PMID: 23066723

Hue-Roye K, Lomas-Francis C, Coghlan G, Zelinski T, Reid ME
The JR blood group system (ISBT 032): molecular characterization of three new null alleles.
Transfusion. 2012 Oct 15. doi: 10.1111/j.1537-2995.2012.03930.x., [PubMed]
Sentences
No. Mutations Sentence Comment
69 ABCG2 p.Val12Met
X
ABCG2 p.Val12Met 23066723:69:817
status: NEW
view ABCG2 p.Val12Met details
 Nucleotide and predicted amino acid changes in ABCG2 in 13 serologically defined Jr(a-) samples Proband (D/P) Ethnicity/race Anti-Jra Nucleotide change (exon) Predicted amino acid change 1 (D) Japanese No c.376C>T (4) Gln126Stop 2 (D) Unknown Unknown c.376C>T (4) Gln126Stop 3 (P) Asian Yes c.376C>T (4) Gln126Stop 4 (P) Japanese Yes c.376C>T (4) Gln126Stop 5 (D) Caucasian Yes c.376C>T (4) Gln126Stop 6 (P) Caucasian Yes c.376C>T (4) Gln126Stop 7 (P) Japanese Yes c.376C>T (4) Gln126Stop 8 (P) Chinese Yes c.376C>T (4) Gln126Stop 9 (P) Caucasian Yes c.706C>T (7) Arg236Stop 10 (P) Caucasian Yes c.706C>T (7) Arg236Stop 11 (P) Caucasian Yes c.337C/T† (4) c.736C/T (7) Arg113Stop Arg246Stop 12 (P) Caucasian Yes c.784G>T† (7) Gly262Stop 13 (P) Caucasian Yes c.1591C>T† (13) c.34G>A (2) Gln531Stop Val12 Met † Novel allele. Login to comment