Table 4.

Pleiotropic polymorphisms in the BABAM1 region that are located in exons and their predicted effect on the proteins

SNPPositionGeneNucleotide changeAmino acid changeEUR MAFSIFTPolyPhen-2
rs817019:17389636BABAM1AAG ⇒ AAAK [Lys] ⇒ K [Lys]A:0.16n.a.n.a.
rs1042593919:17389155ANKLE1GGC ⇒ GGTG [Gly] ⇒ G [Gly]T:0.16n.a.n.a.
rs1042593919:17389155ANKLE1GCT ⇒ GTTA [Ala] ⇒ V [Val]T:0.16n.a.n.a.
rs810024119:17392893ANKLE1GCG ⇒ ACGA [Ala] ⇒ T [Thr]A:0.58deleterious(0)probably_damaging (0.998)
rs810817419:17393529ANKLE1CTG ⇒ CAGL [Leu] ⇒ Q [Gln]A:0.58deleterious(0)probably_damaging (1)
rs236395619:17394123ANKLE1TTG ⇒ TGGL [Leu] ⇒ W [Trp]G:0.57deleterious(0.03)probably_damaging (0.999)
  • Abbreviation: EUR MAF, minor allele frequency in European population.