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