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Table 1 Rare variants extracted from the exome sequencing data of patient IV-4 and primer sequences for the respective variants

From: A novel nonsense variant in SLC24A4 causing a rare form of amelogenesis imperfecta in a Pakistani family

GeneChrOMIMGenBankcDNA changeAmino acid changeGenotypedbSNPMAF (gnomAD)MAF South Asian (gnomAD)PROVEANSIFTPolyphen2Mutation TasterSegregationPrimer Sequence with melting temperature
PSPH7172,480NM_004577.3c.398A > Gp.Arg133SerHomozygousrs1484699757.08e-50DeleteriousDamagingProbably DamagingDisease CausingNo56.2 °C-F-5′-CCAGGCAGTATACCTTGTCA-3′
55.4 °C-F-5′-TAGATACCAAAGCTAGGACAGG-3′
CHCHD27616,244NM_016139.2c.418G > Ap.Val140MetHomozygousNA00NeutralToleratedProbably DamagingDisease CausingNo60.2 °C-F-5′-AGCATCTGGTGCTAGTTCCATT-3′
58.6 °C-F-5′-GGCCCAGTTGTTAGGAGTTAAT-3′
BNC29608,669NM_017637.5c.2860G > Ap.Ala954ThrHomozygousrs7634877208.13e-50.0006781NeutralToleratedBenignDisease CausingNo59.4 °C-F-5′-TGCCAACATAAACCTACATCGT-3′
59.5 °C-R-5′-TCCCCTTGTTGCTGTACATTT-3′
SLC24A414609,840NM_153646.3c.1192C > Tp.Gln398*HomozygousNA00NANANANAYes55.5 °C-F-5′-CATGCAAATGTAAGTGACCA-3′
54.6 °C-R-5′-AGCTCTAACCCACAGTTCAG-3′
  1. Chr Chromosome, NA not available/applicable, MAF minor allele frequency