P2rx7^rs48804829-T

The T variant of SNP rs48804829 at coding nucleotide 1352 codes for a leucine at codon 451 which yields a peptide with severely reduced activity. This variant is found in AKR/J, C3H/HeJ, C57BL/6, C57BL/10, CBA/J, DBA/1, DBA/2, FVB/NJ, and NZO/HILtJ. The wild-type C variant, coding for proline, is found in 129P2/OlaHsd, 129S1/SvImJ, 129S5SvEvBrd, A/J, BALB/c, CAST/EiJ ,NZW, LP/J, NOD/ShiLtJ, PWK/PhJ, WSB/EiJ, Mus caroli, M. spretus, M. musculus, and M. poschiavinus. The mutation lies within a C-terminal cytoplasmic domain homologous with the TNFR 1-death domain and with an SH3 binding protein. (J:79540)