Gene Position | Nucleotide | Protein Position | Amino Acid Variant | Frequency | Reference | ||
---|---|---|---|---|---|---|---|
Major | Position | Minor | |||||
Exon 3 | G299A | IL1 | Arg | 121 | Gln | G = 0.995, A = 0.005 | Iwasa et al., 2001 |
Exon 5 | G223A | TM4 | Val | 244 | Ile | G = 0.99, A = 0.01 | Blakely Lab |
Exon 6 | A258C | EL3 | Asn | 292 | Thr | A = 0.90, C = 0.10 | Halushka et al., 1999 |
Exon 8 | G193C | TM7 | Val | 356 | Leu | G = 0.90, C = 0.10 | Halushka et al., 1999 |
Exon 8 | G232C | EL4 | Ala | 369 | Pro | G = 0.95, C = 0.05 | Halushka et al., 1999 |
Exon 8 | A251G | EL4 | Asn | 375 | Ser | A = 0.90, G = 0.10 | Halushka et al., 1999 |
Exon 10 | A256G | EL5 | Lys | 463 | Arg | A = 0.90, G = 0.10 | Halushka et al., 1999 |
Exon 12 | T233G | TM11 | Phe | 528 | Cys | T = 0.90, G = 0.10 | Halushka et al., 1999 |
Exon 13 | T776C | EL6 | Tyr | 548 | His | T = 0.90, G = 0.10 | Halushka et al., 1999 |
Exon 13 | T780C | EL6 | Ile | 549 | Thr | T = 0.99, C = 0.03 | dbSNP |
IL, intracellular loop; EL, extracellular loop; TM, transmembrane domain (as predicted by Pacholczyk et al., 1991).