P2rx7^rs48804829-C

The C variant of SNP rs48804829 at coding nucleotide 1352 codes for a proline at codon 451 which yields a fully functional peptide. This variant 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 deleterious T variant, coding for leucine, is found in AKR/J, C3H/HeJ, C57BL/6, C57BL/10, CBA/J, DBA/1, DBA/2, FVB/NJ, and NZO/HILtJ. The mutation lies within a C-terminal cytoplasmic domain homologous with the TNFR 1-death domain and with an SH3 binding protein. (J:79540)