SMN1 (Survival motor neuron protein) variants and mutations
SMN1 (also known as Survival motor neuron protein) is a human protein-coding gene encoding a survival motor neuron protein. It is required for assembly of small nuclear ribonucleoproteins and other RNA-protein complexes, with motor neurons being especially sensitive to reduced protein levels. Biallelic loss of functional SMN1 causes spinal muscular atrophy, whose severity is strongly modified by SMN2 copy number. This analysis covers 244 SMN1 variants and mutations. Of these, 88% have computational variant effect predictions. Disease context includes Proximal spinal muscular atrophy type 3, spinal muscular atrophy, type 1, and spinal muscular atrophy, type III. Example SMN1 variants include A2G, A2V, and A2A.
Variant analysis overview
- Gene: SMN1
- Protein: Survival motor neuron protein
- UniProt accession: Q16637
- Organism: Homo sapiens
- Variants analyzed: 244
- Variant scope: all variants
- Completed: 2026-08-22
Variant and mutation evidence
- Variant composition: 125 unspecified-consequence records; 2 frameshift variants; 26 synonymous variants; 79 missense variants; 5 in-frame deletions; 2 in-frame insertions; 3 splice-region variants; 1 stop-gained variants; 1 stop lost; 2 substitution
- Prediction scores: 215 variants have prediction scores (88% of the analyzed set).
Clinical, disease, and population context
- Disease context: 32 disease associations are represented. Top associations: Proximal spinal muscular atrophy type 3, spinal muscular atrophy, type 1, spinal muscular atrophy, type III, spinal muscular atrophy, type II, Proximal spinal muscular atrophy type 2, spinal muscular atrophy, spinal muscular atrophy, type IV, Proximal spinal muscular atrophy type 4, proximal spinal muscular atrophy, neurodegenerative disease, Atrophy, arthrogryposis.
Protein structure and variant hotspots
- Protein features: 1 domains; 10 post-translational modification sites.
- Structural context: 18 variants have structural context.
- PTM context: 20 variants overlap post-translational modification sites.
Data sources
Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.
Notable SMN1 variants
Examples include A2G, A2V, A2A, M3E, M3V, M3L, M3K, M3R. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- A2G (p.Ala2Gly), rs75030631, gnomAD rs75030631, UniProt VAR 005615, REVEL 0.61, CADD 25.70, Pathogenic, Spinal muscular atrophy; not provided; Kugelberg-Welander disease
- A2V (p.Ala2Val), rs1554066397, gnomAD rs1554066397, ClinGen CA360089498, ClinVar RCV000785800, REVEL 0.51, CADD 23.60, Likely pathogenic, not provided
- A2A (p.Ala2Ala), gnomAD 5-70049691-G-T, CADD 13.90
- M3E (p.Met3Glu), gnomAD 5-70049691-GAT-G, CADD 24.90
- M3V (p.Met3Val), gnomAD 5-70049692-A-G, REVEL 0.47, CADD 19.30
- M3L (p.Met3Leu), gnomAD 5-70049692-A-C, REVEL 0.46, CADD 22.40
- M3K (p.Met3Lys), gnomAD 5-70049693-T-A, REVEL 0.58, CADD 22.80
- M3R (p.Met3Arg), gnomAD 5-70049693-T-G, REVEL 0.62, CADD 22.90
- M3T (p.Met3Thr), gnomAD 5-70049693-T-C, REVEL 0.52, CADD 19.30
- S4G (p.Ser4Gly), Ensembl rs1446964734, REVEL 0.36, CADD 15.90
- S4R (p.Ser4Arg), Ensembl rs1774432178, REVEL 0.33, CADD 3.24
- S4T (p.Ser4Thr), gnomAD rs1408282671, REVEL 0.43, CADD 20.30
- S4N (p.Ser4Asn), gnomAD 5-70049696-G-A, REVEL 0.36, CADD 21.00
- S4I (p.Ser4Ile), gnomAD 5-70049696-G-T, REVEL 0.41, CADD 23.20
- S4S (p.Ser4Ser), rs1774432178, gnomAD 5-70049697-C-T, CADD 8.24
- S5A (p.Ser5Ala), rs2532099835, ClinVar RCV004576116, Pathogenic
- S5G (p.Ser5Gly), Ensembl rs1259001921, REVEL 0.34, CADD 13.80
- S5R (p.Ser5Arg), TOPMed rs1774432497, REVEL 0.30, CADD 20.00
- S5I (p.Ser5Ile), gnomAD 5-70049699-G-T, REVEL 0.36, CADD 22.40
- S5T (p.Ser5Thr), gnomAD 5-70049699-G-C, REVEL 0.37, CADD 17.60
- S5S (p.Ser5Ser), rs1774432497, gnomAD 5-70049700-C-T, CADD 8.12
- G6C (p.Gly6Cys), gnomAD rs1208576707, MetaLR 0.91, MetaSVM 0.63
- G6S (p.Gly6Ser), Ensembl rs1244662996, REVEL 0.31, CADD 12.20
- G6R (p.Gly6Arg), gnomAD 5-70049701-G-C, REVEL 0.42, CADD 22.00
- G6G (p.Gly6Gly), rs1439722209, gnomAD 5-70049703-C-A, CADD 7.76
- G7C (p.Gly7Cys), gnomAD 5-70049704-G-T, REVEL 0.46, CADD 23.10
- G7G (p.Gly7Gly), rs1774433372, gnomAD 5-70049706-C-T, CADD 8.47
- S8R (p.Ser8Arg), Ensembl rs1221447932, REVEL 0.18, CADD 14.60
- p.Ser8 Gly11del, rs1490073523, gnomAD 5-70049700-CGGCGG, CADD 16.40
- S8G (p.Ser8Gly), gnomAD 5-70049707-A-G, REVEL 0.25, CADD 13.50
- S8T (p.Ser8Thr), gnomAD 5-70049708-G-C, REVEL 0.20, CADD 4.44
- G9C (p.Gly9Cys), gnomAD rs1372819533, REVEL 0.36, CADD 22.80
- G9G (p.Gly9Gly), gnomAD 5-70049712-T-C, CADD 8.55
- G10C (p.Gly10Cys), 1000Genomes rs895571119, gnomAD rs895571119, REVEL 0.36, CADD 12.90
- G10S (p.Gly10Ser), 1000Genomes rs895571119, gnomAD rs895571119, REVEL 0.32, CADD 10.50
- G10D (p.Gly10Asp), gnomAD 5-70049714-G-A, REVEL 0.35, CADD 14.60
- G10G (p.Gly10Gly), rs1290224606, gnomAD 5-70049715-C-T, CADD 11.50
- G11C (p.Gly11Cys), gnomAD 5-70049716-G-T, REVEL 0.35, CADD 14.50
- G11S (p.Gly11Ser), gnomAD 5-70049716-G-A, REVEL 0.35, CADD 12.50
- G11G (p.Gly11Gly), rs1774434325, gnomAD 5-70049718-C-T, CADD 9.96
- p.Val12 Pro13insSerGlyGlyGlyGly, gnomAD 5-70049720-T-TCAG, CADD 10.90
- V12V (p.Val12Val), rs1321517494, gnomAD 5-70049721-C-A, CADD 8.73
- P13L (p.Pro13Leu), Ensembl rs1774434758, MetaLR 0.90, MetaSVM 0.64
- P13S (p.Pro13Ser), Ensembl rs1343835779, REVEL 0.25, CADD 9.86
- P13Q (p.Pro13Gln), gnomAD 5-70049723-C-A, REVEL 0.30, CADD 17.70
- P13R (p.Pro13Arg), gnomAD 5-70049723-C-G, REVEL 0.29, CADD 15.30
- P13P (p.Pro13Pro), gnomAD 5-70049724-G-A, CADD 7.90
- E14Q (p.Glu14Gln), gnomAD 5-70049725-G-C, REVEL 0.36, CADD 26.20
- E14A (p.Glu14Ala), gnomAD 5-70049726-A-C, REVEL 0.35, CADD 25.60
- E14D (p.Glu14Asp), gnomAD 5-70049727-G-T, REVEL 0.37, CADD 24.80
- Q15* (p.Gln15Ter), rs79310136, ClinGen CA360089657, ClinVar RCV003482884, Ensembl rs79310136, Pathogenic
- Q15R (p.Gln15Arg), gnomAD 5-70049729-A-G, REVEL 0.40, CADD 18.60
- E16Q (p.Glu16Gln), Ensembl rs1295551831, MetaLR 0.92, MetaSVM 0.74
- E16del (p.Glu16del), gnomAD 5-70049728-CAGG-C, CADD 18.90
- E16K (p.Glu16Lys), gnomAD 5-70049731-G-A, REVEL 0.47, CADD 25.90
- D17G (p.Asp17Gly), gnomAD 5-70049735-A-G, REVEL 0.47, CADD 25.30
- D17E (p.Asp17Glu), gnomAD 5-70049736-T-G, REVEL 0.27, CADD 7.66
- S18F (p.Ser18Phe), Ensembl rs1774435054, REVEL 0.33, CADD 22.50
- V19M (p.Val19Met), gnomAD 5-70049740-G-A, REVEL 0.63, CADD 23.50
- V19V (p.Val19Val), gnomAD 5-70049742-G-C, CADD 12.30
- L20L (p.Leu20Leu), gnomAD 5-70049743-C-T, CADD 14.50
- F21L (p.Phe21Leu), gnomAD rs1448525953, REVEL 0.75, CADD 24.40
- F21S (p.Phe21Ser), Ensembl rs74900327, cosmic curated COSV63621, MetaLR 0.96, MetaSVM 1.09
- F21del (p.Phe21del), gnomAD 5-70049743-CTGT-C, CADD 19.70
- F21V (p.Phe21Val), gnomAD 5-70049746-T-G, REVEL 0.79, CADD 27.00
- F21F (p.Phe21Phe), rs1203191487, gnomAD 5-70049748-C-T, CADD 15.00
- R22L (p.Arg22Leu), gnomAD 5-70049750-G-T, REVEL 0.50, CADD 23.50
- R22Q (p.Arg22Gln), gnomAD 5-70049750-G-A, REVEL 0.37, CADD 23.20
- R23C (p.Arg23Cys), Ensembl rs1774435430, REVEL 0.48, CADD 23.80
- G24S (p.Gly24Ser), Ensembl rs1749337273, MetaLR 0.95, MetaSVM 1.07
- G24D (p.Gly24Asp), gnomAD 5-70049756-G-A, REVEL 0.65, CADD 23.90
- G24G (p.Gly24Gly), rs1264293029, gnomAD 5-70049757-C-T, CADD 13.30
- T25T (p.Thr25Thr), rs1444686494, gnomAD 5-70049760-A-G, CADD 6.66
- G26D (p.Gly26Asp), gnomAD rs1202831370, REVEL 0.86, CADD 24.20, Likely pathogenic, not provided
- G26S (p.Gly26Ser), gnomAD 5-70049761-G-A, REVEL 0.75, CADD 27.00
- G26A (p.Gly26Ala), gnomAD 5-70049762-G-C, REVEL 0.78, CADD 25.60
- Q27Q (p.Gln27Gln), rs1232696462, gnomAD 5-70049766-G-A, CADD 26.00
- D30N (p.Asp30Asn), rs104893930, ClinGen CA254688, ClinVar RCV000009752, UniProt VAR 034803, AlphaMissense 0.62, MetaLR 0.97, Pathogenic, Spinal muscular atrophy, type II
- I33* (p.Ile33Ter), rs1554081950, Ensembl rs1554081950, ClinGen CA658657450, ClinVar RCV000516576, Pathogenic
- D44V (p.Asp44Val), rs104893931, ClinGen CA254683, ClinVar RCV000009745, UniProt VAR 034804, AlphaMissense 0.99, MetaLR 0.96, Pathogenic, Kugelberg-Welander disease
- A75T (p.Ala75Thr), rs2532112257, ClinGen CA360092835, ClinVar RCV002475294, Uncertain significance, not provided
- Q81L (p.Gln81Leu), rs1580886807, ClinGen CA360092989, ClinVar RCV000993024, Ensembl rs1580886807, AlphaMissense 0.12, MetaLR 0.89, Uncertain significance, not provided
- Q90* (p.Gln90Ter), rs2532112318, cosmic curated COSV66314, ClinGen CA360093167, ClinVar RCV003445470, Likely pathogenic
- K93T (p.Lys93Thr), rs1580886828, cosmic curated COSV10748, Ensembl rs1580886828, ClinGen CA360093290, AlphaMissense 0.19, MetaLR 0.92, Uncertain significance, Kugelberg-Welander disease
- V94F (p.Val94Phe), rs1749440512, ClinGen CA360093320, ClinVar RCV001194654, Ensembl rs1749440512, AlphaMissense 0.46, MetaLR 0.95, Likely pathogenic, Werdnig-Hoffmann disease
- V94G (p.Val94Gly), cosmic curated COSV10741, MetaLR 0.95, MetaSVM 1.01
- G95R (p.Gly95Arg), rs104893927, Ensembl rs104893927, ClinGen CA254690, ClinVar RCV000009753, AlphaMissense 0.86, MetaLR 0.98, Pathogenic, Spinal muscular atrophy; not provided
- W102* (p.Trp102Ter), rs77804083, ClinGen CA254685, ClinVar RCV000009746, ClinVar RCV000009747, Pathogenic
- G106S (p.Gly106Ser), rs1561499628, ClinGen CA360093797, ClinVar RCV000785803, Ensembl rs1561499628, AlphaMissense 0.23, MetaLR 0.97, Uncertain significance, not provided
- G106V (p.Gly106Val), rs2532112549, ClinGen CA360093805, ClinVar RCV003491531, Uncertain significance, not provided
- A111G (p.Ala111Gly), rs104893935, Ensembl rs104893935, ClinGen CA254692, ClinVar RCV000009754, AlphaMissense 0.38, MetaLR 0.92, Pathogenic, not provided
- I116F (p.Ile116Phe), rs104893933, Ensembl rs104893933, ClinGen CA254696, ClinVar RCV000009757, AlphaMissense 0.26, MetaLR 0.92, Pathogenic, not provided
- I116T (p.Ile116Thr), rs2532112594, ClinVar RCV004576117, ClinVar RCV004691644, Likely pathogenic, Spinal muscular atrophy; Werdnig-Hoffmann disease; Kugelberg-Welander disease
- Y127H (p.Tyr127His), rs1749441633, ClinGen CA360094202, ClinVar RCV001089661, Ensembl rs1749441633, AlphaMissense 0.98, MetaLR 0.86, Likely pathogenic, Kugelberg-Welander disease
- Y130C (p.Tyr130Cys), rs397514517, ClinGen CA261139, ClinVar RCV000032708, Ensembl rs397514517, AlphaMissense 0.87, MetaLR 0.88, Pathogenic, Kugelberg-Welander disease
- Y130H (p.Tyr130His), rs397514518, Ensembl rs397514518, ClinGen CA261142, ClinVar RCV000032709, AlphaMissense 0.96, MetaLR 0.88, Pathogenic, Kugelberg-Welander disease
- Q136E (p.Gln136Glu), rs104893934, ClinGen CA254698, ClinVar RCV000009758, UniProt VAR 034808, AlphaMissense 0.33, MetaLR 0.74, Pathogenic, Werdnig-Hoffmann disease
- L138P (p.Leu138Pro), Ensembl rs77491186, MetaLR 0.96, MetaSVM 1.08
- D140V (p.Asp140Val), rs1554081968, ClinGen CA16616716, ClinVar RCV000516973, ClinVar RCV000785809, AlphaMissense 0.42, MetaLR 0.97, Conflicting interpretations, Spinal muscular atrophy; not specified; not provided
- P144Q (p.Pro144Gln), cosmic curated COSV63621, MetaLR 0.95, MetaSVM 1.20
- N150K (p.Asn150Lys), cosmic curated COSV10468, MetaLR 0.79, MetaSVM 0.18
- Q154* (p.Gln154Ter), rs1561499692, Ensembl rs1561499692, ClinGen CA360094801, ClinVar RCV000713370, Likely pathogenic
- Q157* (p.Gln157Ter), rs1580886973, Ensembl rs1580886973, ClinGen CA360094883, ClinVar RCV000993025, Pathogenic
- Q164* (p.Gln164Ter), rs1561499713, ClinVar RCV004576181, AlphaMissense 0.08, MetaLR 0.89, Pathogenic
- Q164K (p.Gln164Lys), rs1561499713, Ensembl rs1561499713, ClinGen CA360095061, ClinVar RCV000785802, AlphaMissense 0.08, MetaLR 0.89, Uncertain significance, not provided; Werdnig-Hoffmann disease
- W190* (p.Trp190Ter), rs1561499737, ClinGen CA360095544, ClinVar RCV000785801, Ensembl rs1561499737, Pathogenic
- G211C (p.Gly211Cys), gnomAD 5-70069238-G-T, REVEL 0.75, CADD 23.80
- N215K (p.Asn215Lys), Ensembl rs1749518339, MetaLR 0.40, MetaSVM -0.67
- P218R (p.Pro218Arg), Ensembl rs1749518980
- P218S (p.Pro218Ser), gnomAD rs1265341884, MetaLR 0.74, MetaSVM 0.20
- P219P (p.Pro219Pro), gnomAD 5-70069264-G-A, CADD 0.40
- P221L (p.Pro221Leu), rs1336155324, gnomAD rs1336155324, ClinGen CA360096119, ClinVar RCV000785796, AlphaMissense 0.11, MetaLR 0.23, Uncertain significance, Spinal muscular atrophy, type II
- P226L (p.Pro226Leu), Ensembl rs1749519818
- P226T (p.Pro226Thr), Ensembl rs1749519656, MetaLR 0.76, MetaSVM 0.60
- P226del (p.Pro226del), gnomAD 5-70069270-GCCA-G, CADD 9.21
- p.Pro226dup, rs1408167278, gnomAD 5-70069270-G-GCCA, CADD 8.98
- L228* (p.Leu228Ter), rs79784540, Ensembl rs79784540, ClinGen CA16044072, ClinVar RCV000516476, Pathogenic
- F236L (p.Phe236Leu), rs2532122055, ClinGen CA360096379, ClinVar RCV002475292, Uncertain significance, not provided
- P241L (p.Pro241Leu), Ensembl rs2112811917, MetaLR 0.79, MetaSVM 0.67
- I243L (p.Ile243Leu), gnomAD 5-70070644-A-C, REVEL 0.51, CADD 21.40
- P244L (p.Pro244Leu), gnomAD 5-70070648-C-T, REVEL 0.83, CADD 24.50
- P245L (p.Pro245Leu), rs75586164, gnomAD rs75586164, UniProt VAR 010051, REVEL 0.84, CADD 26.90, Pathogenic, in SMA3
- P245S (p.Pro245Ser), gnomAD 5-70070650-C-T, REVEL 0.85, CADD 24.00
- P246P (p.Pro246Pro), gnomAD 5-70070655-A-T, CADD 9.15
- P248A (p.Pro248Ala), gnomAD 5-70070659-C-G, REVEL 0.83, CADD 23.50
- I249V (p.Ile249Val), Ensembl rs1749549104, MetaLR 0.87, MetaSVM 0.50
- P251L (p.Pro251Leu), gnomAD 5-70070669-C-T, REVEL 0.76, CADD 24.50
- P251A (p.Pro251Ala), rs1774582919, gnomAD 5-70071180-C-G, CADD 3.48
- P251S (p.Pro251Ser), gnomAD 5-70071180-C-T, CADD 13.10
- P251T (p.Pro251Thr), gnomAD 5-70071180-C-A, CADD 3.46
- P251H (p.Pro251His), gnomAD 5-70071181-C-A, CADD 3.94
- P251P (p.Pro251Pro), rs1219359069, gnomAD 5-70071329-G-A, CADD 0.53
- D252G (p.Asp252Gly), gnomAD 5-70070672-A-G, REVEL 0.92, CADD 26.10
- D256Y (p.Asp256Tyr), rs2532126303, ClinVar RCV004576118, Likely pathogenic, Kugelberg-Welander disease
- A257T (p.Ala257Thr), Ensembl rs77871384, MetaLR 0.89, MetaSVM 0.59
- A257D (p.Ala257Asp), gnomAD 5-70070687-C-A, REVEL 0.38, CADD 18.30
- D258A (p.Asp258Ala), gnomAD 5-70070690-A-C, REVEL 0.81, CADD 25.20
- D258N (p.Asp258Asn), gnomAD 5-70071306-G-A, CADD 4.26
- A259V (p.Ala259Val), rs1774582663, gnomAD 5-70071174-GC-G, CADD 5.25
- A259S (p.Ala259Ser), gnomAD 5-70071174-G-T, CADD 5.76
- A259D (p.Ala259Asp), gnomAD 5-70071175-C-A, CADD 4.14
- A259A (p.Ala259Ala), gnomAD 5-70071176-T-C, CADD 8.33
- G261G (p.Gly261Gly), gnomAD 5-70070700-A-C, CADD 13.10
- S262G (p.Ser262Gly), rs104893932, Ensembl rs104893932, ClinGen CA254694, ClinVar RCV000009756, AlphaMissense 0.51, MetaLR 0.96, Pathogenic, Kugelberg-Welander disease
- S262I (p.Ser262Ile), rs1554066659, Ensembl rs1554066659, ClinGen CA254675, ClinVar RCV000009736, AlphaMissense 0.97, MetaLR 0.96, Pathogenic/Likely pathogenic, not provided; Kugelberg-Welander disease
- M263V (p.Met263Val), gnomAD rs1354905416, REVEL 0.85, CADD 22.20
- L264F (p.Leu264Phe), gnomAD 5-70070709-A-C, REVEL 0.81, CADD 22.60
- S266P (p.Ser266Pro), rs1561500885, ClinGen CA360097052, ClinVar RCV000785804, Ensembl rs1561500885, REVEL 0.92, CADD 24.30, Pathogenic/Likely pathogenic, not provided
- W267* (p.Trp267Ter), rs2532126489, ClinGen CA360097099, ClinVar RCV003237288, Pathogenic
- W267C (p.Trp267Cys), gnomAD 5-70070718-G-T, REVEL 0.97, CADD 32.00
- Y268C (p.Tyr268Cys), rs1554082113, ClinGen CA360097121, ClinVar RCV000517381, ClinVar RCV002272276, AlphaMissense 0.99, MetaLR 0.99, Conflicting interpretations, Spinal muscular atrophy; not specified
- M269V (p.Met269Val), Ensembl rs1319267516, MetaLR 0.96, MetaSVM 1.09
- S270G (p.Ser270Gly), rs2532126565, ClinVar RCV004576180, Likely pathogenic, Kugelberg-Welander disease
- Y272C (p.Tyr272Cys), Ensembl rs1428103360, REVEL 0.97, CADD 31.00, Pathogenic/Likely pathogenic, Spinal muscular atrophy; not provided; Werdnig-Hoffmann disease
- H273L (p.His273Leu), rs1554082114, Ensembl rs1554082114, ClinGen CA360097259, ClinVar RCV000516182, AlphaMissense 0.92, MetaLR 0.96, Conflicting interpretations, not provided; not specified
- H273Q (p.His273Gln), cosmic curated COSV10468, MetaLR 0.96, MetaSVM 1.00
- H273P (p.His273Pro), gnomAD 5-70070735-A-C, REVEL 0.96, CADD 27.80
- T274I (p.Thr274Ile), rs1554066666, ClinGen CA254673, ClinVar RCV000009734, ClinVar RCV000009735, REVEL 0.97, CADD 26.70, Conflicting interpretations, not provided; Kugelberg-Welander disease
- T274A (p.Thr274Ala), rs1280023260, gnomAD 5-70071282-A-G, CADD 3.12
- T274S (p.Thr274Ser), gnomAD 5-70071325-C-G, CADD 2.44
- T274N (p.Thr274Asn), rs1291656771, gnomAD 5-70071325-C-A, CADD 2.27
- G275C (p.Gly275Cys), Ensembl rs1580728940
- G275D (p.Gly275Asp), rs1561500920, Ensembl rs1561500920, ClinGen CA360097300, ClinVar RCV000785799, AlphaMissense 1.00, MetaLR 0.99, Likely pathogenic, not provided
- G275S (p.Gly275Ser), rs77301881, ClinGen CA120725213, ClinVar RCV003489437, UniProt VAR 005619, AlphaMissense 0.99, MetaLR 0.99, Likely pathogenic, not provided
- Y276C (p.Tyr276Cys), rs2532126706, ClinVar RCV004576184, Pathogenic, Werdnig-Hoffmann disease
- Y277H (p.Tyr277His), Ensembl rs1774563020, MetaLR 0.98, MetaSVM 1.04
- M278I (p.Met278Ile), Ensembl rs1774563213, MetaLR 0.93, MetaSVM 1.02
- M278T (p.Met278Thr), gnomAD 5-70070750-T-C, REVEL 0.67, CADD 22.80
- M278V (p.Met278Val), gnomAD 5-70077022-A-G, CADD 7.74
- M278L (p.Met278Leu), rs1261603789, gnomAD 5-70077022-A-T, CADD 7.04
- G279C (p.Gly279Cys), rs77969175, UniProt VAR 007990, gnomAD rs77969175, AlphaMissense 0.96, MetaLR 0.96, Pathogenic/Likely pathogenic, Spinal muscular atrophy
- G279D (p.Gly279Asp), rs76163360, Ensembl rs76163360, ClinGen CA360098107, ClinVar RCV001192808, REVEL 0.94, CADD 24.80, Uncertain significance, Spinal muscular atrophy
- G279R (p.Gly279Arg), rs77969175, ClinGen CA360098099, ClinVar RCV002642356, AlphaMissense 0.96, MetaLR 0.96, Pathogenic/Likely pathogenic, Spinal muscular atrophy
- G279S (p.Gly279Ser), rs752716074, ExAC rs752716074, gnomAD rs752716074, ClinGen CA3294939, REVEL 0.88, CADD 31.00, Uncertain significance, in SMA1
- G279V (p.Gly279Val), rs76163360, ClinGen CA254679, ClinVar RCV000009738, UniProt VAR 005620, AlphaMissense 0.99, MetaLR 0.97, Pathogenic, Spinal muscular atrophy
- G279E (p.Gly279Glu), rs1350663373, gnomAD 5-70071286-G-A, CADD 2.63
- G279G (p.Gly279Gly), gnomAD 5-70076523-T-G, CADD 9.77
- F280C (p.Phe280Cys), TOPMed rs1749771553, Uncertain significance, not specified
- F280L (p.Phe280Leu), rs1164325688, TOPMed rs1164325688, gnomAD rs1164325688, ClinGen CA360098141, AlphaMissense 0.80, MetaLR 0.72, Uncertain significance, not provided
- F280S (p.Phe280Ser), gnomAD 5-70071289-T-C, CADD 4.48
Public SMN1 analysis runs
- SMN1 analysis run — SMN1 (244 variants) — completed 2026-08-22