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 | |
| rs121907979 | 39 | Leu -> Arg | CTT -> CGT | aliphatic, hydrophobic -> positive charged, polar | |
| 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 |
