Table 1.

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  — 
  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  — 
  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.

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