Pt | DNA mutation | Protein mutation | HLA-A | HLA-B | HLA-DR | HLA-DQ |
|---|
1 | del TT 443-444 | 148 Phe-Cys fsX25 | 02 | 15, 40 | 04, 13 | 03, 06 |
2 | T-C 497 | 166 Val-Ala | 02,11 | 3701, 4001 | 1001, 13 | 0501, 06 |
3 | G-T 332 | 111 Ser-Ile | 03, 29 | 14, 35 | 01, 13 | 05, 06 |
4 | C-G 343 | 115 His-Asp | 02 | 07, 40 | 1302, 1501 | ND |
5 | del C 183 | 62 Val-Cys fsX5 | 03,29 | 35, 44 | 01, 13 | 0501, 06 |
6 | ins C 346-347 | 116 Leu-Pro fsX16 | 02,31 | 40, 51 | 0404, 11 | 0301, 0302 |
- Abbreviations: del = deletion; fs = frameshift; X = stop codon; ins = insertion.
- Patient 1 had a deletion of a thymine at two nucleotides (443 and 444) that resulted in a predicted frameshift starting at codon 148 with a phenylalanine to cysteine amino acid change, extending for 23 more codons, and ending with a premature stop codon at position 172. Patient 2 had a mutation at nucleotide number 497 resulting in a change from thymine to cytosine which led to a substitution in valine to alanine at position 166. Patient 3 had a mutation at nucleotide number 332 resulting in a change from guanine to thymine that led to a substitution in serine to isoleucine at position 111. Patient 4 had a mutation at nucleotide number 343 resulting in a change from cytosine to guanine which led to a substitution from histidine to aspartic acid at position 115. Patient 5 had a deletion of a cytosine at nucleotide number 183 that resulted in a predicted frameshift starting at codon 62 with a valine to cysteine amino acid change, extending for 3 more codons, and ending with a premature stop codon at position 66. Patient 6 had an insertion of a cytosine between two nucleotides (346 and 347) that resulted in a predicted frameshift starting at codon 116 with a leucine to proline amino acid change, extending for 14 more codons, and ending with a premature stop codon at position 131.
