TABLE 4.
KCNH2 | |||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
302 | 303 | 304 | 305 | 306 | 307 | 308 | 309 | 310 | 311 | 312 | 313 | ||
Amino acid | WT | I | C | V | M | L | I | G | S | L | M | Y | A |
p.307_308del | I | C | V | M | L | D | ‐ | S | L | M | Y | A | |
Hydrophobicity | WT | 2.167 | 3.100(max) | 2.556 | 2.156 | 2.667 | 2.378 | 1.956 | 1.689 | 1.389 | 1.467 | 1.278 | 1.278 |
p.307_308del | 2.167 | 2.211 | 1.622 | 1.733 | 2.033 | 1.389 | ‐ | 1.311 | 0.756 | 1.044 | 0.933 | 1.278 | |
Transmembrane | WT | TMhelix | TMhelix | TMhelix | TMhelix | TMhelix | TMhelix | TMhelix | TMhelix | TMhelix | TMhelix | TMhelix | TMhelix |
p.307_308del | TMhelix | TMhelix | TMhelix | TMhelix | TMhelix | TMhelix | TMhelix | TMhelix | TMhelix | TMhelix | TMhelix | TMhelix | |
Phosphorylation | WT | Yes | |||||||||||
p.307_308del | No |
SCN5A | |||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1858 | 1859 | 1860 | 1861 | 1862 | 1864 | 1865 | 1866 | 1867 | 1868 | 1869 | 1870 | ||
Amino acid | WT | I | T | T | T | L | R | K | H | E | E | V | S |
p.R1865H | I | T | T | T | L | H | K | H | E | E | V | S | |
Hydrophobicity | WT | −0.033 | −0.111 | −0.522 | −0.878 | −0.922 | −1.989 | −2.300 | −1.756 | −1.767 | −1.989 | −1.278 | −0.311 |
p.R1865H | −0.033 | −0.111 | −0.522 | −0.733 | −0.778 | −1.844 | −2.156 | −1.611 | −1.622 | −1.844 | −1.133 | −0.311 | |
Transmembrane | WT | outside | outside | outside | outside | outside | outside | outside | outside | outside | outside | outside | outside |
p.R1865H | outside | outside | outside | outside | outside | outside | outside | outside | outside | outside | outside | outside | |
Phosphorylation | WT | Yes | Yes | ||||||||||
p.R1865H | Yes | Yes |