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Table 1 MECP2 mutations targeted by TaqMan assays

From: MECP2 germline mosaicism plays an important part in the inheritance of Rett syndrome: a study of MECP2 germline mosaicism in males

Nucleotide change

Amino Acid change

SNP ID

TaqMan assay ID

c.316C > T

p.(R106W)

rs28934907

AHRSQ7K

c.397C > T

p.(R133C)

rs28934904

AHMSYIO

c.455C > G

p.(P152R)

rs61748404

AHN1WOW

c.473C > T

p.(T158M)

rs28934906

AHCTC1V

c.502C > T

p.(R168*)

rs61748421

AHD2B7P

c.880C > T

p.(R294*)

rs61751362

AHABGPF

c.916C > T

p.(R306C)

rs28935468

AHBKEVN

c.763C > T

p.(R255*)

rs61749721

C_27532119_10

c.806delG

p.(G269Afs*20)

rs61750241

AHPAUU4

c.808C > T

p.(R270*)

rs61750240

AHQJS1C

  1. Reference cDNA: NM_004992.3
  2. Reference amino acid sequence: NP_004983.1