Missense nonsense HFE

From Bioinformatikpedia

Missense/nonsense mutations

Accession Number Codon change Amino acid change Codon number Phenotype
CM032270 AGGc-AGC Arg-Ser 6 Haemochromatosis
CM994469 cGTG-ATG Val-Met 53 Haemochromatosis
CM994470 cGTG-ATG Val-Met 59 Haemochromatosis
HM971246 CATg-CAC His-His 63 Haemochromatosis
CM960827 tCAT-GAT His-Asp 63 Haemochromatosis
CM990718 gAGT-TGT Ser-Cys 65 Haemochromatosis
CM033969 tCGC-TGC Arg-Cys 66 Altered iron status
CM020721 cCGA-TGA Arg-Term 71 Haemochromatosis
CM990719 aGGG-CGG Gly-Arg 93 Haemochromatosis
CM990720 ATT-ACT Ile-Thr 105 Haemochromatosis
CM990721 CAAg-CAC Gln-His 127 Haemochromatosis
CM004810 gGAG-CAG Glu-Gln 168 Haemochromatosis
CM004106 gGAG-TAG Glu-Term 168 Haemochromatosis
CM004107 TGG-TAG Trp-Term 169 Haemochromatosis
CM015326 GCC-GTC Ala-Val 176 Haemochromatosis
CM081301 CTG-CCG Leu-Pro 183 Haemochromatosis
CM034097 CGG-CAG Arg-Gln 224 Altered iron status
CM024530 tGTA-TTA Val-Leu 272 Haemochromatosis
CM994771 aGAG-AAG Glu-Lys 277 Diabetes
CM960828 TGC-TAC Cys-Tyr 282 Haemochromatosis, association with
CM004391 TGC-TCC Cys-Ser 282 Haemochromatosis
CM032271 CAG-CCG Gln-Pro 283 Haemochromatosis
HM030028 GTG-GCG Val-Ala 295 Haemochromatosis
CM990722 AGG-ATG Arg-Met 330 Haemochromatosis

There are 24 public available reports and 12 additional reports, 18 additional phenotype reports and one functional characterisation reports available to subscribers