Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1160 | 3703;3704;3705 | chr2:178781166;178781165;178781164 | chr2:179645893;179645892;179645891 |
| N2AB | 1160 | 3703;3704;3705 | chr2:178781166;178781165;178781164 | chr2:179645893;179645892;179645891 |
| N2A | 1160 | 3703;3704;3705 | chr2:178781166;178781165;178781164 | chr2:179645893;179645892;179645891 |
| N2B | 1114 | 3565;3566;3567 | chr2:178781166;178781165;178781164 | chr2:179645893;179645892;179645891 |
| Novex-1 | 1114 | 3565;3566;3567 | chr2:178781166;178781165;178781164 | chr2:179645893;179645892;179645891 |
| Novex-2 | 1114 | 3565;3566;3567 | chr2:178781166;178781165;178781164 | chr2:179645893;179645892;179645891 |
| Novex-3 | 1160 | 3703;3704;3705 | chr2:178781166;178781165;178781164 | chr2:179645893;179645892;179645891 |
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 | None | None | 1.0 | D | 0.721 | 0.728 | 0.39162414616 | gnomAD-4.0.0 | 1.59074E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.8568E-06 | 0 | 0 |
| N/K | None | None | 1.0 | D | 0.703 | 0.447 | 0.185906805712 | gnomAD-4.0.0 | 3.18151E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85685E-06 | 0 | 3.02188E-05 |
| N/S | rs1292982774  |
-1.075 | 0.999 | D | 0.554 | 0.595 | 0.298056030225 | gnomAD-2.1.1 | 7.97E-06 | None | None | None | None | I | None | 0 | 2.89E-05 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| N/S | rs1292982774 |
-1.075 | 0.999 | D | 0.554 | 0.595 | 0.298056030225 | gnomAD-4.0.0 | 3.18154E-06 | None | None | None | None | I | None | 0 | 2.28634E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43275E-05 | 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 | 0.998 | likely_pathogenic | 0.9971 | pathogenic | -0.754 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | I |
| N/C | 0.9702 | likely_pathogenic | 0.965 | pathogenic | -0.087 | Destabilizing | 1.0 | D | 0.672 | neutral | None | None | None | None | I |
| N/D | 0.9875 | likely_pathogenic | 0.9797 | pathogenic | -1.427 | Destabilizing | 0.999 | D | 0.587 | neutral | D | 0.686690286 | None | None | I |
| N/E | 0.9986 | likely_pathogenic | 0.9984 | pathogenic | -1.279 | Destabilizing | 0.999 | D | 0.681 | prob.neutral | None | None | None | None | I |
| N/F | 0.9994 | likely_pathogenic | 0.9992 | pathogenic | -0.37 | Destabilizing | 1.0 | D | 0.72 | prob.delet. | None | None | None | None | I |
| N/G | 0.988 | likely_pathogenic | 0.9834 | pathogenic | -1.126 | Destabilizing | 0.999 | D | 0.529 | neutral | None | None | None | None | I |
| N/H | 0.9825 | likely_pathogenic | 0.9756 | pathogenic | -0.974 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | D | 0.746850526 | None | None | I |
| N/I | 0.9977 | likely_pathogenic | 0.9965 | pathogenic | 0.21 | Stabilizing | 1.0 | D | 0.7 | prob.neutral | D | 0.747576309 | None | None | I |
| N/K | 0.999 | likely_pathogenic | 0.9986 | pathogenic | -0.457 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | D | 0.745948489 | None | None | I |
| N/L | 0.9908 | likely_pathogenic | 0.9873 | pathogenic | 0.21 | Stabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | I |
| N/M | 0.9962 | likely_pathogenic | 0.9947 | pathogenic | 0.614 | Stabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | I |
| N/P | 0.9991 | likely_pathogenic | 0.9987 | pathogenic | -0.082 | Destabilizing | 1.0 | D | 0.704 | prob.neutral | None | None | None | None | I |
| N/Q | 0.9984 | likely_pathogenic | 0.998 | pathogenic | -1.025 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | I |
| N/R | 0.9985 | likely_pathogenic | 0.9981 | pathogenic | -0.62 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | I |
| N/S | 0.897 | likely_pathogenic | 0.8519 | pathogenic | -1.095 | Destabilizing | 0.999 | D | 0.554 | neutral | D | 0.537857114 | None | None | I |
| N/T | 0.9789 | likely_pathogenic | 0.9687 | pathogenic | -0.775 | Destabilizing | 0.999 | D | 0.668 | neutral | D | 0.686800609 | None | None | I |
| N/V | 0.9971 | likely_pathogenic | 0.9959 | pathogenic | -0.082 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | I |
| N/W | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -0.282 | Destabilizing | 1.0 | D | 0.671 | neutral | None | None | None | None | I |
| N/Y | 0.9936 | likely_pathogenic | 0.9901 | pathogenic | 0.011 | Stabilizing | 1.0 | D | 0.718 | prob.delet. | D | 0.689090619 | 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.