Localization of molecular defects on RhAG.
The regulator type of Rhnull is associated with 2 mutantRHAG genes (homozygote or double heterozygote). The mutations include splice site/frameshift alterations and missense mutations (gray circles). The missense changes predominantly occur within conserved Rh protein family domains (black rectangles), within membrane-spanning regions. It is thought that missense mutations affect either RhAG-RhAG associations/RhAG-Rh protein assocations, resulting in an absence of the Rh protein family from mature RBC membranes. The Rhmodphenotype is associated with missense mutations (crosshatched circles), which lead to a marked reduction of the RhAG-Rh protein complex in mature RBC membranes. The initials refer to the probands. The information used in this figure was obtained from the following: SM209; SF, JL174; AL177; YT27,175; VL174; HT 210; TT, AC22; TB174; WO210.
