ABCMdb

PMID: 22124177

Chauvet C, Menard A, Xiao C, Aguila B, Blain M, Roy J, Deng AY
Novel genes as primary triggers for polygenic hypertension.
J Hypertens. 2012 Jan;30(1):81-6., [PubMed]

Sentences

No. Mutations Sentence Comment

43 ABCA1 p.Ala374Gly ATP-binding cassette, subfamily A (ABC1), member 8a (Abca8a) is a candidate for C10QTL2 The gene carries a mutation that transforms valine to isoleucine at the # 2932 coding nucleotide (Table 3 and 82 Journal of Hypertension 2012, Vol 30 No 1 Table 1 Mutation screening of genes in the C10QTL5-containing interval Gene Genomic start position Genomic end position #of exons Size of codons (bp) Mutation Lewis/ DSS Exon # Change in amino acid Lewis/DSS LOC689568 15 587 129 15 598 457 2 555 No rno-mir-21 15 863 705 15 863 795 No Tmem49 15 864 328 15 963 363 11 1221 G1101A No Ptrh2 15 963 619 15 973 650 1 546 No Cltc 15 976 030 16 031 734 31 5028 No Dhx40 16 042 910 16 079 838 18 2340 C930T No RGD1311564 16 208 978 16 263 148 4 513 No Gdpd1 16 299 664 16 344 248 10 945 C327T No A374G 5 Lys125Arg RGD1306862 16 347 133 16 356 149 4 2976 C1605T No Prr11 16 362 111 16 381 719 9 1107 2 Ala80Thr G238A 4 Leu193Pro T578C Genes are defined by the congenic strain C10S.L29 (Supplement 30, http://links.lww.com/HJH/A137). Login to comment 49 ABCA1 p.Trp449Gly ABCA1 p.Trp449Gly of exons Size of codons (bp) Mutation Lewis/DSS Exon # Change in amino acid Lewis/DSS Ppm1e 16 515 911 16 673 657 7 2253 C335G 1 Pro112Arg Rad51c 16 691 410 16 717 574 9 1101 No Tex14 16 741 622 16 844 002 30 4335 C141G No G2592A No T3423C No C4215T No Loc689764 16 855 064 16 867 521 5 1587 G627A 2 Pro210Ser C628T 4 Trp448Gly T1342G 4 Trp449Gly G1344D 4 Trp449Gly T1345D Sept4 16 870 627 16 880 083 9 939 No Mtmr4 16 882 731 16 905 645 18 3576 A357G 15 No A2212G Ser738Gly A2640G No Rnf43 16 956 997 17 026 597 9 2349 A1103G 8 Gln368Arg Supt4h1 17 030 011 17 036 193 5 353 No Rno-mir142 17 048 485 17 048 571 No Loc100363076 17 048 316 17 048 912 1 314 No Bzrap1 17 052 666 17 073 840 31 5539 A4664G 22 His1555Arg T5060C 25 Ile1687Thr Mpo 17 085 077 17 096 217 8 1376 No Genes are defined by the congenic strain C10S.L30 (Supplement 30, http://links.lww.com/HJH/A137). Login to comment 125 ABCA1 p.Val977Ile 85 Table 4 Mutation screening of genes in the C10QTL2-containing interval Gene Genomic start position Genomic end position # of exons Size of codons (bp) Mutation detected Lewis/DSS Exon # Change in amino acid (AA) Lewis/DSS Abca8a 763 414 829 442 38 4851 G2932A 21 Val977Ile G2958A No Abca9 843 881 904 948 38 4701 Abca6 911 661 978 942 38 4875 No Abca5 1 010 062 1 070 157 39 4929 No Genes are defined by the congenic strains (Supplement 30, http://links.lww.com/HJH/A137). Login to comment