MOG (Q16653) variants and mutations
MOG (also known as Q16653) is a human protein-coding gene encoding a myelin-oligodendrocyte glycoprotein protein. It is displayed on the outer surface of central-nervous-system myelin and oligodendrocytes and is accessible to circulating antibodies. Pathogenic antibodies against MOG define MOG antibody-associated disease, an inflammatory demyelinating disorder distinct from multiple sclerosis and aquaporin-4-positive neuromyelitis optica. This analysis covers 535 MOG variants and mutations. Of these, 76% have computational variant effect predictions. Disease context includes transient neonatal diabetes mellitus, narcolepsy-cataplexy syndrome, and hereditary disease. Example MOG variants include A2T, A2S, and A2V.
Variant analysis overview
- Gene: MOG
- Protein: Q16653
- UniProt accession: Q16653
- Organism: Homo sapiens
- Variants analyzed: 535
- Variant scope: all variants
- Completed: 2026-08-19
Variant and mutation evidence
- Variant composition: 315 unspecified-consequence records; 104 missense variants; 79 synonymous variants; 14 frameshift variants; 10 stop-gained variants; 9 in-frame deletions; 1 in-frame insertions; 2 splice-region variants; 1 substitution
- Prediction scores: 408 variants have prediction scores (76% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: transient neonatal diabetes mellitus, narcolepsy-cataplexy syndrome, hereditary disease, monogenic diabetes, myeloid sarcoma, Alzheimer disease, acute disseminated encephalomyelitis, myelitis, neuromyelitis optica, optic neuritis, ocular melanoma, major depressive disorder.
Protein structure and variant hotspots
- Protein features: 2 transmembrane segments; 1 domains; 1 post-translational modification sites.
- Structural context: 334 variants have structural context.
- PTM context: 2 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, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.
Notable MOG variants
Examples include A2T, A2S, A2V, A2A, S3N, S3R, S3S, L4V. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- A2T (p.Ala2Thr), gnomAD rs1390934933, REVEL 0.05, MetaLR 0.02
- A2S (p.Ala2Ser), gnomAD 6-29657213-G-T, REVEL 0.03, MetaLR 0.02
- A2V (p.Ala2Val), gnomAD 6-29657214-C-T, REVEL 0.07, MetaLR 0.03
- A2A (p.Ala2Ala), rs1306694465, gnomAD 6-29657215-A-T, CADD 3.58
- S3N (p.Ser3Asn), ExAC rs775400607, gnomAD rs775400607, REVEL 0.03, MetaLR 0.02
- S3R (p.Ser3Arg), gnomAD 6-29657216-A-C, REVEL 0.04, MetaLR 0.02
- S3S (p.Ser3Ser), rs1411009982, gnomAD 6-29657218-C-T, CADD 4.36
- L4V (p.Leu4Val), gnomAD 6-29657219-T-G, REVEL 0.04, MetaLR 0.02
- S5* (p.Ser5Ter), NCI-TCGA TCGA novel, ExAC rs762765531, TOPMed rs762765531, gnomAD rs762765531, CADD 25.40, Variant assessed as somatic; high impact.
- S5L (p.Ser5Leu), rs762765531, cosmic curated COSV10653, ExAC rs762765531, TOPMed rs762765531, REVEL 0.06, MetaLR 0.01, Variant assessed as somatic; moderate impact.
- S5S (p.Ser5Ser), gnomAD 6-29657224-A-T, CADD 2.90
- R6I (p.Arg6Ile), cosmic curated COSV10097
- R6R (p.Arg6Arg), rs1767283256, gnomAD 6-29657225-A-C, CADD 5.32
- R6N (p.Arg6Asn), rs745376662, gnomAD 6-29657225-AG-A, CADD 21.70
- R6G (p.Arg6Gly), gnomAD 6-29657225-A-G, REVEL 0.04, MetaLR 0.01
- P7H (p.Pro7His), ExAC rs774294291, gnomAD rs774294291, REVEL 0.01, MetaLR 0.02, Uncertain significance, not specified
- P7L (p.Pro7Leu), ExAC rs774294291, gnomAD rs774294291, REVEL 0.02, MetaLR 0.02
- P7R (p.Pro7Arg), NCI-TCGA Cosmic COSV1009, cosmic curated COSV10097, Variant assessed as somatic; moderate impact.
- P7S (p.Pro7Ser), gnomAD rs1254164615, REVEL 0.08, MetaLR 0.01
- P7P (p.Pro7Pro), gnomAD 6-29657230-C-G, CADD 3.28
- S8F (p.Ser8Phe), gnomAD 6-29657232-C-T, REVEL 0.04, MetaLR 0.03
- L9A (p.Leu9Ala), gnomAD 6-29657229-CCT-C, CADD 15.20
- L9L (p.Leu9Leu), rs1338140741, gnomAD 6-29657234-C-T, CADD 2.90
- L9P (p.Leu9Pro), gnomAD 6-29657235-T-C, REVEL 0.19, MetaLR 0.08
- P10S (p.Pro10Ser), gnomAD rs1767287948, REVEL 0.04, MetaLR 0.03
- P10T (p.Pro10Thr), gnomAD 6-29657237-C-A, REVEL 0.04, MetaLR 0.04
- P10L (p.Pro10Leu), gnomAD 6-29657238-C-T, REVEL 0.06, MetaLR 0.05
- S11N (p.Ser11Asn), NCI-TCGA Cosmic COSV1009, cosmic curated COSV10097, REVEL 0.04, MetaLR 0.04, Variant assessed as somatic; moderate impact.
- S11R (p.Ser11Arg), Ensembl rs1767288738
- S11I (p.Ser11Ile), gnomAD 6-29657241-G-T, REVEL 0.11, MetaLR 0.05
- C12Y (p.Cys12Tyr), TOPMed rs1199948910, gnomAD rs1199948910, REVEL 0.03, MetaLR 0.01, Uncertain significance, not specified
- C12* (p.Cys12Ter), gnomAD 6-29657245-C-A, CADD 33.00
- L13I (p.Leu13Ile), gnomAD rs1193618296, REVEL 0.01, MetaLR 0.03, Uncertain significance, not specified
- L13L (p.Leu13Leu), gnomAD 6-29657248-C-A, CADD 1.36
- C14F (p.Cys14Phe), gnomAD 6-29657250-G-T, REVEL 0.03, MetaLR 0.02
- C14Y (p.Cys14Tyr), gnomAD 6-29657250-G-A, REVEL 0.03, MetaLR 0.02
- C14* (p.Cys14Ter), gnomAD 6-29657251-C-A, CADD 29.60
- C14W (p.Cys14Trp), gnomAD 6-29657251-C-G, REVEL 0.03, MetaLR 0.01
- C14C (p.Cys14Cys), gnomAD 6-29657251-C-T, CADD 3.58
- S15Y (p.Ser15Tyr), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- S15P (p.Ser15Pro), gnomAD 6-29657252-T-C, REVEL 0.08, MetaLR 0.02
- S15F (p.Ser15Phe), gnomAD 6-29657253-C-T, REVEL 0.06, MetaLR 0.02
- S15S (p.Ser15Ser), gnomAD 6-29657254-C-A, CADD 3.87
- F16del (p.Phe16del), gnomAD 6-29657253-CCTT-C, CADD 9.65
- F16S (p.Phe16Ser), gnomAD 6-29657254-CT-C, CADD 10.90
- F16F (p.Phe16Phe), rs1767292849, gnomAD 6-29657257-C-T, CADD 2.52
- L17F (p.Leu17Phe), ExAC rs761254394, gnomAD rs761254394, REVEL 0.01, MetaLR 0.02
- L17V (p.Leu17Val), gnomAD 6-29657258-C-G, REVEL 0.01, MetaLR 0.02
- L17I (p.Leu17Ile), gnomAD 6-29657258-C-A, REVEL 0.01, MetaLR 0.02
- L17L (p.Leu17Leu), gnomAD 6-29657260-C-A, CADD 1.44
- L18P (p.Leu18Pro), ESP rs150396974, TOPMed rs150396974, gnomAD rs150396974, REVEL 0.27, MetaLR 0.07
- L18I (p.Leu18Ile), gnomAD 6-29657261-C-A, REVEL 0.01, MetaLR 0.02
- L19F (p.Leu19Phe), TOPMed rs909239151, gnomAD rs909239151, REVEL 0.07, MetaLR 0.07
- L19I (p.Leu19Ile), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- p.Leu19 Leu22del, gnomAD 6-29657255-TTCCTC, CADD 8.63
- L20I (p.Leu20Ile), TOPMed rs1767296639, REVEL 0.02, MetaLR 0.03
- p.Leu20 Leu22del, rs71674097, gnomAD 6-29657255-TTCCTC, CADD 8.74
- L20F (p.Leu20Phe), gnomAD 6-29657267-C-T, REVEL 0.04, MetaLR 0.02
- L21F (p.Leu21Phe), rs1255064487, NCI-TCGA Cosmic COSV6532, cosmic curated COSV65321, TOPMed rs1255064487, REVEL 0.04, MetaLR 0.04, Variant assessed as somatic; moderate impact.
- L21V (p.Leu21Val), TOPMed rs1255064487, gnomAD rs1255064487
- p.Leu21 Leu22del, gnomAD 6-29657255-TTCCTC, CADD 8.73
- L21L (p.Leu21Leu), gnomAD 6-29657272-C-T, CADD 4.06
- p.Leu22dup, rs71674097, gnomAD 6-29657255-T-TTCC, CADD 9.21
- L22del (p.Leu22del), rs71674097, gnomAD 6-29657255-TTCC-T, CADD 8.75
- Q23R (p.Gln23Arg), TOPMed rs1425408003, gnomAD rs1425408003, REVEL 0.10, MetaLR 0.04
- V24A (p.Val24Ala), gnomAD rs1167141243, REVEL 0.09, MetaLR 0.03
- V24V (p.Val24Val), gnomAD 6-29657281-G-A, CADD 2.03
- S25T (p.Ser25Thr), gnomAD 6-29657282-T-A, REVEL 0.02, MetaLR 0.02
- S25F (p.Ser25Phe), gnomAD 6-29657283-C-T, REVEL 0.14, MetaLR 0.05
- S26S (p.Ser26Ser), gnomAD 6-29657287-C-A, CADD 2.81
- S27G (p.Ser27Gly), TOPMed rs1767303089
- S27R (p.Ser27Arg), TOPMed rs1767303830, NCI-TCGA TCGA novel, REVEL 0.13, MetaLR 0.05, Variant assessed as somatic; moderate impact.
- S27I (p.Ser27Ile), gnomAD 6-29657289-G-T, REVEL 0.14, MetaLR 0.06
- Y28H (p.Tyr28His), gnomAD 6-29657291-T-C, REVEL 0.01, MetaLR 0.02
- Y28F (p.Tyr28Phe), gnomAD 6-29657292-A-T, REVEL 0.03, MetaLR 0.03
- Y28Y (p.Tyr28Tyr), gnomAD 6-29657293-T-C, CADD 0.09
- A29T (p.Ala29Thr), gnomAD 6-29657294-G-A, REVEL 0.12, MetaLR 0.03
- A29V (p.Ala29Val), gnomAD 6-29657295-C-T, REVEL 0.19, MetaLR 0.04
- A29E (p.Ala29Glu), gnomAD 6-29657295-C-A, REVEL 0.23, MetaLR 0.03
- G30=, NCI-TCGA TCGA novel, Variant assessed as somatic; low impact.
- G30R (p.Gly30Arg), Ensembl rs1767304625, REVEL 0.26, MetaLR 0.03
- G30A (p.Gly30Ala), gnomAD 6-29657286-C-CCAG, CADD 18.30
- G30G (p.Gly30Gly), gnomAD 6-29659320-G-A, CADD 8.31
- Q31* (p.Gln31Ter), Ensembl rs1767940498
- Q31K (p.Gln31Lys), Ensembl rs1767940498
- Q31Q (p.Gln31Gln), rs1428077207, gnomAD 6-29659323-G-A, CADD 11.20
- F32C (p.Phe32Cys), Ensembl rs1767942094
- F32L (p.Phe32Leu), NCI-TCGA Cosmic COSV1009, cosmic curated COSV10097, Variant assessed as somatic; moderate impact.
- F32I (p.Phe32Ile), gnomAD 6-29659324-T-A, REVEL 0.16, CADD 25.90
- R33G (p.Arg33Gly), gnomAD rs1186928850, REVEL 0.19, CADD 22.60
- R33T (p.Arg33Thr), gnomAD 6-29659328-G-C, REVEL 0.08, CADD 15.90
- V34L (p.Val34Leu), Ensembl rs1583086041, REVEL 0.58, CADD 25.30
- V34A (p.Val34Ala), gnomAD 6-29659331-T-C, REVEL 0.75, CADD 26.60
- I35T (p.Ile35Thr), ExAC rs771221017, TOPMed rs771221017, gnomAD rs771221017, REVEL 0.18, CADD 20.30
- I35M (p.Ile35Met), gnomAD 6-29659335-A-G, REVEL 0.16, CADD 13.10
- G36* (p.Gly36Ter), gnomAD 6-29659336-G-T, CADD 38.00
- G36G (p.Gly36Gly), rs905751290, gnomAD 6-29659338-A-G, CADD 11.70
- P37Q (p.Pro37Gln), NCI-TCGA Cosmic COSV1009, cosmic curated COSV10097, Variant assessed as somatic; moderate impact.
- P37S (p.Pro37Ser), rs1450240079, gnomAD rs1450240079, AlphaMissense 0.27, MetaLR 0.33, Variant assessed as somatic; moderate impact.
- P37P (p.Pro37Pro), gnomAD 6-29659341-A-G, CADD 6.39
- R38G (p.Arg38Gly), gnomAD 6-29659342-A-G, REVEL 0.03, CADD 12.70
- R38S (p.Arg38Ser), gnomAD 6-29659344-A-C, REVEL 0.08, CADD 0.04
- H39Q (p.His39Gln), NCI-TCGA Cosmic COSV1009, cosmic curated COSV10097, TOPMed rs1767946826, gnomAD rs1767946826, REVEL 0.02, CADD 0.04, Variant assessed as somatic; moderate impact.
- H39Y (p.His39Tyr), ExAC rs776745318, gnomAD rs776745318, REVEL 0.05, CADD 9.46
- H39L (p.His39Leu), gnomAD 6-29659346-A-T, REVEL 0.03, CADD 15.40
- H39H (p.His39His), gnomAD 6-29659347-C-T, CADD 0.28
- P40H (p.Pro40His), NCI-TCGA Cosmic COSV6532, cosmic curated COSV65320, Variant assessed as somatic; moderate impact.
- P40S (p.Pro40Ser), cosmic curated COSV65321, ExAC rs563552917, TOPMed rs563552917, gnomAD rs563552917, REVEL 0.22, CADD 23.40, Uncertain significance
- P40T (p.Pro40Thr), rs563552917, ClinGen CA3690382, ClinVar RCV004329817, ExAC rs563552917, REVEL 0.32, CADD 23.20, Uncertain significance, not specified
- P40L (p.Pro40Leu), gnomAD 6-29659349-C-T, REVEL 0.29, CADD 23.80
- I41F (p.Ile41Phe), TOPMed rs1489289337, gnomAD rs1489289337
- I41L (p.Ile41Leu), TOPMed rs1489289337, gnomAD rs1489289337, REVEL 0.08, CADD 13.60
- I41M (p.Ile41Met), ExAC rs774206213, TOPMed rs774206213, gnomAD rs774206213, REVEL 0.49, CADD 22.80
- I41I (p.Ile41Ile), rs774206213, gnomAD 6-29659353-C-T, CADD 7.75
- R42Q (p.Arg42Gln), cosmic curated COSV65321, 1000Genomes rs1384705677, gnomAD rs1384705677, REVEL 0.07, CADD 13.70
- R42W (p.Arg42Trp), rs761804456, NCI-TCGA Cosmic COSV1009, cosmic curated COSV10097, ExAC rs761804456, REVEL 0.29, CADD 23.00, Variant assessed as somatic; moderate impact.
- A43S (p.Ala43Ser), cosmic curated COSV10468
- A43V (p.Ala43Val), NCI-TCGA Cosmic COSV6532, cosmic curated COSV65321, REVEL 0.33, CADD 22.60, Variant assessed as somatic; moderate impact.
- A43T (p.Ala43Thr), gnomAD 6-29659357-G-A, REVEL 0.48, CADD 24.90
- L44P (p.Leu44Pro), rs2481384823, ClinGen CA363038668, ClinVar RCV004483246, REVEL 0.29, CADD 18.80, Uncertain significance, not specified
- V45F (p.Val45Phe), cosmic curated COSV65321
- V45I (p.Val45Ile), NCI-TCGA Cosmic COSV6532, cosmic curated COSV65321, Variant assessed as somatic; moderate impact.
- V45V (p.Val45Val), rs1432366784, gnomAD 6-29659365-C-T, CADD 2.01
- G46E (p.Gly46Glu), NCI-TCGA Cosmic COSV6532, cosmic curated COSV65321, Variant assessed as somatic; moderate impact.
- G46R (p.Gly46Arg), 1000Genomes rs368958442, ESP rs368958442, ExAC rs368958442, TOPMed rs368958442, REVEL 0.75, CADD 25.80
- G46G (p.Gly46Gly), rs1767955450, gnomAD 6-29659368-G-T, CADD 2.65
- D47E (p.Asp47Glu), TOPMed rs1305283503, gnomAD rs1305283503, REVEL 0.03, CADD 8.04
- D47N (p.Asp47Asn), TOPMed rs1365254099, gnomAD rs1365254099, REVEL 0.05, CADD 21.20
- D47H (p.Asp47His), gnomAD 6-29659369-G-C, REVEL 0.14, CADD 23.00
- E48D (p.Glu48Asp), TOPMed rs1767957533, REVEL 0.04, CADD 10.80
- V49M (p.Val49Met), ExAC rs772760184, gnomAD rs772760184, REVEL 0.47, CADD 22.90
- V49V (p.Val49Val), gnomAD 6-29659377-G-A, CADD 3.44
- E50D (p.Glu50Asp), ExAC rs766015259, gnomAD rs766015259
- E50K (p.Glu50Lys), rs760213820, NCI-TCGA Cosmic COSV6532, cosmic curated COSV65320, ExAC rs760213820, REVEL 0.34, CADD 24.00, Variant assessed as somatic; moderate impact.
- E50* (p.Glu50Ter), gnomAD 6-29659378-G-T, CADD 37.00
- L51L (p.Leu51Leu), rs1210740201, gnomAD 6-29659381-T-C, CADD 4.41
- L51W (p.Leu51Trp), gnomAD 6-29659382-T-G, REVEL 0.49, CADD 27.10
- P52L (p.Pro52Leu), NCI-TCGA TCGA novel, Ensembl rs1767961042, Variant assessed as somatic; moderate impact.
- P52S (p.Pro52Ser), NCI-TCGA Cosmic COSV1009, cosmic curated COSV10097, Variant assessed as somatic; moderate impact.
- P52Q (p.Pro52Gln), gnomAD 6-29659385-C-A, REVEL 0.36, CADD 23.70
- P52P (p.Pro52Pro), gnomAD 6-29659386-A-C, CADD 1.79
- C53R (p.Cys53Arg), ExAC rs753458439, gnomAD rs753458439, REVEL 0.69, CADD 26.70
- C53Y (p.Cys53Tyr), Ensembl rs1229060348, REVEL 0.67, CADD 26.90
- R54C (p.Arg54Cys), ESP rs373194309, TOPMed rs373194309, gnomAD rs373194309, REVEL 0.32, CADD 26.70
- R54G (p.Arg54Gly), ESP rs373194309, TOPMed rs373194309, gnomAD rs373194309, REVEL 0.29, CADD 23.50
- R54H (p.Arg54His), rs530507776, NCI-TCGA Cosmic COSV1009, cosmic curated COSV10097, 1000Genomes rs530507776, REVEL 0.14, CADD 16.80, Variant assessed as somatic; moderate impact.
- R54L (p.Arg54Leu), 1000Genomes rs530507776, ExAC rs530507776, TOPMed rs530507776, gnomAD rs530507776, REVEL 0.31, CADD 23.00
- R54P (p.Arg54Pro), cosmic curated COSV10592, 1000Genomes rs530507776, ExAC rs530507776, TOPMed rs530507776, REVEL 0.34, CADD 24.70
- R54S (p.Arg54Ser), NCI-TCGA Cosmic COSV1009, cosmic curated COSV10097, Variant assessed as somatic; moderate impact.
- I55M (p.Ile55Met), ExAC rs753255282, gnomAD rs753255282, REVEL 0.29, CADD 14.10
- I55V (p.Ile55Val), rs200284390, ClinGen CA3690392, cosmic curated COSV65320, ClinVar RCV004142673, REVEL 0.09, CADD 15.70, Uncertain significance, not specified
- I55L (p.Ile55Leu), gnomAD 6-29659393-A-C, REVEL 0.14, CADD 7.92
- S56A (p.Ser56Ala), Ensembl rs891905086, REVEL 0.19, CADD 15.60
- S56S (p.Ser56Ser), gnomAD 6-29659398-T-C, CADD 6.69
- P57S (p.Pro57Ser), NCI-TCGA Cosmic COSV1009, cosmic curated COSV10097, Variant assessed as somatic; moderate impact.
- P57T (p.Pro57Thr), gnomAD 6-29659399-C-A, REVEL 0.31, CADD 24.30
- K59N (p.Lys59Asn), NCI-TCGA Cosmic COSV1009, cosmic curated COSV10097, Variant assessed as somatic; moderate impact.
- K59R (p.Lys59Arg), gnomAD 6-29659406-A-G, REVEL 0.02, CADD 15.70
- N60N (p.Asn60Asn), rs200795840, gnomAD 6-29659410-C-T, CADD 0.40
- N60K (p.Asn60Lys), gnomAD 6-29659410-C-A, REVEL 0.29, CADD 6.68
- A61G (p.Ala61Gly), Ensembl rs1767975549
- A61T (p.Ala61Thr), rs1294315820, ClinGen CA363038929, NCI-TCGA Cosmic COSV6532, cosmic curated COSV65321, REVEL 0.23, CADD 26.20, Uncertain significance, not specified
- G63C (p.Gly63Cys), cosmic curated COSV65321
- G63D (p.Gly63Asp), cosmic curated COSV10748
- G63V (p.Gly63Val), TOPMed rs1352864926
- M64I (p.Met64Ile), NCI-TCGA Cosmic COSV6532, cosmic curated COSV65321, Variant assessed as somatic; moderate impact.
- M64L (p.Met64Leu), gnomAD 6-29659420-A-T, REVEL 0.18, CADD 24.40
- E65* (p.Glu65Ter), NCI-TCGA Cosmic COSV1009, cosmic curated COSV10097, NCI-TCGA Cosmic COSV6532, Variant assessed as somatic; high impact.
- E65D (p.Glu65Asp), TOPMed rs1280144309, gnomAD rs1280144309, REVEL 0.40, CADD 21.30
- E65K (p.Glu65Lys), cosmic curated COSV65322, Ensembl rs1562178341
- E65Q (p.Glu65Gln), Ensembl rs1562178341
- E65G (p.Glu65Gly), rs1562178359, gnomAD 6-29659423-GA-G, CADD 32.00
- V66G (p.Val66Gly), Ensembl rs1767984571
- V66L (p.Val66Leu), cosmic curated COSV99061
- V66M (p.Val66Met), rs529478745, ClinGen CA135965777, ClinVar RCV004278154, 1000Genomes rs529478745, REVEL 0.50, CADD 25.80, Uncertain significance, not specified
- V66V (p.Val66Val), gnomAD 6-29659428-G-A, CADD 11.40
- G67R (p.Gly67Arg), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- W68R (p.Trp68Arg), Ensembl rs1767985216
- W68C (p.Trp68Cys), gnomAD 6-29659434-G-C, REVEL 0.89, CADD 31.00
- Y69* (p.Tyr69Ter), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
Public MOG analysis runs
- MOG analysis run — MOG (535 variants) — completed 2026-08-19