Molecular basis of new RHD alleles described in this study
| Trivial Name . | Allele . | Nucleotide Change . | Effect on Protein Sequence . | Exons Involved . | Predicted Localization in the Cell Membrane . |
|---|---|---|---|---|---|
| Weak D type 4.1* | RHD(W16C, T201R, F223V) | G → C at 48 | Trp to Cys at 16 | 1 | TM |
| C → G at 602, | Thr to Arg at 201 | 4 | IC | ||
| T → G at 667, | Phe to Val at 223 | 5 | TM | ||
| G → A at 819 | no change | 6 | — | ||
| Weak D type 4.2.1 | RHD(T201R, F223V, I342T) | C → G at 602, | Thr to Arg at 201 | 4 | IC |
| T → G at 667, | Phe to Val at 223 | 5 | TM | ||
| G → A at 957 | no change | 6 | — | ||
| T → C at 1025 | Ile to Thr at 342 | 7 | TM | ||
| Weak D type 4.2.2 | RHD(T201R, F223V, I1342T) | C → G at 602, | Thr to Arg at 201 | 4 | IC |
| T → G at 667, | Phe to Val at 223 | 5 | TM | ||
| C → T at 744 | no change | 5 | — | ||
| G → A at 957 | no change | 6 | — | ||
| T → C at 1025 | Ile to Thr at 342 | 7 | TM | ||
| Weak D type 17 | RHD(R114W) | C → T at 340 | Arg to Trp at 114 | 3 | TM |
| DIII type IV | RHD(L62F, A137V, N152T) | G → 186 at T | Leu to Phe at 62 | 2 | TM |
| C → 410 at T | Ala to Val at 137 | 3 | TM | ||
| A → 455 at C | Asn to Thr at 152 | 3 | TM | ||
| DIM | RHD(C285Y) | G → A at 854 | Cys to Tyr at 285 | 6 | EF |
| Trivial Name . | Allele . | Nucleotide Change . | Effect on Protein Sequence . | Exons Involved . | Predicted Localization in the Cell Membrane . |
|---|---|---|---|---|---|
| Weak D type 4.1* | RHD(W16C, T201R, F223V) | G → C at 48 | Trp to Cys at 16 | 1 | TM |
| C → G at 602, | Thr to Arg at 201 | 4 | IC | ||
| T → G at 667, | Phe to Val at 223 | 5 | TM | ||
| G → A at 819 | no change | 6 | — | ||
| Weak D type 4.2.1 | RHD(T201R, F223V, I342T) | C → G at 602, | Thr to Arg at 201 | 4 | IC |
| T → G at 667, | Phe to Val at 223 | 5 | TM | ||
| G → A at 957 | no change | 6 | — | ||
| T → C at 1025 | Ile to Thr at 342 | 7 | TM | ||
| Weak D type 4.2.2 | RHD(T201R, F223V, I1342T) | C → G at 602, | Thr to Arg at 201 | 4 | IC |
| T → G at 667, | Phe to Val at 223 | 5 | TM | ||
| C → T at 744 | no change | 5 | — | ||
| G → A at 957 | no change | 6 | — | ||
| T → C at 1025 | Ile to Thr at 342 | 7 | TM | ||
| Weak D type 17 | RHD(R114W) | C → T at 340 | Arg to Trp at 114 | 3 | TM |
| DIII type IV | RHD(L62F, A137V, N152T) | G → 186 at T | Leu to Phe at 62 | 2 | TM |
| C → 410 at T | Ala to Val at 137 | 3 | TM | ||
| A → 455 at C | Asn to Thr at 152 | 3 | TM | ||
| DIM | RHD(C285Y) | G → A at 854 | Cys to Tyr at 285 | 6 | EF |
IC, intracellular; TM, transmembraneous; EF, exofacial.
Weak D type 4 with RHD(T201R, F223V) is considered prototypical for a group of RHD alleles that carry various additional missense or silent mutations or both. According to the proposed nomenclature, the original weak D type 4 allele is designated weak D type 4.0. The weak D type 4.1 sample was 1 of the 6 samples described previously (see reference 26, Table 3); the other 5 samples represent weak D type 4.0.