Name | Nucleotide change | Amino acid change (NM_000509.4) | Amino acid change (originally described, without signal peptide) |
---|---|---|---|
Brescia [2] | c.928G > C | p.Gly310Arg | p.Gly284Arg |
c.1201C > T | p.Arg401Trp | p.Arg375Trp | |
Anger [4] | c.1115_1129delGAGTTTATTACCAAG | p.G372_Q376del | p.G346_Q350del |
AI DuPont [5] | c.1018A > C | p.Thr340pro | p.Thr314pro |
Pisa [9] | c.1024G > A | p.Asp342Asn | p.Asp316Asn |
Beograd [9] | c.1174G > A | p.Gly392Ser | p.Gly366Ser |