ABCMdb

PMID: 11264985

Lee MH, Lu K, Patel SB
Genetic basis of sitosterolemia.
Curr Opin Lipidol. 2001 Apr;12(2):141-9., [PubMed]

Sentences

No. Mutations Sentence Comment

108 ABCG5 p.Arg419His ABCG5 p.Arg419His ABCG5 p.Arg419His ABCG5 p.Arg389His ABCG5 p.Arg389His ABCG5 p.Arg389His ABCG5 p.Arg389His ABCG5 p.Arg389His ABCG5 p.Arg389His ABCG5 p.Arg419Pro ABCG5 p.Arg419Pro ABCG8 p.Gly574Glu ABCG8 p.Leu596Arg ABCG8 p.Leu596Arg ABCG8 p.Leu501Pro ABCG8 p.Pro231Thr ABCG8 p.Arg543Ser ABCG8 p.Arg263Gln ABCG8 p.Gly574Arg ABCG8 p.Gly574Arg ABCG8 p.Gly574Arg ABCG8 p.Gly574Arg ABCG8 p.Gly574Arg ABCG8 p.Gly574Arg ABCG8 p.Arg184His Mutations in ABCG5 and ABCG8 in sitosterolemia Patients Nationality/ethnicity ABCG5 ABCG8 4 US/Caucasian Arg412X Trp361X 9 US/Caucasian Arg543Ser Gln172X 56* US/Caucasian Tyr658X Trp361X 60 US/Caucasian Trp361X ± 90* US/Caucasian Trp361X Trp361X 94 US/Caucasian Trp361X Arg184His 120 US/Caucasian Leu501Pro Trp361X 125 US/Caucasian Trp361X Trp361X 128 US/Caucasian Leu596Arg ± 32 SA Caucasian Arg121X Arg121X 98 Dutch Caucasian Gly574Glu Trp361X 102* US/Caucasian Trp361X ± 135 Columbian/Caucasian Trp536X Trp536X 20 Finnish Trp361X Trp361X 116 Norwegian Trp36X Trp361X 84* US/Amish/Mennonite Gly574Arg Gly574Arg 108 US/Amish/Mennonite Gly574Arg Gly574Arg 25 SA/Asian Arg243X Arg243X 40 Japanese Arg419His Arg419His 46 Japanese Arg389His Arg389His 63 Japanese del Exon 3 del Exon 3 113 Japanese Arg389His Arg389His 132 Japanese Arg419His ± 140 Japanese Arg408X Arg408X 146 Japanese Arg389His Arg389His 157 US/Caucasian Arg419Pro Arg419Pro 15 US/Caucasian ± ± 143 SA/Indian Asian ± ± Arg121X Arg164X 149 African American Glu145Gln ± 1* German/Swiss Trp361X Trp361X 2* US/Amish Gly574Arg Gly574Arg 3* US/Caucasian Trp361X Tyr658X 5* US/Caucasian Trp361X Arg412X 6* US/Caucasian Leu596Arg ± 7 US/Hispanic Arg412X del547C4191X 8* NZ/Caucasian Trp361X ± 4 Chinese Arg263Gln Pro231Thr 9 Chinese Arg408X ± This is a compilation of the mutations identified in ABCG5 and ABCG8. Login to comment 131 ABCG5 p.Gln604Glu Polymorphisms in ABCG5 and ABCG8 Gene Amino acid changes Nucleotide changes ABCG5 Pro 9 Pro CCC4CCT Gln 604 Glu CAA4GAA ABCG8 Glu 189 Glu GAA4GAG Gln 340 Glu CAG4GAG Lys 400 Thr AAG4ACG Ala 565 Ala GCC4GCT Ala 632 Val GCC4GTC Intron 9±19C4T Intron10 2bp deletion at +35C Intron10±50C4T In12 +22C4G Polymorphic changes detected in ABCG5 and ABCG8 are as documented. Login to comment