Table 1 Twenty variants identified by exome sequencing.
From: Identification of novel genetic loci GAL3ST4 and CHGB involved in susceptibility to leprosy
SNP | Chromosome | Position | Gene | Major/minor Allele | Nucletide change | Protein change | Results of validation |
|---|---|---|---|---|---|---|---|
rs11579366 | 1 | 145562293 | ANKRD35 | G/C | exon10: G1981C | E661Q | correct |
rs2852464 | 12 | 52710721 | KRT83 | G/C | exon5: C837G | I279M | correct |
rs17035120 | 12 | 104408794 | GLT8D2 | C/T | exon4: G109A | A37T | correct |
rs230898 | 17 | 15217437 | TEKT3 | C/G | exon6: G845C | G282A | correct |
rs910122 | 20 | 5903323 | CHGB | G/A | exon4: G533A | R178Q | correct |
rs236152 | 20 | 5903848 | CHGB | C/G | exon4: C1058G | A353G | correct |
rs34813 | 5 | 102433409 | GIN1 | G/A | exon5: C716T | T239M | correct |
rs3823646 | 7 | 99757612 | GAL3ST4 | G/A | exon4: C1400T | A467V | correct |
rs2302445 | 7 | 156761818 | NOM1 | G/A | exon10: G2336A | R779H | correct |
rs2302443 | 7 | 156762224 | NOM1 | G/C | exon11: G2410C | V804L | correct |
rs12919 | 7 | 156762248 | NOM1 | G/A | exon11: G2434A | V812M | correct |
rs1105929 | 16 | 22144318 | VWA3A | C/T | exon20: C1970T | T657I | correct |
rs2853533 | 18 | 658064 | C18orf56 | G/C | exon1: C184G | R62G | correct |
rs17014118 | 4 | 89319296 | HERC6 | T/C | exon8: T1027C | F343L | correct |
— | 11 | 6662745 | DCHS1 | −/CAG | exon2: 100insCTG | G34LG | correct |
rs79690623 | 1 | 148004781 | NBPF14 | T/C | exon22: A2533G | M845V | wrong |
rs1049254 | 16 | 88709828 | CYBA | A/G | exon6: T521C | V174A | wrong |
rs200426415 | 17 | 34587756 | TBC1D3C | T/C | exon6: A328G | M110V | wrong |
rs201473096 | 17 | 34587758 | TBC1D3C | G/A | exon6: C326T | P109L | wrong |
rs200698765 | 1 | 208272313 | PLXNA2 | A/C | exon6: T1069G | C537G | wrong |
