Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24503 | 73732;73733;73734 | chr2:178572625;178572624;178572623 | chr2:179437352;179437351;179437350 |
| N2AB | 22862 | 68809;68810;68811 | chr2:178572625;178572624;178572623 | chr2:179437352;179437351;179437350 |
| N2A | 21935 | 66028;66029;66030 | chr2:178572625;178572624;178572623 | chr2:179437352;179437351;179437350 |
| N2B | 15438 | 46537;46538;46539 | chr2:178572625;178572624;178572623 | chr2:179437352;179437351;179437350 |
| Novex-1 | 15563 | 46912;46913;46914 | chr2:178572625;178572624;178572623 | chr2:179437352;179437351;179437350 |
| Novex-2 | 15630 | 47113;47114;47115 | chr2:178572625;178572624;178572623 | chr2:179437352;179437351;179437350 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/H | rs770989516  |
-1.188 | 1.0 | D | 0.75 | 0.714 | 0.359357374593 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| N/H | rs770989516 |
-1.188 | 1.0 | D | 0.75 | 0.714 | 0.359357374593 | gnomAD-4.0.0 | 1.59234E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85982E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.9961 | likely_pathogenic | 0.9963 | pathogenic | -0.532 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| N/C | 0.9683 | likely_pathogenic | 0.9748 | pathogenic | 0.052 | Stabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | N |
| N/D | 0.9912 | likely_pathogenic | 0.9902 | pathogenic | -1.097 | Destabilizing | 0.999 | D | 0.617 | neutral | D | 0.540079729 | None | None | N |
| N/E | 0.9986 | likely_pathogenic | 0.9986 | pathogenic | -1.09 | Destabilizing | 0.999 | D | 0.717 | prob.delet. | None | None | None | None | N |
| N/F | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -0.909 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| N/G | 0.9903 | likely_pathogenic | 0.9896 | pathogenic | -0.735 | Destabilizing | 0.999 | D | 0.562 | neutral | None | None | None | None | N |
| N/H | 0.9875 | likely_pathogenic | 0.988 | pathogenic | -0.855 | Destabilizing | 1.0 | D | 0.75 | deleterious | D | 0.529826287 | None | None | N |
| N/I | 0.9951 | likely_pathogenic | 0.9954 | pathogenic | -0.067 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | D | 0.541600666 | None | None | N |
| N/K | 0.9993 | likely_pathogenic | 0.9992 | pathogenic | -0.04 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | D | 0.540840198 | None | None | N |
| N/L | 0.9932 | likely_pathogenic | 0.9935 | pathogenic | -0.067 | Destabilizing | 1.0 | D | 0.738 | prob.delet. | None | None | None | None | N |
| N/M | 0.9953 | likely_pathogenic | 0.9955 | pathogenic | 0.605 | Stabilizing | 1.0 | D | 0.748 | deleterious | None | None | None | None | N |
| N/P | 0.9993 | likely_pathogenic | 0.9993 | pathogenic | -0.196 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | N |
| N/Q | 0.999 | likely_pathogenic | 0.999 | pathogenic | -0.909 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | N |
| N/R | 0.9991 | likely_pathogenic | 0.999 | pathogenic | 0.129 | Stabilizing | 1.0 | D | 0.744 | deleterious | None | None | None | None | N |
| N/S | 0.8742 | likely_pathogenic | 0.8913 | pathogenic | -0.477 | Destabilizing | 0.999 | D | 0.582 | neutral | N | 0.488209273 | None | None | N |
| N/T | 0.9687 | likely_pathogenic | 0.9723 | pathogenic | -0.334 | Destabilizing | 0.999 | D | 0.709 | prob.delet. | D | 0.528812329 | None | None | N |
| N/V | 0.9941 | likely_pathogenic | 0.9942 | pathogenic | -0.196 | Destabilizing | 1.0 | D | 0.738 | prob.delet. | None | None | None | None | N |
| N/W | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -0.806 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | N |
| N/Y | 0.9935 | likely_pathogenic | 0.9946 | pathogenic | -0.493 | Destabilizing | 1.0 | D | 0.751 | deleterious | D | 0.541347177 | 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.