ABCA1 p.Ala374Gly
| Predicted by SNAP2: | C: N (53%), D: D (53%), E: N (53%), F: D (66%), G: N (87%), H: N (53%), I: N (72%), K: N (57%), L: N (66%), M: D (63%), N: N (72%), P: N (53%), Q: N (72%), R: N (82%), S: N (93%), T: N (82%), V: N (78%), W: D (80%), Y: D (66%), |
| Predicted by PROVEAN: | C: N, D: N, E: N, F: D, G: N, H: N, I: D, K: N, L: D, M: N, N: N, P: N, Q: N, R: N, S: N, T: N, V: N, W: D, Y: D, |
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[hide] Novel genes as primary triggers for polygenic hype... J Hypertens. 2012 Jan;30(1):81-6. 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., [PMID:22124177]
Abstract [show]
OBJECTIVES: The discovery of causative genes leading to hypertension in animal models can reveal new mechanistic insights into blood pressure (BP) regulations. Previously, we isolated segments that harbor BP quantitative trait loci (QTLs) on rat chromosome 10 as defined by congenic strains made from crosses of inbred hypertensive Dahl salt-sensitive (DSS) and normotensive Lewis rats. The aim of the current study was to identify hypertension-causing genes for each QTL. METHODS: Molecular analysis was performed. RESULTS: A systematic and comprehensive molecular analysis divulged particular genes that carry nonconserved mutations. Specifically, the proline rich 11 gene is likely responsible for C10QTL5. C10QTL1 is one of five genes, namely Benzodiazepine receptor associated protein 1, Loc689764, myotubularin related protein 4, protein phosphatase 1E, PP2C domain containing and ring finger protein 43. Loc100363423 with no known function is a candidate for C10QTL3. The ATP-binding cassette, subfamily A (ABC1), member 8a gene is probably responsible for C10QTL2. CONCLUSIONS: Primary genes initiating polygenic hypertension are those not known to be involved in BP modulation. Novel pathways towards BP homeostasis appear to underlie the functionality of C10QTL5, C10QTL1 and C10QTL3 and C10QTL2. Moreover, these genes may become innovative targets for the diagnosis and therapeutics of essential hypertension.
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No. Sentence Comment
43 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).
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ABCA1 p.Ala374Gly 22124177:43:781
status: NEW