Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21878 | 65857;65858;65859 | chr2:178583171;178583170;178583169 | chr2:179447898;179447897;179447896 |
| N2AB | 20237 | 60934;60935;60936 | chr2:178583171;178583170;178583169 | chr2:179447898;179447897;179447896 |
| N2A | 19310 | 58153;58154;58155 | chr2:178583171;178583170;178583169 | chr2:179447898;179447897;179447896 |
| N2B | 12813 | 38662;38663;38664 | chr2:178583171;178583170;178583169 | chr2:179447898;179447897;179447896 |
| Novex-1 | 12938 | 39037;39038;39039 | chr2:178583171;178583170;178583169 | chr2:179447898;179447897;179447896 |
| Novex-2 | 13005 | 39238;39239;39240 | chr2:178583171;178583170;178583169 | chr2:179447898;179447897;179447896 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
Reported SAVs
| SNV | RS | DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | rs767001973  |
-0.425 | 1.0 | D | 0.775 | 0.803 | 0.694693139321 | gnomAD-2.1.1 | 4.06E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.01E-06 | 0 |
| G/A | rs767001973 |
-0.425 | 1.0 | D | 0.775 | 0.803 | 0.694693139321 | gnomAD-4.0.0 | 9.59137E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.53408E-05 | None | 0 | 0 | 1.17046E-05 | 0 | 0 |
Saturation Mutagenesis
SAV |
AlphaMissense (IC) |
AlphaMissense Class (IC) |
AlphaMissense (N2AB) |
AlphaMissense Class (N2AB) |
mCSM |
mCSM class |
PolyPhen-2 |
PolyPhen-2 Class |
Rhapsody |
Rhapsody Class |
Condel |
Condel Score |
Site annotation |
mCSM PPI |
Predicted PPI site |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.7868 | likely_pathogenic | 0.7554 | pathogenic | -0.299 | Destabilizing | 1.0 | D | 0.775 | deleterious | D | 0.610128253 | None | None | I |
| G/C | 0.8897 | likely_pathogenic | 0.8705 | pathogenic | -0.853 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | I |
| G/D | 0.8008 | likely_pathogenic | 0.7946 | pathogenic | -0.615 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | I |
| G/E | 0.8886 | likely_pathogenic | 0.8807 | pathogenic | -0.786 | Destabilizing | 1.0 | D | 0.835 | deleterious | D | 0.578534218 | None | None | I |
| G/F | 0.9839 | likely_pathogenic | 0.9813 | pathogenic | -1.099 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | I |
| G/H | 0.9471 | likely_pathogenic | 0.9396 | pathogenic | -0.513 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | I |
| G/I | 0.99 | likely_pathogenic | 0.9871 | pathogenic | -0.481 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | I |
| G/K | 0.9347 | likely_pathogenic | 0.9342 | pathogenic | -0.701 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | I |
| G/L | 0.9702 | likely_pathogenic | 0.9639 | pathogenic | -0.481 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | I |
| G/M | 0.9764 | likely_pathogenic | 0.9705 | pathogenic | -0.409 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | I |
| G/N | 0.7854 | likely_pathogenic | 0.7695 | pathogenic | -0.391 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | I |
| G/P | 0.9981 | likely_pathogenic | 0.9971 | pathogenic | -0.389 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | I |
| G/Q | 0.8891 | likely_pathogenic | 0.8782 | pathogenic | -0.712 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | I |
| G/R | 0.8905 | likely_pathogenic | 0.8787 | pathogenic | -0.238 | Destabilizing | 1.0 | D | 0.855 | deleterious | D | 0.587577921 | None | None | I |
| G/S | 0.564 | ambiguous | 0.517 | ambiguous | -0.524 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | I |
| G/T | 0.9156 | likely_pathogenic | 0.8984 | pathogenic | -0.63 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | I |
| G/V | 0.9746 | likely_pathogenic | 0.9686 | pathogenic | -0.389 | Destabilizing | 1.0 | D | 0.817 | deleterious | D | 0.636069973 | None | None | I |
| G/W | 0.9708 | likely_pathogenic | 0.967 | pathogenic | -1.226 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | I |
| G/Y | 0.9705 | likely_pathogenic | 0.9664 | pathogenic | -0.875 | Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | I |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.