Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3940 | 12043;12044;12045 | chr2:178741415;178741414;178741413 | chr2:179606142;179606141;179606140 |
| N2AB | 3623 | 11092;11093;11094 | chr2:178741415;178741414;178741413 | chr2:179606142;179606141;179606140 |
| N2A | None | None | chr2:None | chr2:None |
| N2B | 3577 | 10954;10955;10956 | chr2:178741415;178741414;178741413 | chr2:179606142;179606141;179606140 |
| Novex-1 | 3702 | 11329;11330;11331 | chr2:178741415;178741414;178741413 | chr2:179606142;179606141;179606140 |
| Novex-2 | 3769 | 11530;11531;11532 | chr2:178741415;178741414;178741413 | chr2:179606142;179606141;179606140 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/L | rs1170680046  |
-2.051 | 0.999 | D | 0.67 | 0.804 | None | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| F/L | rs1170680046 |
-2.051 | 0.999 | D | 0.67 | 0.804 | None | gnomAD-4.0.0 | 1.59107E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77269E-05 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.9847 | likely_pathogenic | 0.9819 | pathogenic | -3.196 | Highly Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| F/C | 0.9319 | likely_pathogenic | 0.9268 | pathogenic | -1.872 | Destabilizing | 1.0 | D | 0.854 | deleterious | D | 0.791512631 | None | None | N |
| F/D | 0.9947 | likely_pathogenic | 0.9934 | pathogenic | -3.074 | Highly Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| F/E | 0.9955 | likely_pathogenic | 0.9945 | pathogenic | -2.956 | Highly Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | N |
| F/G | 0.9928 | likely_pathogenic | 0.9901 | pathogenic | -3.567 | Highly Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| F/H | 0.9663 | likely_pathogenic | 0.9602 | pathogenic | -1.846 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | N |
| F/I | 0.6152 | likely_pathogenic | 0.616 | pathogenic | -2.002 | Highly Destabilizing | 1.0 | D | 0.772 | deleterious | D | 0.569667167 | None | None | N |
| F/K | 0.9938 | likely_pathogenic | 0.9926 | pathogenic | -1.973 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| F/L | 0.9622 | likely_pathogenic | 0.9623 | pathogenic | -2.002 | Highly Destabilizing | 0.999 | D | 0.67 | neutral | D | 0.643652754 | None | None | N |
| F/M | 0.9213 | likely_pathogenic | 0.9176 | pathogenic | -1.599 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | N |
| F/N | 0.9842 | likely_pathogenic | 0.9804 | pathogenic | -2.127 | Highly Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | N |
| F/P | 0.9961 | likely_pathogenic | 0.9955 | pathogenic | -2.407 | Highly Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| F/Q | 0.9921 | likely_pathogenic | 0.9907 | pathogenic | -2.278 | Highly Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| F/R | 0.9849 | likely_pathogenic | 0.9821 | pathogenic | -1.165 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| F/S | 0.9772 | likely_pathogenic | 0.9704 | pathogenic | -2.822 | Highly Destabilizing | 1.0 | D | 0.851 | deleterious | D | 0.791101806 | None | None | N |
| F/T | 0.9824 | likely_pathogenic | 0.9777 | pathogenic | -2.612 | Highly Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| F/V | 0.7527 | likely_pathogenic | 0.7438 | pathogenic | -2.407 | Highly Destabilizing | 1.0 | D | 0.748 | deleterious | D | 0.634182678 | None | None | N |
| F/W | 0.8963 | likely_pathogenic | 0.8764 | pathogenic | -0.894 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| F/Y | 0.5794 | likely_pathogenic | 0.5588 | ambiguous | -1.257 | Destabilizing | 0.999 | D | 0.6 | neutral | D | 0.791165501 | None | None | N |
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.