SPTB (Spectrin beta chain, erythrocytic) variants and mutations
SPTB (also known as Spectrin beta chain, erythrocytic) is a human protein-coding gene encoding a spectrin beta chain, erythrocytic protein. It contributes beta-spectrin to the red-blood-cell membrane skeleton, linking the lipid bilayer to actin and ankyrin complexes. Pathogenic variants can cause hereditary spherocytosis, elliptocytosis, or related congenital hemolytic anemia. This analysis covers 2,751 SPTB variants and mutations. Of these, 91% have computational variant effect predictions. Disease context includes hereditary elliptocytosis, hereditary spherocytosis, and Congenital hemolytic anemia. Example SPTB variants include M1?, M1I, and M1V.
Variant analysis overview
- Gene: SPTB
- Protein: Spectrin beta chain, erythrocytic
- UniProt accession: P11277
- Organism: Homo sapiens
- Variants analyzed: 2751
- Variant scope: all variants
- Completed: 2026-08-29
Variant and mutation evidence
- Variant composition: 2,751 unspecified-consequence records; 3 stop lost; 1 substitution
- Prediction scores: 2,493 variants have prediction scores (91% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: hereditary elliptocytosis, hereditary spherocytosis, Congenital hemolytic anemia, hematologic disorder, non-autoimmune hemolytic anemia, splenic disorder, Spherocytosis, immune system disorder, Pyropoikilocytosis, pyropoikilocytosis, hereditary, anemia, Chudley-McCullough syndrome.
Protein structure and variant hotspots
- Protein features: 2 domains; 11 post-translational modification sites.
- Structural context: 210 variants have structural context.
- PTM context: 10 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 SPTB variants
Examples include M1?, M1I, M1V, T2A, S3L, A4T, E6D, N9H. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1?, cosmic curated COSV67635
- M1I (p.Met1Ile), rs2503302943, ClinGen CA390038488, ClinVar RCV003480085, Conflicting interpretations, not provided
- M1V (p.Met1Val), rs121918651, ClinGen CA210952, ClinVar RCV000013693, ClinVar RCV001000731, MetaLR 0.24, MetaSVM -0.53, Pathogenic/Likely pathogenic, not specified; not provided
- T2A (p.Thr2Ala), ExAC rs750322310, gnomAD rs750322310, MetaLR 0.16, MetaSVM -0.75, Uncertain significance, Inborn genetic diseases
- S3L (p.Ser3Leu), cosmic curated COSV10532, TOPMed rs1367842585, gnomAD rs1367842585, MetaLR 0.35, MetaSVM -0.38
- A4T (p.Ala4Thr), Ensembl rs2083322460
- E6D (p.Glu6Asp), ExAC rs753928319, TOPMed rs753928319, gnomAD rs753928319, MetaLR 0.09, MetaSVM -0.97, Uncertain significance
- N9H (p.Asn9His), Ensembl rs2083322255
- N9T (p.Asn9Thr), rs138437526, ClinGen CA7231564, ClinVar RCV001329812, ClinVar RCV001753775, MetaLR 0.30, MetaSVM -0.55, Conflicting interpretations, not provided; Elliptocytosis 3
- G11S (p.Gly11Ser), Ensembl rs2083322132
- G11V (p.Gly11Val), Ensembl rs2083322090, MetaLR 0.16, MetaSVM -0.83
- P14S (p.Pro14Ser), rs147059670, ClinGen CA7231561, cosmic curated COSV67630, ClinVar RCV001726916, MetaLR 0.17, MetaSVM -0.86, Conflicting interpretations, not provided
- P15H (p.Pro15His), NCI-TCGA Cosmic COSV1010, cosmic curated COSV10107, MetaLR 0.25, MetaSVM -0.57, Variant assessed as somatic; moderate impact.
- P15R (p.Pro15Arg), rs1489551959, ClinGen CA390038394, ClinVar RCV003491583, gnomAD rs1489551959, MetaLR 0.21, MetaSVM -0.71, Uncertain significance, not provided
- P15S (p.Pro15Ser), Ensembl rs2083321814, MetaLR 0.16, MetaSVM -0.90
- S17R (p.Ser17Arg), cosmic curated COSV67633
- R18G (p.Arg18Gly), cosmic curated COSV67635
- R18K (p.Arg18Lys), cosmic curated COSV10532, ExAC rs774891298, gnomAD rs774891298, MetaLR 0.13, MetaSVM -0.90
- R18W (p.Arg18Trp), ExAC rs759868093, gnomAD rs759868093, MetaLR 0.26, MetaSVM -0.50
- I19L (p.Ile19Leu), ExAC rs771406838, TOPMed rs771406838, gnomAD rs771406838, MetaLR 0.19, MetaSVM -0.85
- I19M (p.Ile19Met), gnomAD rs1225208646, MetaLR 0.36, MetaSVM -0.33
- I19T (p.Ile19Thr), ExAC rs761373465, gnomAD rs761373465, MetaLR 0.30, MetaSVM -0.67
- N20D (p.Asn20Asp), Ensembl rs2139701546, MetaLR 0.48, MetaSVM 0.01
- N20S (p.Asn20Ser), rs1306400678, ClinGen CA390038362, ClinVar RCV003342864, gnomAD rs1306400678, MetaLR 0.27, MetaSVM -0.50, Uncertain significance, Inborn genetic diseases
- R22C (p.Arg22Cys), rs199850904, ClinVar RCV004575172, ESP rs199850904, ExAC rs199850904, MetaLR 0.62, MetaSVM 0.32, Uncertain significance, not provided
- R22G (p.Arg22Gly), ESP rs199850904, ExAC rs199850904, TOPMed rs199850904, gnomAD rs199850904, MetaLR 0.50, MetaSVM 0.04, Uncertain significance
- R22H (p.Arg22His), rs200116664, ClinGen CA7231555, ClinVar RCV003138763, ClinVar RCV004246068, MetaLR 0.48, MetaSVM -0.02, Conflicting interpretations, Inborn genetic diseases; not provided
- R22L (p.Arg22Leu), ExAC rs200116664, TOPMed rs200116664, gnomAD rs200116664, MetaLR 0.57, MetaSVM 0.21, Uncertain significance
- W23* (p.Trp23Ter), rs2503302459, ClinGen CA390038346, ClinVar RCV003489461, Likely pathogenic
- W23R (p.Trp23Arg), gnomAD rs1302184341, MetaLR 0.51, MetaSVM 0.15
- A25S (p.Ala25Ser), cosmic curated COSV67632, ExAC rs771875005, gnomAD rs771875005, MetaLR 0.11, MetaSVM -1.08
- A25T (p.Ala25Thr), ExAC rs771875005, gnomAD rs771875005, MetaLR 0.16, MetaSVM -1.02
- A25V (p.Ala25Val), ExAC rs745686199, TOPMed rs745686199, gnomAD rs745686199, MetaLR 0.17, MetaSVM -0.93
- D28E (p.Asp28Glu), cosmic curated COSV67634
- D28N (p.Asp28Asn), cosmic curated COSV67630, ESP rs369115877, ExAC rs369115877, TOPMed rs369115877, MetaLR 0.24, MetaSVM -0.73, Uncertain significance, Inborn genetic diseases
- E29* (p.Glu29Ter), rs777962458, ClinGen CA390038307, ClinVar RCV002291049, ClinVar RCV003688951, AlphaMissense 0.20, MetaLR 0.29, Pathogenic
- E29K (p.Glu29Lys), rs777962458, ClinGen CA7231547, ClinVar RCV002860728, ExAC rs777962458, AlphaMissense 0.20, MetaLR 0.29, Uncertain significance, Inborn genetic diseases
- N34S (p.Asn34Ser), ExAC rs767892082, gnomAD rs767892082, MetaLR 0.15, MetaSVM -0.96
- S35I (p.Ser35Ile), TOPMed rs2083320412, gnomAD rs2083320412, MetaLR 0.42, MetaSVM -0.07
- S35N (p.Ser35Asn), TOPMed rs2083320412, gnomAD rs2083320412, MetaLR 0.38, MetaSVM -0.17
- R38K (p.Arg38Lys), Ensembl rs2083320304, MetaLR 0.15, MetaSVM -0.88
- R38S (p.Arg38Ser), rs375967688, ESP rs375967688, ExAC rs375967688, TOPMed rs375967688, AlphaMissense 0.94, MetaLR 0.19, Variant assessed as somatic; moderate impact.
- L39F (p.Leu39Phe), rs527744961, ClinGen CA7231540, ClinVar RCV004465372, ClinVar RCV005632666, MetaLR 0.33, MetaSVM -0.33, Uncertain significance, Inborn genetic diseases; not provided
- R42T (p.Arg42Thr), TOPMed rs2083320002, MetaLR 0.40, MetaSVM -0.17
- R44Q (p.Arg44Gln), TOPMed rs1351487127, gnomAD rs1351487127, MetaLR 0.41, MetaSVM -0.06, Uncertain significance, not provided
- R44W (p.Arg44Trp), rs1228690182, NCI-TCGA Cosmic COSV1010, cosmic curated COSV10107, gnomAD rs1228690182, MetaLR 0.49, MetaSVM 0.17, Uncertain significance, not provided
- I45K (p.Ile45Lys), rs2503301932, ClinGen CA390038194, ClinVar RCV003322542, Uncertain significance, not specified
- I45L (p.Ile45Leu), ExAC rs768103906, gnomAD rs768103906, MetaLR 0.30, MetaSVM -0.40
- I45M (p.Ile45Met), TOPMed rs1024996523, gnomAD rs1024996523, MetaLR 0.37, MetaSVM -0.23
- A47T (p.Ala47Thr), TOPMed rs1336011098, MetaLR 0.15, MetaSVM -0.92
- L48S (p.Leu48Ser), cosmic curated COSV67634, MetaLR 0.50, MetaSVM 0.15
- A49V (p.Ala49Val), rs2503301874, ClinGen CA390038167, ClinVar RCV002291032, Likely pathogenic, Hereditary spherocytosis type 2
- D50E (p.Asp50Glu), gnomAD rs1566775649, MetaLR 0.14, MetaSVM -0.98
- D50G (p.Asp50Gly), TOPMed rs2082957654, MetaLR 0.25, MetaSVM -0.52
- D50Y (p.Asp50Tyr), cosmic curated COSV10107
- E51* (p.Glu51Ter), rs751809792, ClinGen CA390036260, ClinVar RCV002291059, AlphaMissense 0.91, MetaLR 0.49, Pathogenic
- E51G (p.Glu51Gly), TOPMed rs1157089669, gnomAD rs1157089669, MetaLR 0.43, MetaSVM 0.00
- E51K (p.Glu51Lys), ExAC rs751809792, AlphaMissense 0.91, MetaLR 0.49
- E51V (p.Glu51Val), TOPMed rs1157089669, gnomAD rs1157089669, MetaLR 0.40, MetaSVM -0.15
- R52G (p.Arg52Gly), rs1594796374, ClinGen CA390036248, ClinVar RCV003408549, ClinVar RCV005230501, AlphaMissense 0.95, MetaLR 0.32, Uncertain significance, not provided; SPTB-related disorder
- R52L (p.Arg52Leu), rs1452760098, ClinGen CA390036241, cosmic curated COSV10107, ClinVar RCV001002390, AlphaMissense 0.85, MetaLR 0.36, Uncertain significance, not specified; not provided
- R52Q (p.Arg52Gln), rs1452760098, ClinGen CA390036242, ClinVar RCV000756716, gnomAD rs1452760098, AlphaMissense 0.85, MetaLR 0.36, Conflicting interpretations, not provided
- R52W (p.Arg52Trp), rs1594796374, ClinGen CA390036247, cosmic curated COSV67631, ClinVar RCV001027528, AlphaMissense 0.95, MetaLR 0.32, Conflicting interpretations, not provided; Hereditary spherocytosis type 3
- E53K (p.Glu53Lys), cosmic curated COSV67630
- V54A (p.Val54Ala), cosmic curated COSV10532, MetaLR 0.04, MetaSVM -0.98
- Q56E (p.Gln56Glu), rs2503227588, ClinGen CA390036198, ClinVar RCV003416898, Uncertain significance, SPTB-related disorder
- Q56K (p.Gln56Lys), cosmic curated COSV10107
- Q56R (p.Gln56Arg), rs2503227575, ClinGen CA390036190, ClinVar RCV003491598, Uncertain significance, not provided
- K57N (p.Lys57Asn), cosmic curated COSV10470, MetaLR 0.40, MetaSVM -0.18
- K58* (p.Lys58Ter), NCI-TCGA Cosmic COSV6763, cosmic curated COSV67630, Variant assessed as somatic; high impact.
- T59A (p.Thr59Ala), TOPMed rs1594796364
- T59I (p.Thr59Ile), 1000Genomes rs191611922
- T59P (p.Thr59Pro), TOPMed rs1594796364
- F60I (p.Phe60Ile), NCI-TCGA Cosmic COSV6763, cosmic curated COSV67631, MetaLR 0.40, MetaSVM -0.23, Variant assessed as somatic; moderate impact.
- T61M (p.Thr61Met), 1000Genomes rs532240291, ExAC rs532240291, TOPMed rs532240291, gnomAD rs532240291, MetaLR 0.93, MetaSVM 1.08, Uncertain significance, not provided
- W63* (p.Trp63Ter), rs2503227366, ClinGen CA390036130, ClinVar RCV002816415, ClinVar RCV003989787, Pathogenic
- V64M (p.Val64Met), rs1428890712, ClinGen CA390036127, ClinVar RCV003138757, TOPMed rs1428890712, MetaLR 0.34, MetaSVM -0.35, Uncertain significance, not provided
- N65T (p.Asn65Thr), Ensembl rs1594796326, MetaLR 0.71, MetaSVM 0.71
- S66L (p.Ser66Leu), rs1242475998, ClinGen CA390036110, cosmic curated COSV67631, ClinVar RCV002738888, MetaLR 0.86, MetaSVM 0.86, Uncertain significance, Inborn genetic diseases
- S66W (p.Ser66Trp), TOPMed rs1242475998, gnomAD rs1242475998, MetaLR 0.93, MetaSVM 1.06, Uncertain significance
- H67P (p.His67Pro), Ensembl rs1594796304, MetaLR 0.50, MetaSVM -0.02, Uncertain significance, not provided
- H67Q (p.His67Gln), ExAC rs760171132, gnomAD rs760171132, MetaLR 0.26, MetaSVM -0.77
- L68P (p.Leu68Pro), rs2503227168, ClinGen CA390036097, ClinVar RCV002465965, Uncertain significance, not provided
- A69D (p.Ala69Asp), ExAC rs767062363, TOPMed rs767062363, gnomAD rs767062363, MetaLR 0.76, MetaSVM 0.61
- A69S (p.Ala69Ser), rs1204232304, NCI-TCGA Cosmic COSV1010, TOPMed rs1204232304, gnomAD rs1204232304, MetaLR 0.64, MetaSVM 0.04, Variant assessed as somatic; moderate impact.
- A69T (p.Ala69Thr), rs1204232304, NCI-TCGA Cosmic COSV1010, cosmic curated COSV10107, TOPMed rs1204232304, MetaLR 0.83, MetaSVM 0.78, Variant assessed as somatic; moderate impact.
- A69V (p.Ala69Val), ExAC rs767062363, TOPMed rs767062363, gnomAD rs767062363, MetaLR 0.67, MetaSVM 0.09
- R70* (p.Arg70Ter), rs1566775577, ClinGen CA390036090, NCI-TCGA Cosmic COSV1044, cosmic curated COSV10443, Pathogenic
- R70P (p.Arg70Pro), gnomAD rs1293036930, MetaLR 0.17, MetaSVM -0.85
- R70Q (p.Arg70Gln), gnomAD rs1293036930, MetaLR 0.16, MetaSVM -0.91
- V71M (p.Val71Met), 1000Genomes rs199910491, ExAC rs199910491, TOPMed rs199910491, gnomAD rs199910491, MetaLR 0.36, MetaSVM -0.25
- S72P (p.Ser72Pro), ExAC rs774078629, gnomAD rs774078629, MetaLR 0.10, MetaSVM -1.01
- C73* (p.Cys73Ter), rs2503226970, ClinGen CA390036070, ClinVar RCV002819996, Pathogenic
- R74C (p.Arg74Cys), rs575005279, ClinGen CA7231513, cosmic curated COSV10107, ClinVar RCV001508738, MetaLR 0.41, MetaSVM -0.09, Uncertain significance, not provided; Hereditary spherocytosis type 2
- R74H (p.Arg74His), rs757763783, ClinGen CA7231512, NCI-TCGA Cosmic COSV6763, cosmic curated COSV67633, MetaLR 0.12, MetaSVM -0.94, Uncertain significance, Inborn genetic diseases; not provided
- I75V (p.Ile75Val), ExAC rs769910649, gnomAD rs769910649, MetaLR 0.88, MetaSVM 0.85
- T76S (p.Thr76Ser), cosmic curated COSV67634, MetaLR 0.07, MetaSVM -1.04
- D77N (p.Asp77Asn), rs781066541, NCI-TCGA Cosmic COSV6763, cosmic curated COSV67630, ExAC rs781066541, MetaLR 0.32, MetaSVM -0.38, Variant assessed as somatic; moderate impact.
- Y79D (p.Tyr79Asp), cosmic curated COSV67633, MetaLR 0.38, MetaSVM -0.19
- K80E (p.Lys80Glu), rs747147135, ClinGen CA7231506, ClinVar RCV002261488, ClinVar RCV003365720, MetaLR 0.49, MetaSVM -0.46, Uncertain significance, not provided; Inborn genetic diseases
- K80R (p.Lys80Arg), gnomAD rs2082955374, MetaLR 0.53, MetaSVM -0.52
- D81V (p.Asp81Val), rs2503226788, ClinGen CA390036001, ClinVar RCV003718691, Uncertain significance, not provided
- R83L (p.Arg83Leu), NCI-TCGA Cosmic COSV6763, cosmic curated COSV67632, MetaLR 0.34, MetaSVM -0.34, Variant assessed as somatic; moderate impact.
- R83Q (p.Arg83Gln), rs750849788, ClinGen CA7231503, ClinVar RCV003480084, ExAC rs750849788, MetaLR 0.29, MetaSVM -0.50, Uncertain significance, not provided
- R83W (p.Arg83Trp), ExAC rs758726427, TOPMed rs758726427, gnomAD rs758726427, MetaLR 0.51, MetaSVM 0.20, Uncertain significance, Inborn genetic diseases
- G85A (p.Gly85Ala), Ensembl rs2139642651, MetaLR 0.92, MetaSVM 1.06
- R86C (p.Arg86Cys), rs1407023521, NCI-TCGA Cosmic COSV1010, cosmic curated COSV10107, gnomAD rs1407023521, MetaLR 0.28, MetaSVM -0.53, Variant assessed as somatic; moderate impact.
- R86H (p.Arg86His), rs200814297, NCI-TCGA Cosmic COSV6763, cosmic curated COSV67635, 1000Genomes rs200814297, MetaLR 0.19, MetaSVM -0.64, Uncertain significance, Elliptocytosis 3; Hereditary spherocytosis type 2; not provided
- R86L (p.Arg86Leu), 1000Genomes rs200814297, ExAC rs200814297, TOPMed rs200814297, gnomAD rs200814297, MetaLR 0.28, MetaSVM -0.54
- M87V (p.Met87Val), rs757698672, ClinGen CA7231501, ClinVar RCV003491588, ExAC rs757698672, MetaLR 0.67, MetaSVM 0.45, Uncertain significance, not provided
- L88F (p.Leu88Phe), cosmic curated COSV10892
- I89V (p.Ile89Val), TOPMed rs2082954805, MetaLR 0.31, MetaSVM -0.47
- V94G (p.Val94Gly), Ensembl rs1594796144, MetaLR 0.36, MetaSVM -0.24
- E98D (p.Glu98Asp), ExAC rs754403061, gnomAD rs754403061, MetaLR 0.16, MetaSVM -0.85
- E98Q (p.Glu98Gln), NCI-TCGA Cosmic COSV1010, cosmic curated COSV10107, MetaLR 0.16, MetaSVM -0.85, Variant assessed as somatic; moderate impact.
- M99K (p.Met99Lys), Ensembl rs2082954431, MetaLR 0.02, MetaSVM -0.94
- P101A (p.Pro101Ala), gnomAD rs1173811332, MetaLR 0.35, MetaSVM -0.38
- K102M (p.Lys102Met), gnomAD rs1468904056, MetaLR 0.44, MetaSVM -0.21
- T104S (p.Thr104Ser), ExAC rs761715254, MetaLR 0.83, MetaSVM 0.86
- K107N (p.Lys107Asn), ExAC rs768703842, TOPMed rs768703842, gnomAD rs768703842, MetaLR 0.26, MetaSVM -0.55, Uncertain significance, not provided
- K107R (p.Lys107Arg), rs376388962, ClinGen CA7231473, ClinVar RCV002929800, ClinVar RCV003491284, MetaLR 0.08, MetaSVM -1.00, Uncertain significance, Inborn genetic diseases; not provided
- R109C (p.Arg109Cys), rs139094636, ClinGen CA7231471, cosmic curated COSV67633, ClinVar RCV001508737, MetaLR 0.61, MetaSVM 0.51, Uncertain significance, not provided
- R109H (p.Arg109His), rs772172809, ClinGen CA7231469, cosmic curated COSV67629, ClinVar RCV003991918, AlphaMissense 0.97, MetaLR 0.53, Uncertain significance, Hereditary spherocytosis type 2
- R109L (p.Arg109Leu), ExAC rs772172809, TOPMed rs772172809, gnomAD rs772172809, AlphaMissense 0.97, MetaLR 0.53, Uncertain significance
- R109P (p.Arg109Pro), rs772172809, ClinGen CA390035210, ClinVar RCV003696978, AlphaMissense 0.97, MetaLR 0.53, Uncertain significance, not provided
- I110V (p.Ile110Val), rs94789, drug-response / not-provided
- C112F (p.Cys112Phe), TOPMed rs1285245929, gnomAD rs1285245929, MetaLR 0.29, MetaSVM -0.48
- C112R (p.Cys112Arg), cosmic curated COSV67630
- L113P (p.Leu113Pro), rs2503220722, ClinGen CA390035120, ClinVar RCV002967129, Uncertain significance, not provided
- E114K (p.Glu114Lys), cosmic curated COSV67634
- K118R (p.Lys118Arg), ExAC rs778131856, gnomAD rs778131856, MetaLR 0.84, MetaSVM 0.78
- A119S (p.Ala119Ser), gnomAD rs1278859505, MetaLR 0.34, MetaSVM -0.46
- L120F (p.Leu120Phe), Ensembl rs1027165019
- Q121* (p.Gln121Ter), rs2503220523, ClinGen CA390034997, ClinVar RCV003842965, Pathogenic
- L123F (p.Leu123Phe), cosmic curated COSV10470, NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- K124R (p.Lys124Arg), ExAC rs756588085, TOPMed rs756588085, gnomAD rs756588085, MetaLR 0.16, MetaSVM -1.00, Uncertain significance, not provided
- R127C (p.Arg127Cys), ESP rs371715699, ExAC rs371715699, TOPMed rs371715699, gnomAD rs371715699, MetaLR 0.39, MetaSVM -0.16
- R127H (p.Arg127His), rs779669473, NCI-TCGA Cosmic COSV6762, cosmic curated COSV67629, ExAC rs779669473, MetaLR 0.15, MetaSVM -0.91, Variant assessed as somatic; moderate impact.
- E131K (p.Glu131Lys), cosmic curated COSV67635, Uncertain significance, not provided
- M133L (p.Met133Leu), NCI-TCGA Cosmic COSV1010, cosmic curated COSV10107, MetaLR 0.04, MetaSVM -0.87, Variant assessed as somatic; moderate impact.
- M133T (p.Met133Thr), Ensembl rs897283858, MetaLR 0.18, MetaSVM -0.67
- S135Y (p.Ser135Tyr), rs2139637283, ClinGen CA390034694, ClinVar RCV001870385, ClinVar RCV005232685, AlphaMissense 0.91, MetaLR 0.38, Uncertain significance, not specified; not provided
- H136Q (p.His136Gln), 1000Genomes rs11623956, ESP rs11623956, ExAC rs11623956, TOPMed rs11623956, MetaLR 0.78, MetaSVM 0.43, Benign
- D137N (p.Asp137Asn), rs1566774323, Ensembl rs1566774323, AlphaMissense 0.93, MetaLR 0.55, Uncertain significance, not provided
- I138M (p.Ile138Met), cosmic curated COSV10107
- I138S (p.Ile138Ser), rs2082930394, ClinGen CA390034616, ClinVar RCV003491596, AlphaMissense 0.91, MetaLR 0.64, Uncertain significance, not provided
- I138T (p.Ile138Thr), rs2082930394, ClinGen CA390034619, ClinVar RCV001262268, ClinVar RCV001812264, AlphaMissense 0.91, MetaLR 0.64, Uncertain significance, not provided; Hereditary spherocytosis type 2
- G141D (p.Gly141Asp), rs2503220095, ClinGen CA390034560, ClinVar RCV002719377, Uncertain significance, Inborn genetic diseases
- N142K (p.Asn142Lys), cosmic curated COSV10972
- N142S (p.Asn142Ser), Ensembl rs2139637180, MetaLR 0.39, MetaSVM -0.19
- H143N (p.His143Asn), gnomAD rs1406317876, MetaLR 0.78, MetaSVM 0.66
- H143Q (p.His143Gln), TOPMed rs1158489255, gnomAD rs1158489255, MetaLR 0.72, MetaSVM 0.53
- R144C (p.Arg144Cys), rs547207486, ClinGen CA7231456, cosmic curated COSV67631, ClinVar RCV002261486, MetaLR 0.25, MetaSVM -0.43, Uncertain significance, not provided
- R144H (p.Arg144His), rs1245522195, NCI-TCGA Cosmic COSV1010, cosmic curated COSV10107, TOPMed rs1245522195, MetaLR 0.30, MetaSVM -0.46, Variant assessed as somatic; moderate impact.
- V146I (p.Val146Ile), NCI-TCGA Cosmic COSV6763, cosmic curated COSV67630, Variant assessed as somatic; moderate impact.
- G148D (p.Gly148Asp), rs2082929857, ClinGen CA390034446, ClinVar RCV001812430, Ensembl rs2082929857, AlphaMissense 1.00, MetaLR 0.57, Conflicting interpretations, not provided
- G148S (p.Gly148Ser), gnomAD rs1460952313, MetaLR 0.47, MetaSVM -0.01
- G148V (p.Gly148Val), rs2082929857, ClinGen CA390034441, ClinVar RCV003740538, AlphaMissense 1.00, MetaLR 0.57, Uncertain significance, not provided
- I150T (p.Ile150Thr), Ensembl rs2082929761, MetaLR 0.48, MetaSVM 0.09
- W151L (p.Trp151Leu), cosmic curated COSV10107, MetaLR 0.52, MetaSVM 0.17
- R156C (p.Arg156Cys), ExAC rs775430901, TOPMed rs775430901, gnomAD rs775430901, MetaLR 0.42, MetaSVM -0.16, Uncertain significance, not provided
- R156H (p.Arg156His), rs767566180, NCI-TCGA Cosmic COSV1010, NCI-TCGA Cosmic COSV6763, cosmic curated COSV67630, AlphaMissense 0.81, MetaLR 0.34, Uncertain significance, not provided
- R156L (p.Arg156Leu), NCI-TCGA Cosmic COSV1010, cosmic curated COSV10107, NCI-TCGA Cosmic COSV6763, Variant assessed as somatic; moderate impact.
- R156P (p.Arg156Pro), rs767566180, ClinGen CA390034260, ClinVar RCV002291041, AlphaMissense 0.81, MetaLR 0.34, Pathogenic, Hereditary spherocytosis type 2
- Q158* (p.Gln158Ter), rs2503219666, ClinGen CA390034243, ClinVar RCV002291038, ClinVar RCV003130693, Pathogenic
- D161N (p.Asp161Asn), NCI-TCGA Cosmic COSV1010, cosmic curated COSV10107, MetaLR 0.24, MetaSVM -0.68, Variant assessed as somatic; moderate impact.
- I162L (p.Ile162Leu), TOPMed rs1301821602, gnomAD rs1301821602, MetaLR 0.32, MetaSVM -0.44
- I162V (p.Ile162Val), TOPMed rs1301821602, gnomAD rs1301821602, MetaLR 0.24, MetaSVM -0.59
- V164F (p.Val164Phe), ExAC rs773327035, TOPMed rs773327035, gnomAD rs773327035, MetaLR 0.13, MetaSVM -0.98
- V164G (p.Val164Gly), Ensembl rs2082901717
- V164I (p.Val164Ile), ExAC rs773327035, TOPMed rs773327035, gnomAD rs773327035
- Q165* (p.Gln165Ter), rs2139632398, ClinGen CA390032935, ClinVar RCV002291034, AlphaMissense 0.05, MetaLR 0.03, Pathogenic
- Q165E (p.Gln165Glu), Ensembl rs2139632398
- Q165H (p.Gln165His), gnomAD rs1413773421, MetaLR 0.11, MetaSVM -0.97
- G169S (p.Gly169Ser), Ensembl rs2082901524, MetaLR 0.08, MetaSVM -1.05
- R170C (p.Arg170Cys), rs370778123, cosmic curated COSV67632, ESP rs370778123, TOPMed rs370778123, MetaLR 0.27, MetaSVM -0.44, Uncertain significance, Elliptocytosis 3; Hereditary spherocytosis type 2
- R170H (p.Arg170His), rs745450272, ClinGen CA7231422, cosmic curated COSV67631, ClinVar RCV004457873, MetaLR 0.12, MetaSVM -1.00, Uncertain significance, Inborn genetic diseases
- R170S (p.Arg170Ser), ESP rs370778123, TOPMed rs370778123, gnomAD rs370778123, MetaLR 0.09, MetaSVM -0.99
- E171K (p.Glu171Lys), cosmic curated COSV67635
- T172I (p.Thr172Ile), rs777269456, ClinGen CA7231421, ClinVar RCV003138787, ExAC rs777269456, MetaLR 0.30, MetaSVM -0.37, Uncertain significance, not provided
Public SPTB analysis runs
- SPTB analysis run — SPTB (2,751 variants) — completed 2026-08-29
- SPTB analysis run — SPTB (2,751 variants) — completed 2026-08-21