PMID: 20547088

Yuasa I, Umetsu K, Matsusue A, Nishimukai H, Harihara S, Fukumori Y, Saitou N, Jin F, Chattopadhyay PK, Henke L, Henke J
A Japanese-specific allele in the GALNT11 gene.
Leg Med (Tokyo). 2010 Jul;12(4):208-11., [PubMed]
Sentences
No. Mutations Sentence Comment
69 ABCC4 p.Glu757Lys
X
ABCC4 p.Glu757Lys 20547088:69:245
status: NEW
view ABCC4 p.Glu757Lys details
 Population n ABCC4 3q32 rs3765534 exon 18 c.2269 GAG>AAG FBN1 15q21.1 rs140598 exon 28 c.3442 CCC>GCC CEP152 15q21.1 rs2289178 exon 18 c.2378 AGC>ATC ZNF804B 7q21.13 rs1916830 exon 4 c.743 TGT>TAT GALNT11 7q34-q36 rs3778922 exon 5 c.589 GAT>TAT Glu757Lys Pro1148Ala Ser793Ile Cys248Tyr Asp197Tyr 1 African 68 0 0.0074 0 0.0074 0 2 German 92 0.0109 0 0 0.0054 0 3 Turk 109 0.0092 0.0092 0.0046 0.0413 0 4 Indian 107 0.0607 0.0140 0.0093 0.0935 0 5 Buryat 108 0.0833 0.4028 0.1343 0.3889 0 6 Mongolian 120 0.1292 0.3667 0.0875 0.4292 0 7 Korean (Seoul) 140 0.0893 0.2893 0.1143 0.4786 0.0036 8 Korean (Kwangju) 144 0.0903 0.2917 0.1215 0.4444 0.0174 9 Japanese (Tottori) 131 0.1412 0.2863 0.2901 0.4885 0.0763 10 Japanese (Okinawa) 88 0.2330 0.2727 0.3636 0.3523 0.1534 11 Han (Wuxi) 119 0.0420 0.2437 0.1261 0.4202 0 12 Han (Huizhou) 111 0.0541 0.2297 0.1982 0.4685 0 13 Thai 111 0.0450 0.2027 0.2162 0.3964 0 14 Columbian 93 0.0215 0.0430 0.1935 0.4140 0 African (YRI) 53-60 0 0.009 0 0.025 0 Caucasian (CEU) 53-60 0 0 0 0.017 0 Japanese (JPT) 42-45 0.2 0.393 0.4 0.489 0.114 Han Chinese (CHB) 42-45 0.067 0.214 0.133 0.433 0 particular, in Okinawa where a high frequency of 0.23 was observed. Login to comment