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Table 1 Germline p63 point mutations

From: ΔNp63 transcriptionally regulates ATM to control p53 Serine-15 phosphorylation

Point Mutation

Domain

Syndrome

N6H

TA2

ADULT

G76W

TA2

LMS

R204W

DBD "175"

EEC

R279H

DBD "248"

EEC

R298Q

DBD (→TA2*)

ADULT

C522W

SAM

AEC

I537T

SAM

AEC

  1. The functional domain containing each mutation site, and the developmental disorder associated with each mutant is indicated. Numbers in inverted commas ("") refer to the site of homologous hotspot mutations in p53, and TA2* refers to the activation of TA2 function by the R298Q mutation. ADULT, acro-dermato-ungual-lacrimal-tooth; LMS, limb-mammary syndrome; EEC, ectrodactyly-ectodermal dysplasia-clefting; AEC, ankyloblepharon-ectodermal dysplasia-clefting.