DNM1 (Dynamin-1) variants and mutations
DNM1 (also known as Dynamin-1) is a human protein-coding gene encoding a dynamin-1 protein. It drives membrane fission during synaptic-vesicle endocytosis, allowing rapid recycling of vesicles after neurotransmitter release. De novo pathogenic variants can cause severe developmental and epileptic encephalopathy with profound developmental impairment. This analysis covers 1,076 DNM1 variants and mutations. Of these, 77% have computational variant effect predictions. Disease context includes Lennox-Gastaut syndrome, developmental and epileptic encephalopathy, 31A, and developmental and epileptic encephalopathy, 31B. Example DNM1 variants include M1I, M1T, and G2D.
Variant analysis overview
- Gene: DNM1
- Protein: Dynamin-1
- UniProt accession: Q05193
- Organism: Homo sapiens
- Variants analyzed: 1076
- Variant scope: all variants
- Completed: 2026-08-21
Variant and mutation evidence
- Variant composition: 801 unspecified-consequence records; 172 missense variants; 84 synonymous variants; 7 stop-gained variants; 8 frameshift variants; 1 in-frame deletions; 3 splice-region variants; 1 in-frame insertions
- Prediction scores: 828 variants have prediction scores (77% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: Lennox-Gastaut syndrome, developmental and epileptic encephalopathy, 31A, developmental and epileptic encephalopathy, 31B, hereditary disease, Epileptic encephalopathy, genetic developmental and epileptic encephalopathy, developmental and epileptic encephalopathy, undetermined early-onset epileptic encephalopathy, insomnia, infantile spasms, Seizure, epilepsy.
Protein structure and variant hotspots
- Protein features: 3 domains; 13 binding sites; 13 post-translational modification sites.
- Structural context: 577 variants have structural context.
- PTM context: 13 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.
Notable DNM1 variants
Examples include M1I, M1T, G2D, G2S, G2C, G2V, G2A, G2G. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1I (p.Met1Ile), rs1401701364, ClinGen CA375006149, ClinVar RCV001442440, MetaLR 0.85, MetaSVM 0.46, Likely benign, Developmental and epileptic encephalopathy, 31A
- M1T (p.Met1Thr), rs1588293610, ClinGen CA375006141, ClinVar RCV003754361, MetaLR 0.86, MetaSVM 0.47, Uncertain significance, Developmental and epileptic encephalopathy, 31A
- G2D (p.Gly2Asp), gnomAD rs1833612324, REVEL 0.76, CADD 29.40
- G2S (p.Gly2Ser), gnomAD 9-128203474-G-A, REVEL 0.63, CADD 29.90
- G2C (p.Gly2Cys), gnomAD 9-128203474-G-T, REVEL 0.83, CADD 32.00
- G2V (p.Gly2Val), gnomAD 9-128203475-G-T, REVEL 0.76, CADD 29.20
- G2A (p.Gly2Ala), gnomAD 9-128203475-G-C, REVEL 0.56, CADD 25.20
- G2G (p.Gly2Gly), gnomAD 9-128203476-C-G, CADD 14.90
- N3D (p.Asn3Asp), gnomAD 9-128203477-A-G, REVEL 0.61, CADD 28.20
- N3S (p.Asn3Ser), gnomAD 9-128203478-A-G, REVEL 0.71, CADD 25.80
- N3T (p.Asn3Thr), gnomAD 9-128203478-A-C, REVEL 0.77, CADD 27.50
- N3K (p.Asn3Lys), gnomAD 9-128203479-C-A, REVEL 0.74, CADD 25.90
- N3N (p.Asn3Asn), gnomAD 9-128203479-C-T, CADD 15.00
- R4C (p.Arg4Cys), Ensembl rs986129698, REVEL 0.68, CADD 30.00
- R4G (p.Arg4Gly), Ensembl rs986129698
- R4H (p.Arg4His), rs1833612913, ClinGen CA375006181, ClinVar RCV003753808, TOPMed rs1833612913, REVEL 0.55, CADD 25.50, Uncertain significance, Developmental and epileptic encephalopathy, 31A
- R4S (p.Arg4Ser), gnomAD 9-128203480-C-A, REVEL 0.53, CADD 23.10
- R4L (p.Arg4Leu), gnomAD 9-128203481-G-T, REVEL 0.65, CADD 25.10
- R4R (p.Arg4Arg), gnomAD 9-128203482-C-A, CADD 14.10
- G5S (p.Gly5Ser), rs759483040, ClinGen CA5257717, ClinVar RCV001902757, ExAC rs759483040, REVEL 0.76, CADD 25.90, Uncertain significance, Developmental and epileptic encephalopathy, 31A
- G5V (p.Gly5Val), rs1833613277, ClinGen CA375006199, ClinVar RCV002877873, TOPMed rs1833613277, REVEL 0.87, CADD 29.90, Uncertain significance, Inborn genetic diseases
- G5C (p.Gly5Cys), gnomAD 9-128203483-G-T, REVEL 0.85, CADD 32.00
- G5D (p.Gly5Asp), gnomAD 9-128203484-G-A, REVEL 0.83, CADD 31.00
- G5G (p.Gly5Gly), gnomAD 9-128203485-C-A, CADD 14.80
- M6V (p.Met6Val), gnomAD 9-128203486-A-G, REVEL 0.81, CADD 23.60
- M6T (p.Met6Thr), gnomAD 9-128203487-T-C, REVEL 0.70, CADD 24.40
- M6I (p.Met6Ile), gnomAD 9-128203488-G-A, REVEL 0.69, CADD 24.60
- E7D (p.Glu7Asp), ExAC rs769986411, gnomAD rs769986411, REVEL 0.39, CADD 18.10
- E7Q (p.Glu7Gln), gnomAD 9-128203489-G-C, REVEL 0.48, CADD 23.40
- E7* (p.Glu7Ter), gnomAD 9-128203489-G-T, CADD 40.00
- E7K (p.Glu7Lys), gnomAD 9-128203489-G-A, REVEL 0.75, CADD 26.30
- E7G (p.Glu7Gly), gnomAD 9-128203490-A-G, REVEL 0.68, CADD 32.00
- E7E (p.Glu7Glu), rs769986411, gnomAD 9-128203491-A-G, CADD 13.40
- D8E (p.Asp8Glu), gnomAD rs1161899413, REVEL 0.29, CADD 18.30
- D8H (p.Asp8His), gnomAD rs1444303998, REVEL 0.48, CADD 29.60
- D8N (p.Asp8Asn), gnomAD rs1444303998, REVEL 0.35, CADD 24.40
- D8Y (p.Asp8Tyr), gnomAD 9-128203492-G-T, REVEL 0.70, CADD 32.00
- D8G (p.Asp8Gly), gnomAD 9-128203493-A-G, REVEL 0.47, CADD 25.60
- D8D (p.Asp8Asp), rs1161899413, gnomAD 9-128203494-T-C, CADD 14.70
- L9F (p.Leu9Phe), gnomAD 9-128203495-C-T, REVEL 0.78, CADD 26.10
- L9I (p.Leu9Ile), gnomAD 9-128203495-C-A, REVEL 0.71, CADD 25.30
- L9P (p.Leu9Pro), gnomAD 9-128203496-T-C, REVEL 0.93, CADD 31.00
- L9H (p.Leu9His), gnomAD 9-128203496-T-A, REVEL 0.91, CADD 29.80
- L9L (p.Leu9Leu), gnomAD 9-128203497-C-T, CADD 14.60
- I10L (p.Ile10Leu), Ensembl rs2131060888, REVEL 0.77, CADD 24.90
- I10V (p.Ile10Val), gnomAD 9-128203498-A-G, REVEL 0.76, CADD 25.50
- I10T (p.Ile10Thr), gnomAD 9-128203499-T-C, REVEL 0.94, CADD 29.60
- I10I (p.Ile10Ile), gnomAD 9-128203500-C-T, CADD 15.50
- P11Q (p.Pro11Gln), ExAC rs775423550, gnomAD rs775423550, REVEL 0.78, CADD 27.00
- P11R (p.Pro11Arg), ExAC rs775423550, gnomAD rs775423550, REVEL 0.83, CADD 27.10
- P11A (p.Pro11Ala), gnomAD 9-128203501-C-G, REVEL 0.71, CADD 23.50
- P11S (p.Pro11Ser), gnomAD 9-128203501-C-T, REVEL 0.71, CADD 24.10
- P11T (p.Pro11Thr), gnomAD 9-128203501-C-A, REVEL 0.72, CADD 23.60
- P11L (p.Pro11Leu), gnomAD 9-128203502-C-T, REVEL 0.82, CADD 27.20
- P11P (p.Pro11Pro), rs1157955248, gnomAD 9-128203503-G-A, CADD 15.40
- L12M (p.Leu12Met), rs2538912418, ClinGen CA2739265044, ClinVar RCV003753803, REVEL 0.60, CADD 26.10, Uncertain significance, Developmental and epileptic encephalopathy, 31A
- L12L (p.Leu12Leu), gnomAD 9-128203504-C-T, CADD 15.10
- L12P (p.Leu12Pro), gnomAD 9-128203505-T-C, REVEL 0.90, CADD 32.00
- V13A (p.Val13Ala), rs969698049, ClinGen CA200334489, ClinVar RCV002013560, TOPMed rs969698049, REVEL 0.74, CADD 31.00, Uncertain significance, Developmental and epileptic encephalopathy, 31A
- V13S (p.Val13Ser), gnomAD 9-128203505-TG-T, CADD 27.50
- V13F (p.Val13Phe), gnomAD 9-128203507-G-T, REVEL 0.92, CADD 31.00
- V13L (p.Val13Leu), gnomAD 9-128203507-G-C, REVEL 0.82, CADD 28.20
- V13I (p.Val13Ile), gnomAD 9-128203507-G-A, REVEL 0.49, CADD 24.40
- V13V (p.Val13Val), gnomAD 9-128203509-C-A, CADD 13.20
- N14D (p.Asn14Asp), gnomAD 9-128203510-A-G, REVEL 0.87, CADD 26.90
- N14S (p.Asn14Ser), gnomAD 9-128203511-A-G, REVEL 0.71, CADD 23.90
- N14N (p.Asn14Asn), gnomAD 9-128203512-C-T, CADD 14.50
- N14K (p.Asn14Lys), gnomAD 9-128203512-C-A, REVEL 0.84, CADD 25.00
- R15G (p.Arg15Gly), rs1320569379, ClinGen CA375006324, ClinVar RCV001992362, gnomAD rs1320569379, AlphaMissense 0.78, MetaLR 0.82, Uncertain significance, Developmental and epileptic encephalopathy, 31A
- R15Q (p.Arg15Gln), rs763288862, ClinGen CA5257720, ClinVar RCV000545352, ClinVar RCV003320688, REVEL 0.46, CADD 24.80, Conflicting interpretations, Developmental and epileptic encephalopathy, 31A; not provided
- R15W (p.Arg15Trp), gnomAD 9-128203513-C-T, REVEL 0.72, CADD 28.50
- R15R (p.Arg15Arg), rs1320569379, gnomAD 9-128203513-C-A, AlphaMissense 0.78, MetaLR 0.82
- R15L (p.Arg15Leu), gnomAD 9-128203514-G-T, REVEL 0.58, CADD 24.80
- L16M (p.Leu16Met), rs61757224, ClinGen CA5257721, ClinVar RCV000435986, ClinVar RCV000533789, REVEL 0.52, CADD 22.20, Benign, Developmental and epileptic encephalopathy, 31A; not specified; Inborn genetic d
- L16L (p.Leu16Leu), gnomAD 9-128203516-C-T, CADD 13.80
- L16P (p.Leu16Pro), gnomAD 9-128203517-T-C, REVEL 0.85, CADD 30.00
- Q17K (p.Gln17Lys), gnomAD 9-128203519-C-A, REVEL 0.81, CADD 24.00
- Q17* (p.Gln17Ter), gnomAD 9-128203519-C-T, CADD 37.00
- Q17R (p.Gln17Arg), gnomAD 9-128203520-A-G, REVEL 0.82, CADD 24.10
- Q17H (p.Gln17His), gnomAD 9-128203521-A-T, REVEL 0.77, CADD 25.00
- Q17Q (p.Gln17Gln), gnomAD 9-128203521-A-G, CADD 14.10
- D18T (p.Asp18Thr), gnomAD 9-128203519-CA-C, CADD 26.90
- D18N (p.Asp18Asn), gnomAD 9-128203522-G-A, REVEL 0.65, CADD 29.10
- D18Y (p.Asp18Tyr), gnomAD 9-128203522-G-T, REVEL 0.83, CADD 31.00
- D18G (p.Asp18Gly), gnomAD 9-128203523-A-G, REVEL 0.85, CADD 27.30
- D18E (p.Asp18Glu), gnomAD 9-128203524-C-A, REVEL 0.65, CADD 18.80
- D18D (p.Asp18Asp), rs2131061036, gnomAD 9-128203524-C-T, CADD 11.00
- A19S (p.Ala19Ser), rs1131691398, ClinGen CA375006374, ClinVar RCV000493106, gnomAD rs1131691398, REVEL 0.81, CADD 26.20, Uncertain significance, not provided
- A19T (p.Ala19Thr), gnomAD 9-128203525-G-A, REVEL 0.71, CADD 24.70
- A19P (p.Ala19Pro), gnomAD 9-128203525-G-C, REVEL 0.88, CADD 29.00
- A19V (p.Ala19Val), gnomAD 9-128203526-C-T, REVEL 0.67, CADD 22.20
- A19D (p.Ala19Asp), gnomAD 9-128203526-C-A, REVEL 0.88, CADD 25.70
- A19A (p.Ala19Ala), rs1477637279, gnomAD 9-128203527-C-G, CADD 15.80
- F20L (p.Phe20Leu), TOPMed rs1833616874, REVEL 0.82, CADD 25.10
- F20S (p.Phe20Ser), gnomAD 9-128203527-CT-C, CADD 26.70
- F20F (p.Phe20Phe), rs1833616874, gnomAD 9-128203530-C-T, CADD 15.70
- S21P (p.Ser21Pro), gnomAD 9-128203531-T-C, REVEL 0.62, CADD 24.10
- S21C (p.Ser21Cys), gnomAD 9-128203532-C-G, REVEL 0.62, CADD 24.20
- S21F (p.Ser21Phe), gnomAD 9-128203532-C-T, REVEL 0.64, CADD 24.60
- S21Y (p.Ser21Tyr), gnomAD 9-128203532-C-A, REVEL 0.59, CADD 23.00
- S21S (p.Ser21Ser), gnomAD 9-128203533-T-C, CADD 12.90
- A22V (p.Ala22Val), gnomAD rs1245923175, REVEL 0.47, CADD 24.40
- A22T (p.Ala22Thr), gnomAD 9-128203534-G-A, REVEL 0.30, CADD 22.70
- A22S (p.Ala22Ser), gnomAD 9-128203534-G-T, REVEL 0.27, CADD 20.10
- A22D (p.Ala22Asp), gnomAD 9-128203535-C-A, REVEL 0.46, CADD 23.10
- A22A (p.Ala22Ala), gnomAD 9-128203536-C-A, CADD 15.80
- I23V (p.Ile23Val), gnomAD 9-128203537-A-G, REVEL 0.48, CADD 23.70
- I23L (p.Ile23Leu), gnomAD 9-128203537-A-C, REVEL 0.51, CADD 24.10
- I23T (p.Ile23Thr), gnomAD 9-128203538-T-C, REVEL 0.83, CADD 25.50
- I23I (p.Ile23Ile), gnomAD 9-128203539-C-A, CADD 16.00
- G24C (p.Gly24Cys), gnomAD rs1833617464, REVEL 0.91, CADD 32.00
- G24S (p.Gly24Ser), gnomAD 9-128203540-G-A, REVEL 0.84, CADD 28.70
- G24V (p.Gly24Val), gnomAD 9-128203541-G-T, REVEL 0.92, CADD 28.60
- G24D (p.Gly24Asp), gnomAD 9-128203541-G-A, REVEL 0.88, CADD 28.80
- G24A (p.Gly24Ala), gnomAD 9-128203541-G-C, REVEL 0.87, CADD 24.40
- G24G (p.Gly24Gly), gnomAD 9-128203542-C-A, CADD 14.60
- Q25* (p.Gln25Ter), gnomAD 9-128203543-C-T, CADD 37.00
- Q25K (p.Gln25Lys), gnomAD 9-128203543-C-A, REVEL 0.55, CADD 22.00
- Q25R (p.Gln25Arg), gnomAD 9-128203544-A-G, REVEL 0.63, CADD 22.80
- Q25H (p.Gln25His), gnomAD 9-128203545-G-T, REVEL 0.48, CADD 22.50
- N26S (p.Asn26Ser), gnomAD 9-128203547-A-G, REVEL 0.29, CADD 19.50
- N26K (p.Asn26Lys), gnomAD 9-128203548-C-A, REVEL 0.35, CADD 17.80
- N26N (p.Asn26Asn), rs1327616821, gnomAD 9-128203548-C-T, CADD 13.10
- A27S (p.Ala27Ser), gnomAD rs1211113169, REVEL 0.29, CADD 22.20
- A27T (p.Ala27Thr), NCI-TCGA TCGA novel, REVEL 0.29, CADD 22.90, Variant assessed as somatic; moderate impact.
- A27E (p.Ala27Glu), gnomAD 9-128203550-C-A, REVEL 0.35, CADD 22.80
- A27V (p.Ala27Val), gnomAD 9-128203550-C-T, REVEL 0.32, CADD 22.50
- A27A (p.Ala27Ala), rs1268920821, gnomAD 9-128203551-G-T, CADD 14.00
- D28N (p.Asp28Asn), ExAC rs762189357, gnomAD rs762189357, REVEL 0.29, CADD 22.00
- D28G (p.Asp28Gly), gnomAD 9-128203553-A-G, REVEL 0.30, CADD 23.90
- D28D (p.Asp28Asp), rs577437504, gnomAD 9-128203554-C-T, CADD 14.60
- L29F (p.Leu29Phe), ExAC rs750933399, gnomAD rs750933399, REVEL 0.71, CADD 24.20
- L29I (p.Leu29Ile), gnomAD 9-128203555-C-A, REVEL 0.51, CADD 23.40
- p.Leu29 Asp30delinsHis, gnomAD 9-128203555-CTCG-, CADD 22.40
- L29P (p.Leu29Pro), gnomAD 9-128203556-T-C, REVEL 0.92, CADD 28.70
- L29L (p.Leu29Leu), gnomAD 9-128203557-C-T, CADD 14.30
- D30A (p.Asp30Ala), ExAC rs778543086, gnomAD rs778543086, REVEL 0.66, CADD 25.60
- D30N (p.Asp30Asn), ExAC rs756572497, gnomAD rs756572497, REVEL 0.59, CADD 28.70
- D30Y (p.Asp30Tyr), gnomAD 9-128203558-G-T, REVEL 0.86, CADD 31.00
- D30G (p.Asp30Gly), gnomAD 9-128203559-A-G, REVEL 0.80, CADD 29.20
- D30E (p.Asp30Glu), gnomAD 9-128203560-C-A, REVEL 0.36, CADD 22.80
- L31C (p.Leu31Cys), gnomAD 9-128203559-AC-A, CADD 27.50
- L31L (p.Leu31Leu), gnomAD 9-128203561-C-T, CADD 14.50
- L31M (p.Leu31Met), gnomAD 9-128203561-C-A, REVEL 0.74, CADD 23.60
- L31Q (p.Leu31Gln), gnomAD 9-128203562-T-A, REVEL 0.89, CADD 28.10
- L31P (p.Leu31Pro), gnomAD 9-128203562-T-C, REVEL 0.88, CADD 29.80
- P32L (p.Pro32Leu), rs1833619327, ClinGen CA375006552, ClinVar RCV001341808, Ensembl rs1833619327, REVEL 0.89, CADD 27.90, Uncertain significance, Developmental and epileptic encephalopathy, 31A
- P32R (p.Pro32Arg), gnomAD 9-128203563-GC-G, CADD 28.40
- P32S (p.Pro32Ser), gnomAD 9-128203564-C-T, REVEL 0.94, CADD 26.60
- P32T (p.Pro32Thr), gnomAD 9-128203564-C-A, REVEL 0.94, CADD 26.00
- P32Q (p.Pro32Gln), gnomAD 9-128203565-C-A, REVEL 0.92, CADD 26.90
- P32P (p.Pro32Pro), rs1362004131, gnomAD 9-128203566-G-A, CADD 14.60
- Q33* (p.Gln33Ter), rs1458807270, ClinGen CA375006555, ClinVar RCV003224769, AlphaMissense 0.71, MetaLR 0.92, Pathogenic
- Q33E (p.Gln33Glu), gnomAD rs1458807270, REVEL 0.88, AlphaMissense 0.71
- Q33R (p.Gln33Arg), ExAC rs752123322, gnomAD rs752123322, REVEL 0.89, CADD 28.80
- Q33K (p.Gln33Lys), gnomAD 9-128203567-C-A, REVEL 0.91, CADD 25.70
- Q33H (p.Gln33His), gnomAD 9-128203569-G-T, REVEL 0.92, CADD 28.90
- Q33Q (p.Gln33Gln), gnomAD 9-128203569-G-A, CADD 14.80
- I34L (p.Ile34Leu), gnomAD 9-128203570-A-C, REVEL 0.75, CADD 24.90
- I34V (p.Ile34Val), gnomAD 9-128203570-A-G, REVEL 0.76, CADD 25.50
- I34T (p.Ile34Thr), gnomAD 9-128203571-T-C, REVEL 0.95, CADD 27.30
- I34M (p.Ile34Met), gnomAD 9-128203572-C-G, REVEL 0.91, CADD 24.50
- I34I (p.Ile34Ile), rs1478390889, gnomAD 9-128203572-C-A, CADD 15.30
- A35S (p.Ala35Ser), rs1404767209, ClinGen CA375006603, ClinVar RCV000696313, gnomAD rs1404767209, REVEL 0.88, CADD 29.30, Uncertain significance, Developmental and epileptic encephalopathy, 31A
- A35T (p.Ala35Thr), gnomAD 9-128203573-G-A, REVEL 0.83, CADD 31.00
- A35D (p.Ala35Asp), gnomAD 9-128203574-C-A, REVEL 0.92, CADD 28.80
- A35A (p.Ala35Ala), rs758104991, gnomAD 9-128203575-T-C, CADD 15.00
- V36M (p.Val36Met), gnomAD 9-128203576-G-A, REVEL 0.93, CADD 29.50
- V36A (p.Val36Ala), gnomAD 9-128203577-T-C, REVEL 0.88, CADD 25.20
- V36E (p.Val36Glu), gnomAD 9-128203577-T-A, REVEL 0.94, CADD 32.00
- V36V (p.Val36Val), rs972860852, gnomAD 9-128203578-G-T, CADD 14.90
- V37L (p.Val37Leu), gnomAD 9-128203579-G-T, REVEL 0.84, CADD 24.90
- V37A (p.Val37Ala), gnomAD 9-128203580-T-C, REVEL 0.93, CADD 31.00
- V37V (p.Val37Val), gnomAD 9-128203581-G-T, CADD 14.20
- G38D (p.Gly38Asp), gnomAD rs1379393104, REVEL 0.95, CADD 29.50
- G38S (p.Gly38Ser), rs1131692025, ClinGen CA375006653, ClinVar RCV000493617, ClinVar RCV000988256, REVEL 0.93, CADD 31.00, Conflicting interpretations, not provided; Developmental and epileptic encephalopathy, 31A
- G38A (p.Gly38Ala), gnomAD 9-128203580-TG-T, CADD 25.20
- G38C (p.Gly38Cys), gnomAD 9-128203582-G-T, REVEL 0.93, CADD 32.00
- G38V (p.Gly38Val), gnomAD 9-128203583-G-T, REVEL 0.95, CADD 29.20
- G38G (p.Gly38Gly), rs1326366504, gnomAD 9-128203584-C-A, CADD 15.60
Public DNM1 analysis runs
- DNM1 analysis run — DNM1 (1,076 variants) — completed 2026-08-21