PURA (Q00577) variants and mutations
PURA (also known as Q00577) is a human protein-coding gene encoding a transcriptional activator protein Pur-alpha protein. Its annotated function is this is a probable transcription activator that specifically binds the purine-rich single strand of the PUR element located upstream of the MYC gene. It is annotated at the nucleus. This analysis covers 792 PURA variants and mutations. Of these, 96% have computational variant effect predictions. Disease context includes PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a, Intellectual disability, and PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome. Example PURA variants include M1I, M1L, and M1T.
Variant analysis overview
- Gene: PURA
- Protein: Q00577
- UniProt accession: Q00577
- Organism: Homo sapiens
- Variants analyzed: 792
- Variant scope: all variants
- Completed: 2026-10-13
Variant and mutation evidence
- Variant composition: 352 unspecified-consequence records; 241 missense variants; 193 synonymous variants; 2 stop-gained variants; 10 frameshift variants; 18 in-frame deletions; 6 in-frame insertions; 2 substitution
- Prediction scores: 761 variants have prediction scores (96% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a, Intellectual disability, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, hereditary disease, neurodegenerative disease, Global developmental delay, Neonatal hypotonia, Delayed speech and language development, Seizure, autosomal dominant non-syndromic intellectual disability, complex neurodevelopmental disorder, Parkinson disease.
Protein structure and variant hotspots
- Protein features: 2 post-translational modification sites.
- PTM context: 5 variants overlap post-translational modification sites.
Data sources
Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.
Diseases linked to PURA
Notable PURA variants
Examples include M1I, M1L, M1T, M1V, A2V, A2S, A2E, A2A. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1I (p.Met1Ile), rs2479503494, ClinGen CA361488935, ClinVar RCV003030865, ESM-1b 1.00, AlphaMissense 0.89, Pathogenic, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
- M1L (p.Met1Leu), rs793888530, ClinGen CA090959, ClinVar RCV001380050, ESM-1b 1.00, AlphaMissense 0.39, Pathogenic, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
- M1T (p.Met1Thr), rs2479503492, ClinGen CA361488928, ClinVar RCV003749408, ESM-1b 1.00, AlphaMissense 0.84, Pathogenic, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
- M1V (p.Met1Val), rs793888530, ClinGen CA361488922, ClinVar RCV000579099, ClinVar RCV001783082, ESM-1b 1.00, AlphaMissense 0.29, Pathogenic/Likely pathogenic, not provided; PURA-related severe neonatal hypotonia-seizures-encephalopathy syn
- A2V (p.Ala2Val), Ensembl rs1763034279, REVEL 0.19, ESM-1b 1.00
- A2S (p.Ala2Ser), gnomAD 5-140114185-G-T, REVEL 0.04, ESM-1b 0.00
- A2E (p.Ala2Glu), gnomAD 5-140114186-C-A, REVEL 0.23, ESM-1b 0.18
- A2A (p.Ala2Ala), rs1763034347, gnomAD 5-140114187-G-A, CADD 16.10
- D3N (p.Asp3Asn), gnomAD 5-140114188-G-A, REVEL 0.14, ESM-1b 1.00
- D3Y (p.Asp3Tyr), gnomAD 5-140114188-G-T, REVEL 0.29, ESM-1b 1.00
- D3H (p.Asp3His), gnomAD 5-140114188-G-C, REVEL 0.22, ESM-1b 1.00
- D3G (p.Asp3Gly), gnomAD 5-140114189-A-G, REVEL 0.22, ESM-1b 1.00
- D3D (p.Asp3Asp), gnomAD 5-140114190-C-T, CADD 14.40
- D3E (p.Asp3Glu), gnomAD 5-140114190-C-A, REVEL 0.05, ESM-1b 0.00
- R4* (p.Arg4Ter), rs1561792945, ClinGen CA361488983, ClinVar RCV000692544, ClinVar RCV004760716, CADD 34.00, Pathogenic
- R4P (p.Arg4Pro), Ensembl rs1581035983, REVEL 0.23, ESM-1b 0.00
- R4Q (p.Arg4Gln), Ensembl rs1581035983, REVEL 0.19, ESM-1b 0.00
- R4R (p.Arg4Arg), gnomAD 5-140114191-C-A, CADD 15.10
- R4L (p.Arg4Leu), gnomAD 5-140114192-G-T, REVEL 0.22, ESM-1b 0.00
- D5N (p.Asp5Asn), gnomAD 5-140114194-G-A, REVEL 0.07, ESM-1b 0.22
- D5Y (p.Asp5Tyr), gnomAD 5-140114194-G-T, REVEL 0.15, ESM-1b 1.00
- D5G (p.Asp5Gly), gnomAD 5-140114195-A-G, REVEL 0.21, ESM-1b 0.00
- D5E (p.Asp5Glu), gnomAD 5-140114196-C-A, REVEL 0.12, ESM-1b 0.00
- D5D (p.Asp5Asp), gnomAD 5-140114196-C-T, CADD 15.20
- S6G (p.Ser6Gly), gnomAD 5-140114197-A-G, REVEL 0.13, ESM-1b 0.00
- S6N (p.Ser6Asn), gnomAD 5-140114198-G-A, REVEL 0.21, ESM-1b 0.74
- S6I (p.Ser6Ile), gnomAD 5-140114198-G-T, REVEL 0.22, ESM-1b 1.00
- S6S (p.Ser6Ser), gnomAD 5-140114199-C-T, CADD 16.00
- S6R (p.Ser6Arg), gnomAD 5-140114199-C-A, REVEL 0.16, ESM-1b 0.00
- G7A (p.Gly7Ala), rs2479503541, ClinGen CA2739275107, ClinVar RCV003749397, ESM-1b 0.00, AlphaMissense 0.52, Pathogenic
- G7S (p.Gly7Ser), Ensembl rs2126748516, REVEL 0.36, ESM-1b 0.00
- G7V (p.Gly7Val), gnomAD rs1763034584, REVEL 0.43, ESM-1b 0.00
- G7C (p.Gly7Cys), gnomAD 5-140114200-G-T, REVEL 0.33, ESM-1b 0.25
- G7D (p.Gly7Asp), gnomAD 5-140114201-G-A, REVEL 0.45, ESM-1b 0.00
- G7G (p.Gly7Gly), gnomAD 5-140114202-C-A, CADD 14.70
- S8G (p.Ser8Gly), Ensembl rs1763034632, REVEL 0.37, ESM-1b 0.00
- S8R (p.Ser8Arg), Ensembl rs1763034632, REVEL 0.42, ESM-1b 0.00
- S8I (p.Ser8Ile), gnomAD 5-140114204-G-T, REVEL 0.40, ESM-1b 0.36
- S8N (p.Ser8Asn), gnomAD 5-140114204-G-A, REVEL 0.33, ESM-1b 0.21
- S8S (p.Ser8Ser), rs1763034680, gnomAD 5-140114205-C-T, CADD 16.10
- E9* (p.Glu9Ter), rs2479503553, ClinGen CA361489058, ClinVar RCV003112180, CADD 35.00, Pathogenic
- E9Q (p.Glu9Gln), gnomAD 5-140114206-G-C, REVEL 0.28, ESM-1b 0.00
- E9G (p.Glu9Gly), gnomAD 5-140114207-A-G, REVEL 0.29, ESM-1b 0.00
- E9D (p.Glu9Asp), gnomAD 5-140114208-G-T, REVEL 0.25, ESM-1b 0.00
- E9E (p.Glu9Glu), rs1481319515, gnomAD 5-140114208-G-A, CADD 14.10
- Q10L (p.Gln10Leu), rs1269489196, ClinGen CA361489069, ClinVar RCV003750168, ESM-1b 0.00, AlphaMissense 0.21, Likely benign, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
- Q10P (p.Gln10Pro), TOPMed rs1269489196, ESM-1b 0.00, AlphaMissense 0.11, Likely benign
- Q10K (p.Gln10Lys), gnomAD 5-140114209-C-A, REVEL 0.15, ESM-1b 0.00
- Q10* (p.Gln10Ter), gnomAD 5-140114209-C-T, CADD 35.00
- Q10R (p.Gln10Arg), gnomAD 5-140114210-A-G, REVEL 0.20, ESM-1b 0.00
- Q10Q (p.Gln10Gln), gnomAD 5-140114211-G-A, CADD 14.20
- Q10H (p.Gln10His), gnomAD 5-140114211-G-T, REVEL 0.22, ESM-1b 0.00
- G11C (p.Gly11Cys), gnomAD 5-140114212-G-T, REVEL 0.54, ESM-1b 0.32
- G11S (p.Gly11Ser), gnomAD 5-140114212-G-A, REVEL 0.35, ESM-1b 0.00
- G11V (p.Gly11Val), gnomAD 5-140114213-G-T, REVEL 0.52, ESM-1b 0.00
- G11D (p.Gly11Asp), gnomAD 5-140114213-G-A, REVEL 0.41, ESM-1b 0.00
- G11G (p.Gly11Gly), gnomAD 5-140114214-T-C, CADD 15.90
- G12A (p.Gly12Ala), ExAC rs748308755, TOPMed rs748308755, gnomAD rs748308755, REVEL 0.25, ESM-1b 0.00
- G12C (p.Gly12Cys), rs2126748529, ClinGen CA361489080, ClinVar RCV001774674, ClinVar RCV002540603, REVEL 0.46, ESM-1b 0.74, Uncertain significance, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome; not pro
- G12V (p.Gly12Val), gnomAD 5-140114214-TG-T, CADD 24.80
- G12G (p.Gly12Gly), gnomAD 5-140114217-T-C, CADD 16.00
- A13V (p.Ala13Val), rs533257824, ClinGen CA128789387, ClinVar RCV003053503, 1000Genomes rs533257824, REVEL 0.13, ESM-1b 0.00, Uncertain significance, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
- A13S (p.Ala13Ser), gnomAD 5-140114218-G-T, REVEL 0.15, ESM-1b 0.00
- A13E (p.Ala13Glu), gnomAD 5-140114219-C-A, REVEL 0.22, ESM-1b 0.00
- A13A (p.Ala13Ala), gnomAD 5-140114220-G-T, CADD 14.20
- A14E (p.Ala14Glu), TOPMed rs1282141695, gnomAD rs1282141695, REVEL 0.18, ESM-1b 0.00, Likely benign
- A14P (p.Ala14Pro), rs1046152089, ClinGen CA128789388, ClinVar RCV000691588, ClinVar RCV002317918, REVEL 0.20, ESM-1b 0.00, Conflicting interpretations, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome; PURA-re
- A14T (p.Ala14Thr), 1000Genomes rs1046152089, TOPMed rs1046152089, gnomAD rs1046152089, REVEL 0.10, ESM-1b 0.00, Benign
- A14V (p.Ala14Val), rs1282141695, ClinGen CA361489092, ClinVar RCV002308742, TOPMed rs1282141695, REVEL 0.14, ESM-1b 0.00, Likely benign, not provided
- A14S (p.Ala14Ser), gnomAD 5-140114221-G-T, REVEL 0.11, ESM-1b 0.00
- A14G (p.Ala14Gly), gnomAD 5-140114222-C-G, REVEL 0.04, ESM-1b 0.00
- A14A (p.Ala14Ala), rs1350220385, gnomAD 5-140114223-G-A, CADD 14.60
- L15M (p.Leu15Met), rs923665124, ClinGen CA361489093, ClinVar RCV000685099, TOPMed rs923665124, REVEL 0.17, ESM-1b 0.00, Uncertain significance, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
- L15P (p.Leu15Pro), rs2126748545, ClinGen CA361489095, ClinVar RCV002263391, Ensembl rs2126748545, ESM-1b 0.00, AlphaMissense 0.08, Uncertain significance, not provided
- L15V (p.Leu15Val), rs923665124, ClinGen CA128789389, ClinVar RCV002304078, TOPMed rs923665124, REVEL 0.16, ESM-1b 0.00, Uncertain significance, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
- L15L (p.Leu15Leu), gnomAD 5-140114226-G-A, CADD 13.70
- G16A (p.Gly16Ala), TOPMed rs1225708436, gnomAD rs1225708436, REVEL 0.38, ESM-1b 0.00
- G16V (p.Gly16Val), gnomAD 5-140114225-TG-T, CADD 23.80
- G16C (p.Gly16Cys), gnomAD 5-140114227-G-T, REVEL 0.43, ESM-1b 0.59
- G16S (p.Gly16Ser), gnomAD 5-140114227-G-A, REVEL 0.35, ESM-1b 0.00
- G16G (p.Gly16Gly), rs1763035383, gnomAD 5-140114229-T-G, CADD 15.90
- S17* (p.Ser17Ter), rs1346561117, ClinGen CA361489106, ClinVar RCV002052108, gnomAD rs1346561117, CADD 33.00, Likely pathogenic
- S17L (p.Ser17Leu), rs1346561117, ClinGen CA361489107, ClinVar RCV003821311, gnomAD rs1346561117, REVEL 0.19, ESM-1b 0.00, Likely benign, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
- S17T (p.Ser17Thr), gnomAD 5-140114230-T-A, REVEL 0.20, ESM-1b 0.00
- S17P (p.Ser17Pro), gnomAD 5-140114230-T-C, REVEL 0.23, ESM-1b 0.00
- S17S (p.Ser17Ser), rs1345518698, gnomAD 5-140114232-G-C, CADD 13.40
- G18C (p.Gly18Cys), gnomAD 5-140114233-G-T, REVEL 0.44, ESM-1b 0.46
- G18A (p.Gly18Ala), gnomAD 5-140114234-G-C, REVEL 0.34, ESM-1b 0.00
- G18D (p.Gly18Asp), gnomAD 5-140114234-G-A, REVEL 0.36, ESM-1b 0.74
- G18G (p.Gly18Gly), gnomAD 5-140114235-C-A, CADD 14.90
- G19S (p.Gly19Ser), rs2126748559, ClinGen CA361489115, ClinVar RCV001887076, Ensembl rs2126748559, REVEL 0.37, ESM-1b 0.00, Uncertain significance, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
- G19C (p.Gly19Cys), gnomAD 5-140114236-G-T, REVEL 0.43, ESM-1b 0.55
- G19A (p.Gly19Ala), gnomAD 5-140114237-G-C, REVEL 0.29, ESM-1b 0.00
- G19V (p.Gly19Val), gnomAD 5-140114237-G-T, REVEL 0.38, ESM-1b 0.00
- G19D (p.Gly19Asp), gnomAD 5-140114237-G-A, REVEL 0.36, ESM-1b 0.36
- G19G (p.Gly19Gly), gnomAD 5-140114238-C-A, CADD 14.90
- S20F (p.Ser20Phe), TOPMed rs1210044420, gnomAD rs1210044420, REVEL 0.17, ESM-1b 0.36
- S20P (p.Ser20Pro), rs1763035593, ClinGen CA361489126, ClinVar RCV001212518, Ensembl rs1763035593, REVEL 0.21, ESM-1b 0.00, Likely benign, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
- S20Y (p.Ser20Tyr), TOPMed rs1210044420, gnomAD rs1210044420, REVEL 0.18, ESM-1b 0.68
- S20S (p.Ser20Ser), gnomAD 5-140114241-C-T, CADD 15.00
- L21R (p.Leu21Arg), rs2479503825, ClinGen CA1139532823, ClinVar RCV002472251, ESM-1b 0.00, AlphaMissense 0.11, Pathogenic
- L21L (p.Leu21Leu), rs1437420883, gnomAD 5-140114242-C-T, CADD 14.30
- L21V (p.Leu21Val), gnomAD 5-140114242-C-G, REVEL 0.17, ESM-1b 0.00
- L21M (p.Leu21Met), gnomAD 5-140114242-C-A, REVEL 0.20, ESM-1b 0.00
- L21Q (p.Leu21Gln), gnomAD 5-140114243-T-A, REVEL 0.23, ESM-1b 0.00
- L21P (p.Leu21Pro), gnomAD 5-140114243-T-C, REVEL 0.19, ESM-1b 0.00
- G22E (p.Gly22Glu), rs2126748571, ClinGen CA361489156, ClinVar RCV001915727, Ensembl rs2126748571, REVEL 0.26, ESM-1b 0.00, Uncertain significance, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
- G22R (p.Gly22Arg), gnomAD rs1763035899, REVEL 0.15, ESM-1b 0.00
- G22V (p.Gly22Val), gnomAD 5-140114246-G-T, REVEL 0.22, ESM-1b 0.00
- G22G (p.Gly22Gly), gnomAD 5-140114247-G-A, CADD 15.00
- H23R (p.His23Arg), rs1319701255, ClinGen CA361489174, ClinVar RCV002148319, gnomAD rs1319701255, REVEL 0.20, ESM-1b 0.00, Likely benign, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
- H23Y (p.His23Tyr), gnomAD rs1179950432, REVEL 0.20, ESM-1b 0.00
- H23T (p.His23Thr), rs1581036051, gnomAD 5-140114243-TG-T, CADD 24.00
- p.His23 Gly29delinsArg, gnomAD 5-140114248-CACCC, CADD 20.00
- H23N (p.His23Asn), gnomAD 5-140114248-C-A, REVEL 0.16, ESM-1b 0.00
- H23L (p.His23Leu), gnomAD 5-140114249-A-T, REVEL 0.24, ESM-1b 0.00
- H23H (p.His23His), gnomAD 5-140114250-C-T, CADD 14.00
- P24A (p.Pro24Ala), rs1064795164, ClinGen CA16618120, ClinVar RCV000479966, Ensembl rs1064795164, ESM-1b 0.00, AlphaMissense 0.05, Likely pathogenic, not provided
- P24S (p.Pro24Ser), rs1064795164, ClinGen CA361489186, ClinVar RCV001040096, Ensembl rs1064795164, REVEL 0.16, ESM-1b 0.00, Likely benign, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
- P24H (p.Pro24His), gnomAD 5-140114252-C-A, REVEL 0.15, ESM-1b 0.00
- P24L (p.Pro24Leu), gnomAD 5-140114252-C-T, REVEL 0.17, ESM-1b 0.00
- P24P (p.Pro24Pro), rs1763036127, gnomAD 5-140114253-C-G, CADD 13.70
- G25S (p.Gly25Ser), rs1561792992, ClinGen CA361489200, ClinVar RCV002314587, ClinVar RCV002534552, REVEL 0.16, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases; PURA-related severe neonatal hypotonia-seizures-encepha
- G25V (p.Gly25Val), Ensembl rs1400853027, REVEL 0.32, ESM-1b 0.93
- G25C (p.Gly25Cys), gnomAD 5-140114254-G-T, REVEL 0.36, ESM-1b 1.00
- G25R (p.Gly25Arg), gnomAD 5-140114254-G-C, REVEL 0.29, ESM-1b 1.00
- G25A (p.Gly25Ala), gnomAD 5-140114255-G-C, REVEL 0.21, ESM-1b 0.00
- G25G (p.Gly25Gly), gnomAD 5-140114256-C-A, CADD 14.90
- S26* (p.Ser26Ter), rs1763036339, ClinGen CA361489218, ClinVar RCV001222865, Ensembl rs1763036339, CADD 34.00, Pathogenic
- S26L (p.Ser26Leu), rs1763036339, ClinGen CA361489222, ClinVar RCV001907045, Ensembl rs1763036339, REVEL 0.14, ESM-1b 0.00, Uncertain significance, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
- S26P (p.Ser26Pro), gnomAD rs1383754842, REVEL 0.21, ESM-1b 0.00
- S26W (p.Ser26Trp), gnomAD 5-140114258-C-G, REVEL 0.33, ESM-1b 1.00
- S26S (p.Ser26Ser), rs1156498095, gnomAD 5-140114259-G-A, CADD 14.40
- G27R (p.Gly27Arg), rs1470806491, ClinGen CA361489225, ClinVar RCV001867801, ClinVar RCV004782806, REVEL 0.34, ESM-1b 1.00, Uncertain significance, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome; not spe
- G27D (p.Gly27Asp), gnomAD 5-140114261-G-A, REVEL 0.25, ESM-1b 1.00
- G27A (p.Gly27Ala), gnomAD 5-140114261-G-C, REVEL 0.23, ESM-1b 0.51
- G27G (p.Gly27Gly), gnomAD 5-140114262-C-A, CADD 14.60
- S28* (p.Ser28Ter), rs2479503963, ClinGen CA361489248, ClinVar RCV003325344, CADD 34.00, Likely pathogenic
- S28P (p.Ser28Pro), rs1554129019, ClinGen CA361489238, ClinVar RCV000623948, ClinVar RCV002491336, REVEL 0.20, ESM-1b 0.00, Uncertain significance, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome; Inborn
- S28L (p.Ser28Leu), gnomAD 5-140114264-C-T, REVEL 0.18, ESM-1b 0.00
- S28S (p.Ser28Ser), rs551701773, gnomAD 5-140114265-A-G, CADD 13.30
- G29C (p.Gly29Cys), gnomAD 5-140114266-G-T, REVEL 0.36, ESM-1b 1.00
- G29D (p.Gly29Asp), gnomAD 5-140114267-G-A, REVEL 0.29, ESM-1b 1.00
- G29G (p.Gly29Gly), gnomAD 5-140114268-C-A, CADD 13.50
- p.Ser30 Gly31del, gnomAD 5-140114259-GGGCT, CADD 19.70
- S30Y (p.Ser30Tyr), gnomAD 5-140114270-C-A, REVEL 0.22, ESM-1b 1.00
- S30S (p.Ser30Ser), rs1763036542, gnomAD 5-140114271-C-T, CADD 14.30
- G31S (p.Gly31Ser), rs2479503999, ClinGen CA361489262, ClinVar RCV002301336, ESM-1b 0.24, AlphaMissense 0.09, Likely benign, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
- G31C (p.Gly31Cys), gnomAD 5-140114272-G-T, REVEL 0.42, ESM-1b 1.00
- G31D (p.Gly31Asp), gnomAD 5-140114273-G-A, REVEL 0.38, ESM-1b 1.00
- G31G (p.Gly31Gly), gnomAD 5-140114274-C-T, CADD 11.60
- G32A (p.Gly32Ala), Ensembl rs1763036724, ESM-1b 0.39, AlphaMissense 0.09
- G32W (p.Gly32Trp), Ensembl rs1763036665, REVEL 0.43, ESM-1b 1.00
- p.Gly32 Gly42del, gnomAD 5-140114270-CCGGC, CADD 20.30
- G32R (p.Gly32Arg), gnomAD 5-140114275-G-A, REVEL 0.41, ESM-1b 1.00
- G32E (p.Gly32Glu), gnomAD 5-140114276-G-A, REVEL 0.46, ESM-1b 1.00
- G32G (p.Gly32Gly), gnomAD 5-140114277-G-T, CADD 11.70
- G33A (p.Gly33Ala), gnomAD 5-140114274-CG-C, CADD 22.60
- G33G (p.Gly33Gly), rs2126748624, gnomAD 5-140114280-C-T, CADD 14.90
- G34R (p.Gly34Arg), rs1581036073, ClinGen CA2580072958, ClinVar RCV002285247, ESM-1b 1.00, AlphaMissense 0.34, Pathogenic
- G34S (p.Gly34Ser), rs1763036938, ClinGen CA361489280, ClinVar RCV001314027, ClinVar RCV004692471, REVEL 0.23, ESM-1b 0.24, Conflicting interpretations, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome; not pro
- p.Gly34 Gly42del, gnomAD 5-140114270-CCGGC, CADD 20.30
- G34D (p.Gly34Asp), gnomAD 5-140114282-G-A, REVEL 0.32, ESM-1b 1.00
- G34V (p.Gly34Val), gnomAD 5-140114282-G-T, REVEL 0.39, ESM-1b 1.00
- G34G (p.Gly34Gly), rs1446546980, gnomAD 5-140114283-T-G, CADD 15.50
- p.Gly35 Gly42del, gnomAD 5-140114277-GGGCG, CADD 20.40
- G35S (p.Gly35Ser), gnomAD 5-140114284-G-A, REVEL 0.25, ESM-1b 0.53
- G35D (p.Gly35Asp), gnomAD 5-140114285-G-A, REVEL 0.31, ESM-1b 1.00
- G35G (p.Gly35Gly), rs1282359377, gnomAD 5-140114286-T-G, CADD 16.00
- p.Gly36 Gly49del, gnomAD 5-140114277-GGGCG, CADD 19.90
- G36C (p.Gly36Cys), gnomAD 5-140114287-G-T, REVEL 0.41, ESM-1b 1.00
- G36S (p.Gly36Ser), gnomAD 5-140114287-G-A, REVEL 0.23, ESM-1b 0.60
- G36R (p.Gly36Arg), gnomAD 5-140114287-G-C, REVEL 0.45, ESM-1b 1.00
- G36D (p.Gly36Asp), gnomAD 5-140114288-G-A, REVEL 0.39, ESM-1b 1.00
- G36G (p.Gly36Gly), gnomAD 5-140114289-C-A, CADD 14.90
- G37A (p.Gly37Ala), rs1430796646, ClinGen CA361489327, ClinVar RCV000693552, ClinVar RCV001771960, REVEL 0.25, ESM-1b 1.00, Conflicting interpretations, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome; not pro
- G37C (p.Gly37Cys), rs1763037641, ClinGen CA361489320, ClinVar RCV001305049, Ensembl rs1763037641, REVEL 0.46, ESM-1b 1.00, Uncertain significance, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
- p.Gly37 Gly42del, rs1184201512, gnomAD 5-140114270-CCGGC, CADD 20.40
- G37S (p.Gly37Ser), gnomAD 5-140114290-G-A, REVEL 0.36, ESM-1b 0.60
- G37D (p.Gly37Asp), gnomAD 5-140114291-G-A, REVEL 0.34, ESM-1b 1.00
Public PURA analysis runs
- PURA analysis run — PURA (792 variants) — completed 2026-10-13