MRD31
MCID: MNT226
MIFTS: 35

Mental Retardation, Autosomal Dominant 31 (MRD31)

Categories: Ear diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Mental Retardation, Autosomal Dominant 31

MalaCards integrated aliases for Mental Retardation, Autosomal Dominant 31:

Name: Mental Retardation, Autosomal Dominant 31 57 72 29 6 70
Mrd31 57 12 72
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due to a Point Mutation 58 6
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome 58
Autosomal Dominant Non-Syndromic Intellectual Disability 31 12
Mental Retardation, Autosomal Dominant, Type 31 39
Autosomal Dominant Mental Retardation 31 12

Characteristics:

Orphanet epidemiological data:

58
pura-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;
pura-related severe neonatal hypotonia-seizures-encephalopathy syndrome
Inheritance: Autosomal dominant,Not applicable;

OMIM®:

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

Miscellaneous:
variable severity
de novo mutation
onset at birth or early infancy


HPO:

31
mental retardation, autosomal dominant 31:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Mental Retardation, Autosomal Dominant 31

UniProtKB/Swiss-Prot : 72 Mental retardation, autosomal dominant 31: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD31 patients manifest neonatal hypotonia, encephalopathy with or without epilepsy, and severe developmental delay.

MalaCards based summary : Mental Retardation, Autosomal Dominant 31, also known as mrd31, is related to pura-related neurodevelopmental disorders, and has symptoms including seizures and myoclonus. An important gene associated with Mental Retardation, Autosomal Dominant 31 is PURA (Purine Rich Element Binding Protein A). Affiliated tissues include eye, heart and pituitary, and related phenotypes are feeding difficulties in infancy and respiratory distress

Disease Ontology : 12 An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of PURA on chromosome 5q31.3.

More information from OMIM: 616158 PS156200

Related Diseases for Mental Retardation, Autosomal Dominant 31

Diseases in the Mental Retardation, Autosomal Dominant 7 family:

Mental Retardation, Autosomal Recessive 2 Mental Retardation, Autosomal Recessive 5
Mental Retardation, Autosomal Dominant 22 Mental Retardation, Autosomal Dominant 20
Mental Retardation, Autosomal Recessive 14 Mental Retardation, Autosomal Recessive 16
Mental Retardation, Autosomal Recessive 18 Mental Retardation, Autosomal Dominant 10
Mental Retardation, Autosomal Dominant 11 Mental Retardation, Autosomal Recessive 31
Mental Retardation, Autosomal Recessive 29 Mental Retardation, Autosomal Recessive 27
Mental Retardation, Autosomal Recessive 33 Mental Retardation, Autosomal Recessive 30
Mental Retardation, Autosomal Recessive 19 Mental Retardation, Autosomal Recessive 23
Mental Retardation, Autosomal Recessive 24 Mental Retardation, Autosomal Recessive 25
Mental Retardation, Autosomal Recessive 28 Mental Retardation, Autosomal Dominant 13
Mental Retardation, Autosomal Recessive 35 Mental Retardation, Autosomal Recessive 36
Mental Retardation, Autosomal Recessive 37 Mental Retardation, Autosomal Dominant 21
Mental Retardation, Autosomal Recessive 38 Mental Retardation, Autosomal Recessive 39
Mental Retardation, Autosomal Recessive 40 Mental Retardation, Autosomal Recessive 41
Mental Retardation, Autosomal Dominant 23 Mental Retardation, Autosomal Recessive 42
Mental Retardation, Autosomal Recessive 43 Mental Retardation, Autosomal Dominant 26
Mental Retardation, Autosomal Recessive 44 Mental Retardation, Autosomal Recessive 45
Mental Retardation, Autosomal Dominant 29 Mental Retardation, Autosomal Dominant 30
Mental Retardation, Autosomal Recessive 46 Mental Retardation, Autosomal Dominant 31
Mental Retardation, Autosomal Recessive 47 Mental Retardation, Autosomal Recessive 48
Mental Retardation, Autosomal Dominant 33 Mental Retardation, Autosomal Dominant 34
Mental Retardation, Autosomal Dominant 35 Mental Retardation, Autosomal Dominant 36
Mental Retardation, Autosomal Dominant 38 Mental Retardation, Autosomal Recessive 50
Mental Retardation, Autosomal Dominant 39 Mental Retardation, Autosomal Dominant 40
Mental Retardation, Autosomal Recessive 51 Mental Retardation, Autosomal Recessive 52
Mental Retardation, Autosomal Recessive 53 Mental Retardation, Autosomal Dominant 41
Mental Retardation, Autosomal Dominant 42 Mental Retardation, Autosomal Dominant 43
Mental Retardation, Autosomal Recessive 54 Mental Retardation, Autosomal Recessive 56
Mental Retardation, Autosomal Recessive 57 Mental Retardation, Autosomal Recessive 58
Mental Retardation, Autosomal Recessive 59 Mental Retardation, Autosomal Recessive 60
Mental Retardation, Autosomal Dominant 45 Mental Retardation, Autosomal Dominant 46
Mental Retardation, Autosomal Dominant 47 Mental Retardation, Autosomal Dominant 48
Mental Retardation, Autosomal Recessive 61 Mental Retardation, Autosomal Dominant 50
Mental Retardation, Autosomal Dominant 51 Mental Retardation, Autosomal Dominant 52
Mental Retardation, Autosomal Dominant 53 Mental Retardation, Autosomal Dominant 54
Mental Retardation, Autosomal Dominant 56 Mental Retardation, Autosomal Dominant 57
Mental Retardation, Autosomal Recessive 63 Mental Retardation, Autosomal Recessive 64
Mental Retardation, Autosomal Dominant 58 Mental Retardation, Autosomal Recessive 65
Mental Retardation, Autosomal Recessive 66 Autosomal Dominant Mental Retardation 55

Diseases related to Mental Retardation, Autosomal Dominant 31 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 pura-related neurodevelopmental disorders 11.6

Symptoms & Phenotypes for Mental Retardation, Autosomal Dominant 31

Human phenotypes related to Mental Retardation, Autosomal Dominant 31:

58 31 (show top 50) (show all 122)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 feeding difficulties in infancy 58 31 hallmark (90%) Very frequent (99-80%) HP:0008872
2 respiratory distress 58 31 hallmark (90%) Very frequent (99-80%) HP:0002098
3 seizure 31 hallmark (90%) HP:0001250
4 severe global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0011344
5 myopathic facies 58 31 frequent (33%) Occasional (29-5%),Frequent (79-30%) HP:0002058
6 frontal bossing 58 31 occasional (7.5%) Occasional (29-5%) HP:0002007
7 ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001251
8 high palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000218
9 wide nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0000431
10 dyskinesia 58 31 occasional (7.5%) Frequent (79-30%),Occasional (29-5%) HP:0100660
11 microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000252
12 prominent forehead 58 31 occasional (7.5%) Occasional (29-5%) HP:0011220
13 full cheeks 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0000293
14 anxiety 58 31 occasional (7.5%) Occasional (29-5%) HP:0000739
15 epicanthus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000286
16 myopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000545
17 external ear malformation 58 31 occasional (7.5%) Occasional (29-5%) HP:0008572
18 upslanted palpebral fissure 58 31 occasional (7.5%) Occasional (29-5%) HP:0000582
19 facial asymmetry 58 31 occasional (7.5%) Occasional (29-5%) HP:0000324
20 thin upper lip vermilion 58 31 occasional (7.5%) Occasional (29-5%) HP:0000219
21 long face 58 31 occasional (7.5%) Occasional (29-5%) HP:0000276
22 telecanthus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000506
23 high forehead 58 31 occasional (7.5%) Occasional (29-5%) HP:0000348
24 dystonia 58 31 occasional (7.5%) Frequent (79-30%),Occasional (29-5%) HP:0001332
25 severe muscular hypotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0006829
26 tented upper lip vermilion 58 31 occasional (7.5%) Occasional (29-5%) HP:0010804
27 underdeveloped nasal alae 58 31 occasional (7.5%) Occasional (29-5%) HP:0000430
28 broad-based gait 58 31 occasional (7.5%) Very frequent (99-80%),Occasional (29-5%) HP:0002136
29 broad nasal tip 58 31 occasional (7.5%) Occasional (29-5%) HP:0000455
30 short attention span 58 31 occasional (7.5%) Occasional (29-5%) HP:0000736
31 long palpebral fissure 58 31 occasional (7.5%) Occasional (29-5%) HP:0000637
32 abnormality of primary teeth 58 31 occasional (7.5%) Occasional (29-5%) HP:0006481
33 facial hypotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000297
34 handgrip myotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0012899
35 exaggerated startle response 58 31 occasional (7.5%) Frequent (79-30%),Occasional (29-5%) HP:0002267
36 incisor macrodontia 58 31 occasional (7.5%) Occasional (29-5%) HP:0011081
37 intellectual disability 58 31 Very frequent (99-80%) HP:0001249
38 nystagmus 58 31 Occasional (29-5%) HP:0000639
39 global developmental delay 58 31 Very frequent (99-80%) HP:0001263
40 myoclonus 58 31 Occasional (29-5%) HP:0001336
41 strabismus 58 31 Occasional (29-5%) HP:0000486
42 absent speech 58 31 Very frequent (99-80%) HP:0001344
43 feeding difficulties 58 31 Frequent (79-30%) HP:0011968
44 delayed myelination 58 31 Occasional (29-5%) HP:0012448
45 seizures 58 Frequent (79-30%),Very frequent (99-80%)
46 scoliosis 58 Occasional (29-5%)
47 dysphagia 58 Occasional (29-5%)
48 constipation 58 Frequent (79-30%)
49 hypothermia 58 Frequent (79-30%)
50 recurrent singultus 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
seizures
delayed myelination
hypomyelination
myoclonic jerks
delayed psychomotor development, severe
more
Respiratory:
respiratory insufficiency

Head And Neck Mouth:
open mouth
high-arched palate

Muscle Soft Tissue:
hypotonia, neonatal

Head And Neck Eyes:
nystagmus
strabismus
telecanthus (in some patients)

Head And Neck Face:
prominent forehead
myopathic facies

Abdomen Gastrointestinal:
feeding difficulties

Endocrine Features:
gonadotropin-dependent precocious puberty (1 patient)

Clinical features from OMIM®:

616158 (Updated 05-Apr-2021)

UMLS symptoms related to Mental Retardation, Autosomal Dominant 31:


seizures; myoclonus

Drugs & Therapeutics for Mental Retardation, Autosomal Dominant 31

Search Clinical Trials , NIH Clinical Center for Mental Retardation, Autosomal Dominant 31

Genetic Tests for Mental Retardation, Autosomal Dominant 31

Genetic tests related to Mental Retardation, Autosomal Dominant 31:

# Genetic test Affiliating Genes
1 Mental Retardation, Autosomal Dominant 31 29 PURA

Anatomical Context for Mental Retardation, Autosomal Dominant 31

MalaCards organs/tissues related to Mental Retardation, Autosomal Dominant 31:

40
Eye, Heart, Pituitary, Brain

Publications for Mental Retardation, Autosomal Dominant 31

Articles related to Mental Retardation, Autosomal Dominant 31:

(show all 15)
# Title Authors PMID Year
1
De novo mutations in PURA are associated with hypotonia and developmental delay. 57 6
27148565 2015
2
Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability. 57 6
25342064 2014
3
Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. 57 6
25439098 2014
4
5q31.3 Microdeletion syndrome: clinical and molecular characterization of two further cases. 6 57
23950017 2013
5
A comparison of genomic diagnostics in adults and children with epilepsy and comorbid intellectual disability. 6
32238909 2020
6
PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature. 6
29097605 2018
7
Genomic diagnostics within a medically underserved population: efficacy and implications. 6
28726809 2018
8
Infantile spasms related to a 5q31.2-q31.3 microdeletion including PURA. 6
29619234 2018
9
Expanding the neurodevelopmental phenotype of PURA syndrome. 6
29150892 2018
10
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes. 6
28600779 2017
11
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 6
25741868 2015
12
Large-scale discovery of novel genetic causes of developmental disorders. 57
25533962 2015
13
Puralpha is essential for postnatal brain development and developmentally coupled cellular proliferation as revealed by genetic inactivation in the mouse. 57
12972605 2003
14
Expanding the phenotype of PURA-related neurodevelopmental disorder: a close differential diagnosis of infantile hypotonia with psychomotor retardation and characteristic facies. 61
33229923 2021
15
The phenotype-driven computational analysis yields clinical diagnosis for patients with atypical manifestations of known intellectual disability syndromes. 61
32337850 2020

Variations for Mental Retardation, Autosomal Dominant 31

ClinVar genetic disease variations for Mental Retardation, Autosomal Dominant 31:

6 (show top 50) (show all 149)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PURA NC_000005.10:g.(?_140114162)_(140115170_?)del Deletion Pathogenic 831076 GRCh37: 5:139493747-139494755
GRCh38:
2 PURA NM_005859.5(PURA):c.616A>T (p.Ile206Phe) SNV Pathogenic 189318 rs786204834 GRCh37: 5:139494382-139494382
GRCh38: 5:140114797-140114797
3 PURA NM_005859.5(PURA):c.312del (p.Met104fs) Deletion Pathogenic 645290 rs1581036297 GRCh37: 5:139494078-139494078
GRCh38: 5:140114493-140114493
4 PURA NM_005859.5(PURA):c.119del (p.Gly40fs) Deletion Pathogenic 649228 rs1581036115 GRCh37: 5:139493884-139493884
GRCh38: 5:140114299-140114299
5 PURA NM_005859.5(PURA):c.339C>G (p.Tyr113Ter) SNV Pathogenic 656180 rs1581036318 GRCh37: 5:139494105-139494105
GRCh38: 5:140114520-140114520
6 PURA NM_005859.5(PURA):c.720C>G (p.Tyr240Ter) SNV Pathogenic 959604 GRCh37: 5:139494486-139494486
GRCh38: 5:140114901-140114901
7 PURA NM_005859.5(PURA):c.144del (p.Ala50fs) Deletion Pathogenic 965453 GRCh37: 5:139493910-139493910
GRCh38: 5:140114325-140114325
8 PURA NM_005859.5(PURA):c.148del (p.Ala50fs) Deletion Pathogenic 965454 GRCh37: 5:139493911-139493911
GRCh38: 5:140114326-140114326
9 PURA NM_005859.5(PURA):c.77C>A (p.Ser26Ter) SNV Pathogenic 951036 GRCh37: 5:139493843-139493843
GRCh38: 5:140114258-140114258
10 PURA NM_005859.5(PURA):c.619_625del (p.Asp207fs) Deletion Pathogenic 569862 rs1561793344 GRCh37: 5:139494385-139494391
GRCh38: 5:140114800-140114806
11 PURA NM_005859.5(PURA):c.175C>T (p.Gln59Ter) SNV Pathogenic 582890 rs1561793115 GRCh37: 5:139493941-139493941
GRCh38: 5:140114356-140114356
12 PURA NM_005859.5(PURA):c.724_725GT[1] (p.Phe243fs) Microsatellite Pathogenic 189317 rs786204833 GRCh37: 5:139494490-139494491
GRCh38: 5:140114905-140114906
13 PURA NM_005859.5(PURA):c.494_497dup (p.Phe167fs) Duplication Pathogenic 575389 rs1561793268 GRCh37: 5:139494257-139494258
GRCh38: 5:140114672-140114673
14 PURA NM_005859.5(PURA):c.382dup (p.Gln128fs) Duplication Pathogenic 579296 rs1561793211 GRCh37: 5:139494146-139494147
GRCh38: 5:140114561-140114562
15 PURA NM_005859.5(PURA):c.149_156dup (p.Gly53fs) Duplication Pathogenic 827803 rs1581036164 GRCh37: 5:139493911-139493912
GRCh38: 5:140114326-140114327
16 PURA NM_005859.5(PURA):c.459dup (p.Lys154fs) Duplication Pathogenic 975766 GRCh37: 5:139494224-139494225
GRCh38: 5:140114639-140114640
17 PURA NM_005859.5(PURA):c.178G>T (p.Glu60Ter) SNV Pathogenic 975786 GRCh37: 5:139493944-139493944
GRCh38: 5:140114359-140114359
18 PURA NM_005859.5(PURA):c.534_556dup (p.Gln186fs) Duplication Pathogenic 984632 GRCh37: 5:139494294-139494295
GRCh38: 5:140114709-140114710
19 PURA NM_005859.5(PURA):c.563T>C (p.Ile188Thr) SNV Pathogenic 192334 rs793888527 GRCh37: 5:139494329-139494329
GRCh38: 5:140114744-140114744
20 PURA NM_005859.5(PURA):c.703del (p.Val235fs) Deletion Pathogenic 976451 GRCh37: 5:139494469-139494469
GRCh38: 5:140114884-140114884
21 PURA NM_005859.5(PURA):c.364_365GC[3] (p.Gln123fs) Microsatellite Pathogenic 488583 rs1554129069 GRCh37: 5:139494128-139494129
GRCh38: 5:140114543-140114544
22 PURA NM_005859.5(PURA):c.725dup (p.Phe243fs) Duplication Pathogenic 488584 rs1554129114 GRCh37: 5:139494490-139494491
GRCh38: 5:140114905-140114906
23 PURA NM_005859.5(PURA):c.302_310del (p.Thr101_Ser103del) Deletion Pathogenic 192340 rs793888533 GRCh37: 5:139494067-139494075
GRCh38: 5:140114482-140114490
24 PURA NM_005859.5(PURA):c.487C>T (p.Gln163Ter) SNV Pathogenic 451895 rs1554129091 GRCh37: 5:139494253-139494253
GRCh38: 5:140114668-140114668
25 PURA NM_005859.5(PURA):c.205C>T (p.Gln69Ter) SNV Pathogenic 489041 rs1554129045 GRCh37: 5:139493971-139493971
GRCh38: 5:140114386-140114386
26 PURA NM_005859.5(PURA):c.163C>T (p.Gln55Ter) SNV Pathogenic 426145 rs1085307472 GRCh37: 5:139493929-139493929
GRCh38: 5:140114344-140114344
27 PURA NM_005859.5(PURA):c.640G>T (p.Glu214Ter) SNV Pathogenic 635405 rs1581036558 GRCh37: 5:139494406-139494406
GRCh38: 5:140114821-140114821
28 PURA NM_005859.5(PURA):c.303_304TC[2] (p.Ser103fs) Microsatellite Pathogenic 156404 rs587782992 GRCh37: 5:139494068-139494069
GRCh38: 5:140114483-140114484
29 PURA NM_005859.5(PURA):c.556C>T (p.Gln186Ter) SNV Pathogenic 156405 rs587782993 GRCh37: 5:139494322-139494322
GRCh38: 5:140114737-140114737
30 PURA NM_005859.5(PURA):c.159dup (p.Leu54fs) Duplication Pathogenic 432233 rs1554129040 GRCh37: 5:139493919-139493920
GRCh38: 5:140114334-140114335
31 PURA NM_005859.5(PURA):c.159dup (p.Leu54fs) Duplication Pathogenic 432233 rs1554129040 GRCh37: 5:139493919-139493920
GRCh38: 5:140114334-140114335
32 PURA NM_005859.5(PURA):c.10C>T (p.Arg4Ter) SNV Pathogenic 571407 rs1561792945 GRCh37: 5:139493776-139493776
GRCh38: 5:140114191-140114191
33 PURA NM_005859.5(PURA):c.812_814del (p.Phe271del) Deletion Pathogenic 156403 rs587782991 GRCh37: 5:139494576-139494578
GRCh38: 5:140114991-140114993
34 PURA NM_005859.5(PURA):c.289A>G (p.Lys97Glu) SNV Pathogenic 156406 rs587782994 GRCh37: 5:139494055-139494055
GRCh38: 5:140114470-140114470
35 PURA NM_005859.5(PURA):c.691_693TTC[2] (p.Phe233del) Microsatellite Pathogenic 189319 rs786204835 GRCh37: 5:139494456-139494458
GRCh38: 5:140114871-140114873
36 PURA NM_005859.5(PURA):c.734G>C (p.Arg245Pro) SNV Pathogenic 545025 rs1554129118 GRCh37: 5:139494500-139494500
GRCh38: 5:140114915-140114915
37 PURA NM_005859.5(PURA):c.596G>C (p.Arg199Pro) SNV Likely pathogenic 156413 rs587783001 GRCh37: 5:139494362-139494362
GRCh38: 5:140114777-140114777
38 PURA NM_005859.5(PURA):c.299T>C (p.Leu100Pro) SNV Likely pathogenic 156407 rs587782995 GRCh37: 5:139494065-139494065
GRCh38: 5:140114480-140114480
39 PURA NM_005859.5(PURA):c.-12_25del (p.Met1fs) Deletion Likely pathogenic 974857 GRCh37: 5:139493746-139493782
GRCh38: 5:140114161-140114197
40 PURA NM_005859.5(PURA):c.298_315del (p.Leu100_Ser105del) Deletion Likely pathogenic 976723 GRCh37: 5:139494064-139494081
GRCh38: 5:140114479-140114496
41 PURA NM_005859.5(PURA):c.430A>G (p.Lys144Glu) SNV Likely pathogenic 666300 rs1581036396 GRCh37: 5:139494196-139494196
GRCh38: 5:140114611-140114611
42 PURA NM_005859.5(PURA):c.565G>C (p.Ala189Pro) SNV Likely pathogenic 807477 rs1581036496 GRCh37: 5:139494331-139494331
GRCh38: 5:140114746-140114746
43 PURA NM_005859.5(PURA):c.407_420dup (p.Ala142fs) Duplication Likely pathogenic 623216 rs1561793219 GRCh37: 5:139494168-139494169
GRCh38: 5:140114583-140114584
44 PURA NM_005859.5(PURA):c.511C>G (p.Arg171Gly) SNV Likely pathogenic 496677 rs1554129100 GRCh37: 5:139494277-139494277
GRCh38: 5:140114692-140114692
45 PURA NM_005859.5(PURA):c.449_456del (p.Arg150fs) Deletion Likely pathogenic 802158 rs1581036405 GRCh37: 5:139494214-139494221
GRCh38: 5:140114629-140114636
46 PURA NM_005859.5(PURA):c.614T>C (p.Leu205Pro) SNV Likely pathogenic 802159 rs1581036537 GRCh37: 5:139494380-139494380
GRCh38: 5:140114795-140114795
47 PURA NM_005859.5(PURA):c.50del (p.Ser17fs) Deletion Likely pathogenic 559907 rs1554129008 GRCh37: 5:139493816-139493816
GRCh38: 5:140114231-140114231
48 PURA NM_005859.5(PURA):c.605T>C (p.Leu202Pro) SNV Likely pathogenic 560683 rs1561793336 GRCh37: 5:139494371-139494371
GRCh38: 5:140114786-140114786
49 PURA NM_005859.5(PURA):c.779C>G (p.Pro260Arg) SNV Likely pathogenic 812174 GRCh37: 5:139494545-139494545
GRCh38: 5:140114960-140114960
50 PURA NM_005859.5(PURA):c.710C>T (p.Ser237Phe) SNV Likely pathogenic 266027 rs886039899 GRCh37: 5:139494476-139494476
GRCh38: 5:140114891-140114891

UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation, Autosomal Dominant 31:

72
# Symbol AA change Variation ID SNP ID
1 PURA p.Ala89Pro VAR_072699 rs587782999
2 PURA p.Lys97Glu VAR_072700 rs587782994
3 PURA p.Leu100Pro VAR_072701 rs587782995
4 PURA p.Met157Lys VAR_072702 rs587782998
5 PURA p.Arg199Pro VAR_072703 rs587783001
6 PURA p.Ile206Phe VAR_073993 rs786204834

Expression for Mental Retardation, Autosomal Dominant 31

Search GEO for disease gene expression data for Mental Retardation, Autosomal Dominant 31.

Pathways for Mental Retardation, Autosomal Dominant 31

GO Terms for Mental Retardation, Autosomal Dominant 31

Sources for Mental Retardation, Autosomal Dominant 31

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
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19 FMA
20 GARD
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30 HMDB
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32 ICD10
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45 MESH via Orphanet
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49 NCI
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56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
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