Table 1 KLF1 mutations identified in In(Lu) blood samples
Type | Nucleotide change | Exon/Intron | Predicted amino acid change | Mutation Type | Allele Name | Number of samples | Identified by | Ref/GenBank No. |
|---|---|---|---|---|---|---|---|---|
reported | c.519_525dupCGGCGCC | Exon 2 | p.Gly176Argfs*179 | Frameshift | KLF1*BGM34 | 24 | NGS 10; HiFi 11; Sanger 3 | Ref 9 |
c.199delA | Exon 2 | p.Gly68Alafs*169 | Frameshift | KLF1*BGM64 | 1 | NGS | Ref 9 | |
c.472delG | Exon 2 | p.Ala158Profs*79 | Frameshift | KLF1*BGM52 | 1 | NGS | Ref 9 | |
c.862 A > G | Exon 2 | p.Lys288Glu | Missense | KLF1*BGM37 | 1 | HiFi | Ref 9 | |
c.939G > A | Exon 3 | p.Trp313X | Stop Gain | KLF1*BGM55 | 1 | NGS | Ref 9 | |
c.947G > A | Exon 3 | p.Cys316Tyr | Missense | KLF1*BGM29 | 1 | NGS | Ref 9 | |
c.1001 C > T | Exon 3 | p.Thr334Met | Missense | KLF1*BGM48 | 2 | NGS | Ref 9 | |
c.1040 C > A; c.1045delT | Exon 3 | p.Ala347Asp; p.Ser349Argfs*358 | Missense; Frameshift | KLF1*BGM19 | 2 | NGS | Ref 9 | |
novel | c.3G > A | Exon 1 | p.Met1Ile | Start Loss | 1 | HiFi | OQ054249 | |
c.70_71delCA | Exon 1 | p.Gln24Glyfs*2 | Frameshift | 1 | NGS | OQ716571 | ||
c.87 + 12_87 + 25delAAGGTGGGGTCTAG | Intron 1 | NA | Splice Site | 1 | NGS | OR000215 | ||
c.207_217delGGACGCCACCT | Exon 2 | p.Asp70Glyfs*279 | Frameshift | 1 | HiFi | OR000213 | ||
c.406delG | Exon 2 | p.Val136Cysfs*101 | Frameshift | 2 | NGS 1; Sanger 1 | OQ716569 | ||
c.417_421delCCTGC | Exon 2 | p.Leu140Serfs*211 | Frameshift | 1 | HiFi | OQ716565 | ||
c.839delC | Exon 2 | p.Thr280Serfs*17 | Frameshift | 1 | NGS | OR000214 | ||
c.880_881insACACCAAGAGCT | Exon 2 | p.Ser293_Ser294insYTKS | Frameshift | 1 | NGS | OQ716572 | ||
c.880T > G | Exon 2 | p.Ser294Ala | Missense | 1 | NGS | OQ054248 | ||
c.895 C > G | Exon 2 | p.His299Asp | Missense | 1 | Sanger | OQ716563 | ||
c.916G > A | Exon 3 | p.Glu306Lys | Missense | 2 | NGS 1; Sanger 1 | OQ054251 | ||
c.953G > A | Exon 3 | p.Trp318X | Stop Gain | 1 | HiFi | OR000212 | ||
c.982delC | Exon 3 | p.Arg328Alafs*31 | Frameshift | 2 | NGS | OQ716568 | ||
c.982 C > T | Exon 3 | p.Arg328Cys | Missense | 1 | NGS | OQ054250 | ||
c.1010G > A | Exon 3 | p.Arg337His | Missense | 1 | HiFi | OQ054253 | ||
c.1010G > T; 1011 C > T | Exon 3 | p.Arg337Leu | Missense | 1 | NGS | OQ716566 | ||
c.1012 C > A | Exon 3 | p.Pro338Thr | Missense | 2 | NGS | OQ716564 | ||
c.1013 C > T | Exon 3 | p.Pro338Leu | Missense | 1 | HiFi | OQ054252 | ||
c.1049G > A | Exon 3 | p.Arg350His | Missense | 1 | HiFi | OQ716570 | ||
c.1058 A > G | Exon 3 | p.His353Arg | Missense | 1 | NGS | OQ716573 | ||
c.1063G > C | Exon 3 | p.Ala355Pro | Missense | 1 | NGS | OQ716567 | ||
WT | KLF1*01 | 4 | NGS 3; Sanger 1 | |||||
Total | 62 |