PMCCPMCCPMCC

Search tips
Search criteria 

Advanced

Logo of jexpmedHomeThis articleEditorsContactInstructions for Authors
 

Table 1.

NOTCH2 mutations identified in SMZL and MALT-L samples

First mutationSecond variationConfirmed
CohortDiseaseIdentifierGeneProteinGeneProteinConsequenceSomatic
DiscoverySMZLD-1c.6909dupCp.I2304fsX9FSYes
DiscoverySMZLD-2c.7198C>Tp.R2400XNSYes
DiscoverySMZLD-3c.7198C>Tp.R2400XNSYes
ValidationSMZLV-1c.4999G>Ap.V1667IMSYes
ValidationSMZLV-2c.6304A>Tp.K2102XNSYes
ValidationSMZLV-3c.6824C>Ap.A2275DMSYes
ValidationSMZLV-4c.6834delinsGCACGp.T2280fsX12FSYes
ValidationSMZLV-5c.6853C>Tp.Q2285XNSYes
ValidationSMZLV-6c.6853C>Tp.Q2285XNSYes
ValidationSMZLV-7c.6868G>Ap.E2290XNSN/A
ValidationSMZLV-8c.6873delGp.K2292fsX3FSYes
ValidationSMZLV-9c.6909delCp.I2304fsX2FSN/A
ValidationSMZLV-10c.6909delCp.I2304fsX2FSN/A
ValidationSMZLV-11c.6909delCp.I2304fsX2c.7072A>Gp.M2358VFS/MSN/A
ValidationSMZLV-12c.6909dupCp.I2304fsX9FSYes
ValidationSMZLV-13c.6910delinsCCCp.I2304fsX3FSYes
ValidationSMZLV-14c.6973C>Tp.Q2325XNSN/A
ValidationSMZLV-15c.7198C>Tp.R2400XNSYes
ValidationSMZLV-16c.7198C>Tp.R2400XNSYes
ValidationSMZLV-17c.7198C>Tp.R2400XNSYes
ValidationSMZLV-18c.7198C>Tp.R2400XNSYes
ValidationSMZLV-19c.7198C>Tp.R2400XNSYes
ValidationSMZLV-20c.7198C>Tp.R2400XNSYes
ValidationSMZLV-21c.7198C>Tp.R2400XNSN/A
ValidationSMZLV-22c.7231G>Tp.E2411XNSYes
SpecificityMALT-LS-1c.7198C>Tp.R2400XNSN/A

All NOTCH2 mutations identified through either whole genomic sequencing (discovery cohort) or targeted Sanger sequencing (validation and specificity cohorts) of the exonic regions of the NOTCH2 gene C terminus are shown. Where constitutional tissue was available for sequencing, somatic acquisition of each mutation was confirmed. One sample from the validation cohort of SMZL samples had two separate mutations. All other mutations were heterozygous. NS, non-sense; MS, missense; FS, frameshift. N/A indicates that constitutional tissue was not available for a given sample.