Table III.
Genetic variants identified in ADCY3 gene with association to obesity and BMI.
| A, Causative variations
| |||||||
|---|---|---|---|---|---|---|---|
| Nucleotide change | Amino-acid change | Genetic location (relevant to ADCY3 gene) | Type of variant | dbSNP number | NCBI Refseq | Clinical characteristic | (Refs.) |
| c.191A>T | p.Asn64Ile | Exon 1 | Missense | rs541941351 | NM_004036.5:c.191A>T | Obesity | (13) |
| c.349T>A | p.Leu117Met | Exon 1 | Missense | NA | NM_004036.5:c.349T>A | Obesity | Present study |
| c.431G>A | p.Trp144Ter | Exon 1 | Stop-gained | rs760195447 | NM_004036.5:c.431G>A | Obesity/type II diabetes | (34) |
| c.1072-1G>A | NA | Intron 4 | Splice acceptor | NA | NM_004036.5:c.1072-1G>A | Obesity/type II diabetes | (34) |
| c.1268del | p.Val424ArgfsTer15 | Exon 6 | Frameshift | rs754914420 | NM_004036.5:c.1268del | Obesity/type II diabetes | (13,34) |
| c.1805+2T>C | NA | Exon 10 | Splice donor | rs761428196 | NM_004036.5:c.1805+2T>C | Obesity/type II diabetes | (34) |
| c.2433-1G>A | NA | Intron 13 | Splice acceptor | rs1331776405 | NM_004036.5:c.2433-1G>A | Obesity | (34) |
| c.2524_2525del | p.Met842AspfsTer31 | Exon 15 | Frameshift | rs759512660 | NM_004036.5:c.2524_2525del | Obesity/type II diabetes | (34) |
| c.2578-1G>A | NA | Intron 15 | Splice acceptor | rs1553333167 | NM_004036.5:c.2578-1G>A | Obesity | (13) |
| c.2609G>A | p.Trp870Ter | Exon16 | Stop-gained | rs763802630 | NM_004036.5:c.2609G>A | Obesity/type II diabetes | (34) |
| c.3315del | p.Ile1106SerfsTer3 | Exon 21 | Frameshift | rs1553329804 | NM_004036.5:c.3315del | Obesity | (13) |
| c.3328G>C | p.Gly1110Arg | Exon 21 | Missense | rs1292057640 | NM_004036.5:c.3328G>C | Obesity | (33) |
| c.3348AG>A | p.Phe1117SerfsTer3 | Exon 21 | Frameshift | NA | NM_004036.5:c.3348AG>A | Obesity/type II diabetes | (34) |
| c.3348_3350CTT[2] | p.Phe1118del | Exon 21 | Deletion | rs750852737 | NM_004036.3:c.3348_3350CTT[2] | Obesity | (13) |
|
| |||||||
| B, Associated SNPs
| |||||||
| Nucleotide change | Amino-acid change | Genetic location (relevant to ADCY3 gene) | Type of variant | dbSNP number | NCBI Refseq | Clinical characteristic | (Refs.) |
|
| |||||||
| c.319T>C | p.Ser107Pro | Exon 1 | SNP | rs11676272 | NM_004036.5:c.319T>C | Linked to obesity | (36) |
| c.675+9866T>C | NA | Intron 1 | SNP | rs6545814 | NM_004036.5:c.675+9866T>C | Linked to BMI | (35) |
| c.675+14467G>A | NA | Intron 1 | SNP | rs6545809 | NM_004036.5:c.675+14467 G>A | Linked to BMI | (38) |
| c.676-21389G>A | NA | Intron 1 | SNP | rs7586879 | NM_004036.5:c.676-21389G>A | Linked to BMI | (42) |
| c.676-5504C>T/G | NA | Intron 1 | SNP | rs2033655 | NM_004036.5: c.676-5504C>T/G | Linked to obesity/type II diabetes | (16) |
| c.825+8581A>G | NA | Intron 2 | SNP | rs1968482 | NM_004036.5:c.825+8581A>G | Linked to BMI | (16) |
| c.1167C>G | p.Leu389= | Exon 5 | Synonymous (SNP) | rs2241758 | NM_004036.5:c.1167C>G | Obesity | (16) |
| c.2055+270C>T | NA | Intron 11 | SNP | rs753529 | NM_004036.3:c.2055+270C>T | Linked to obesity | (15) |
| c.2578-3T>C | NA | Intron 15 | SNP | rs7604576 | NM_004036.5:c.2578-3T>C | Linked to obesity | (15) |
| c.2874A>G | p.Ser958= | Exon 17 | Synonymous (SNP) | rs1127568 | NM_004036.5:c.2871A>G | Obesity | (15) |
| g.24927427A>G | NA | Intergenic | SNP | rs10182181 | NC_000002.12:g.24927427A>G | Linked to obesity/nutrition | (32) |
| g.24935139T>C | NA | Intergenic | SNP | rs713586 | NC_000002.12:g.24935139T>C | Linked to BMI | (43) |
ADCY3, adenylate cyclase 3; NCBI, National Center for Biotechnology Information; Refseq, reference sequence; NA, not available; SNP, single nucleotide polymorphism; BMI, body mass index.