Positions (n,%) | Domains | Missense mutations (n) |
---|---|---|
Cytosol domains (7, 22.6%) | N-terminus | 3(p.Arg5Trp, p.Ala12Thr, p.Gly17Ser) |
TM2-TM3 loop | 2(p.Arg103Trp, p.Ser104Phe) | |
TM4-TM5 loop | 0 | |
TM6-TM7 loop | 2(p.Arg252His, p.Gly259Val) | |
TM domains (10, 32.2%) | TM1 | 2(p.Arg62His, p.Arg62Cys) |
TM2 | 1(p.Asn90Lys) | |
TM3 | 2(p.(Ile119_Phe120insIle), p.Gly123Asp) | |
TM4 | 1(p.Phe186Ser) | |
TM5 | 2(p.Tyr221Ser, p.Tyr221Cys) | |
TM6 | 2(p.Phe234Leu, p.Met241Thr) | |
TM7 | 0 | |
ER luminal domains (14, 45.2%) | TM1-TM2 loop | 4(p.Pro70Leu, p.Glu72Gln, p.Asp82His, p.Asp82Val) |
TM3-TM4 loop | 6(p.Arg136Cys, p.Arg149Cys, p.Pro159Leu, p.Leu162Arg, p.Leu169Pro, p.Tyr172Leu) | |
TM5-TM6 loop | 0 | |
C-terminus | 4(p.Pro297Thr, p.Glu298Lys, p.Pro299Leu, p.Trp300Arg) | |
Total | – | 31 |