Hi jroc and Simply Southern,
It's difficult to work backward from the amino acid change, to the antisense mRNA codon, then to the sense DNA strand - sometimes the DNA quoted in 23andme is FWD, other times Reversed.
By convention M349V stands for M being the major allele amino acid and V the minor allele amino acid.
M349V is equivalent M=T and V=C where M and V are a.a.'s and T and C are the DNA bases quoted in Promethease.
K528R K=C and R=T
D575N D=C and N=T
R725Q R=C and Q=T
Q730E Q=C and E=G
For me Promethease gives
rs2287987 (349) T;T -> M;M
rs30187 (528) C;C -> K;K
rs10050860 (575) C;C -> D;D
rs17482078 (725) C;C -> R;R
rs27044 (730) C;C -> Q;Q
Put another way I have two allotypes MKDRQ and MKDRQ - that is two of the wild type or normal functioning ERAP1 allotypes
By the way, 23andme gives only the main nsSNPs in ERAP1 - the papers quoted give a few extras which help to delineate their 13 allotypes but not necessarily being disease causing?
