Scianna blood group locus
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Introduction
ERMAP is responsible for the Scianna/Radin blood group system consisting of 7 different antigens. The Sc1 & Sc2 antigens result from a single variation in position 57; Arg-57 corresponds to the Sc2 antigen & Gly-57 to the Sc1 antigen. The Sc2 antigen is rare (< 1%); Sc1 is more frequent. Sc3 represents individuals homozygous for a null allele encoding a truncated protein lacking its extracellular part (Sc-3). The Sc4 antigen corresponeds to the Radin blood group antigen. It is due to a single variation in position 60; Ala-60 corresponds to Sc4/Rd(+), the antigenic form of the protein. Sc4 is found in < 1% of the population. Sc5/STAR, Sc6/SCER & Sc7/SCAN antigens are due to single variations in positions 47, 81 & 35 respectively.
Pathology
- alloantibodies to the low frequency Sc2 & Sc4 antigens are a cause of hemolytic disease in the newborn
More general terms
References
- ↑ OMIM https://mirror.omim.org/entry/111750
- ↑ UniProt http://www.uniprot.org/uniprot/Q96PL5.html
- ↑ Blood group antigen gene mutation database http://www.ncbi.nlm.nih.gov/projects/mhc/xslcgi.fcgi?cmd=bgmut/systems_info&system=scianna