C SNV Uncertain significance 892634 GRCh37: 19:54410564-54410564
GRCh38: 19:53907310-53907310

UniProtKB/Swiss-Prot genetic disease variations for Spinocerebellar Ataxia 14:

72
# Symbol AA change Variation ID SNP ID
1 PRKCG p.His101Tyr VAR_017060 rs121918511
2 PRKCG p.Ser119Pro VAR_017061 rs121918512
3 PRKCG p.Gly128Asp VAR_017062 rs121918513
4 PRKCG p.Gly63Arg VAR_080740
5 PRKCG p.Gly63Val VAR_080741 rs386134159

Sources

Expression for Spinocerebellar Ataxia 14

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Search GEO for disease gene expression data for Spinocerebellar Ataxia 14.
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Pathways for Spinocerebellar Ataxia 14

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Pathways related to Spinocerebellar Ataxia 14 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Myometrial Relaxation and Contraction Pathways 1
Show member pathways
 11.92 PRKCG GJA8 CACNA1A
2
Spinocerebellar ataxia 36
11.29 TRPC3 PRKCG CACNA1A
3
Effects of PIP2 hydrolysis 65
Show member pathways
 10.66 TRPC3 DGKG
4
Long-term depression 36
10.58 PRKCG PPP1R17 CACNA1A
Sources

GO Terms for Spinocerebellar Ataxia 14

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Biological processes related to Spinocerebellar Ataxia 14 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 platelet activation GO:0030168 8.8 TRPC3 PRKCG DGKG
Sources

Sources for Spinocerebellar Ataxia 14

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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