Table 4.
The changes of hydrophobicity and phosphorylation induced by LAMA4, LMNA and RYR2 variants
| Location | 219 | 220 | 221 | 222 | 223 | 224 | 225 | 226 | 227 | 228 | 229 | 230 | 231 | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| LAMA4:NM_001105206:exon6:c.G673C:p.A225P | ||||||||||||||
| Amino acid | W | F | K | C | E | R | C | A | P | G | Y | Y | G | D |
| M | F | K | C | E | R | C | P | P | G | Y | Y | G | D | |
| Hydrophobicity | W | − 1.322 | − 0.656 | − 0.38 | − 0.48 | − 0.48 | − 0.93 | − 0.64 | − 0.97 | − 0.97 | − 0.27 | − 1.04 | − 0.74 | − 0.37 |
| M | − 1.322 | − 0.656 | − 0.76* | − 0.86* | − 0.86* | − 1.31* | − 1.02* | − 1.34* | − 1.34* | − 0.64* | − 1.42* | − 0.74 | − 0.37 | |
| Transmembrane | W | Outside | Outside | Outside | Outside | Outside | Outside | Outside | Outside | Outside | Outside | Outside | Outside | Outside |
| M | Outside | Outside | Outside | Outside | Outside | Outside | Outside | Outside | Outside | Outside | Outside | Outside | Outside | |
| Phosphorylation | W | – | – | – | – | – | – | – | – | – | – | No | – | – |
| M | – | – | – | – | – | – | – | – | – | – | Yes | – | – | |
| Location | 236 | 237 | 238 | 239 | 240 | 241 | 242 | 243 | 244 | 245 | 246 | 247 | 248 | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| LMNA: NM_001282626:exon4:c.C725T:p.A242V | ||||||||||||||
| Amino acid | W | E | F | E | S | R | L | A | D | A | L | Q | E | L |
| M | E | F | E | S | R | L | V | D | A | L | Q | E | L | |
| Hydrophobicity | W | − 2.422 | − 1.956 | − 1.32 | − 1.32 | − 0.62 | 0.19 | − 0.51 | − 0.51 | − 0.00 | − 0.00 | − 0.22 | − 0.811 | − 0.778 |
| M | − 2.422 | − 1.956 | − 1.06* | − 1.06* | − 0.36* | 0.46* | − 0.24* | − 0.24* | 0.27* | 0.27* | 0.04* | − 0.811 | − 0.778 | |
| Transmembrane | W | Outside | Outside | Outside | Outside | Outside | Outside | Outside | Outside | Outside | Outside | Outside | Outside | Outside |
| M | Outside | Outside | Outside | Outside | Outside | Outside | Outside | Outside | Outside | Outside | Outside | Outside | Outside | |
| Phosphorylation | W | – | – | – | – | – | – | – | – | – | – | – | – | – |
| M | – | – | – | – | – | – | – | – | – | – | – | – | – | |
| Location | 852 | 853 | 854 | 855 | 856 | 857 | 858 | 859 | 860 | 861 | 862 | 863 | 864 | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| RYR2: NM_001035:exon22:c.C2573T:p.T858M | ||||||||||||||
| Amino acid | W | G | P | T | V | S | L | T | Q | A | A | F | T | P |
| M | G | P | T | V | S | L | M | Q | A | A | F | T | P | |
| Hydrophobicity | W | 0.033 | 0.956 | 1.27 | 0.46 | 0.23 | 0.48 | 0.97 | 0.97 | 0.32 | 0.91 | 0.31 | 0.856 | 0.856 |
| M | 0.033 | 0.956 | 1.56* | 0.74* | 0.52* | 0.77* | 1.26* | 1.26* | 0.61* | 1.20* | 0.60* | 0.856 | 0.856 | |
| Transmembrane | W | Outside | Outside | Outside | Outside | Outside | Outside | Outside | Outside | Outside | Outside | Outside | Outside | Outside |
| M | Outside | Outside | Outside | Outside | Outside | Outside | Outside | Outside | Outside | Outside | Outside | Outside | Outside | |
| Phosphorylation | W | – | – | Yes | – | – | – | Yes | – | – | – | – | Yes | – |
| M | – | – | Yes | – | – | – | No | – | – | – | – | Yes | – | |
Bold indicates the amino acid substitutions and their changes in physical and chemical properties, induced by the variants of LAMA4 p.A225P, LMNA p.A242V and RYR2 p.T858M in this family
W, wild-type; M, mutation, *, a significant difference; –, not reported