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 |
- 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.