Seq.-based mut. analysis HEXA
From Bioinformatikpedia
Mutations
| SNP-id | codon number | mutation codon | mutation triplet | aa propensity | consequences |
| rs1800428 | 3 | Ser -> Ser | AGC -> AGT | polar, tiny, hydroxylic -> polar, tiny, hydroxylic | no consequences -> silent mutation |
| rs121907979 | 39 | Leu -> Arg | CTT -> CGT | aliphatic, hydrophobic -> positive charged, polar | Leucine is smaller and without a positive charge. Therefore, Arg is too big for the position of Leu, therefore, the change of Leu with Arg has to cause changes in the 3D structure of the protein. Otherwise, Leu is hydrophobic, whereas Arg is positively charged and polar, which is not a really big difference. Therefore, the change of Leu with Arg will cause changes in the protein, but it could be possible that the main function of the protein remains. |
| rs11551324 | 109 | Thr -> Thr | ACC -> ACT | polar, small, hydroxylic, hydrophobic -> polar, small, hydroxylic, hydrophobic | |
| rs61731240 | 179 | His -> Asp | CAT -> GAT | positive charged, polar -> negative charged, small, polar | |
| rs121907974 | 211 | Phe -> Ser | TTC -> TCC | aromatic, hydrophobic -> polar, tiny, hydroxylic | |
| rs1054374 | 293 | Ser -> Ile | AGT -> ATT | polar, tiny, hydroxylic -> aliphatic, hydrophobic | |
| rs121907967 | 329 | Trp -> TER | TGG -> TAG | aromatic, polar, hydrophobic -> TER | |
| rs121907982 | 456 | Tyr -> Ser | TAT -> TCT | aromatic, polar, hydrophobic -> polar, tiny, hydroxylic | |
| rs121907968 | 485 | Trp -> Arg | gTGG -> CGG | aromatic, polar, hydrophobic -> positive charged, polar | |
| rs4777502 | 506 | Glu -> Glu | GAG -> GAA | negative charted, polar -> negative charged, polar |
