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Table 2 BTK gene mutations in 22 XLA patients from 22 unrelated families

From: Clinical characteristics and prenatal diagnosis for 22 families in Henan Province of China with X-linked agammaglobulinemia (XLA) related to Bruton’s tyrosine kinase (BTK) gene mutations

FamilyPatientLocalizationDomainNucleotide substitutionsAmino acid changeType of mutationMother statusPedigree c
F1P1Exon 2PHc.23G > T aS8Imissense mutationNEA
F2P2Exon 2PHc.83G > AR28Hmissense mutationNEA
F3P3Exon 2PHc.112 T > C aS38Pmissense mutationNMDB
F4P4Exon 2PHc.126 T > GY42*nonsense mutationcarrierC
F5P5Exon 6THc.460 T > CC154Rmissense mutationcarrierD
F6P6Intron 6THc.520 + 5G > ASplicingSplicingNE
F7P7Exon 7Proline richc.522_523insC aP177Tfs*17FS (stop)carrierE
F8P8Exon 8SH3c.763C > TR255*nonsense mutationNMDF
F9P9Exon 10SH2c.862C > TR288Wmissense mutationcarrierD
F10P10Exon 11SH2c.922_923delGA bD308Lfs*14FS (stop)NEG
F11P11Exon 12SH2c.1060delA a bT354Pfs*49FS (stop)carrierH
F12P12Exon 13SH2c.1117C > AL373Imissense mutationcarrierI
F13P13Exon 14Kinasec.1184G > AW395*nonsense mutationNEJ
F14P14Exon 15Kinasec.1439delGG480Afs*4FS (stop)carrierC
F15P15Intron 16Kinasec.1631 + 1G > T bSplicingSplicingcarrierH
F16P16Intron 16Kinasec.1631 + 2 T > C aSplicingSplicingNEK
F17P17Exon 17Kinasec.1679delCP560Qfs*10FS (stop)carrierL
F18P18Exon 17Kinasec.1684C > T bR562Wmissense mutationcarrierM
F19P19Exon 18Kinasec.1901G > AW634*nonsense mutationcarrierC
F20P20Exon 19Kinasec.1931 T > C bF644Smissense mutationcarrierN
F21P21Deletion of exon 2 to 5 a blarge deletionlarge deletioncarrierH
F22P22Deletion of exon 6 to 10large deletionlarge deletioncarrierO
  1. FS (stop): frameshift resulting in secondary premature termination
  2. NE not examined, NMD no mutation detected
  3. a: novel mutation
  4. b:represent prenatal pedigree
  5. c: Each letter (A-O) represents a type of the pedigree. All pedigrees of the families can be found in Fig. 1
  6. *: represent the terminator