Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24301 | 73126;73127;73128 | chr2:178573231;178573230;178573229 | chr2:179437958;179437957;179437956 |
| N2AB | 22660 | 68203;68204;68205 | chr2:178573231;178573230;178573229 | chr2:179437958;179437957;179437956 |
| N2A | 21733 | 65422;65423;65424 | chr2:178573231;178573230;178573229 | chr2:179437958;179437957;179437956 |
| N2B | 15236 | 45931;45932;45933 | chr2:178573231;178573230;178573229 | chr2:179437958;179437957;179437956 |
| Novex-1 | 15361 | 46306;46307;46308 | chr2:178573231;178573230;178573229 | chr2:179437958;179437957;179437956 |
| Novex-2 | 15428 | 46507;46508;46509 | chr2:178573231;178573230;178573229 | chr2:179437958;179437957;179437956 |
| 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/S | rs1380734322  |
None | 0.999 | N | 0.585 | 0.555 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| N/S | rs1380734322 |
None | 0.999 | N | 0.585 | 0.555 | None | gnomAD-4.0.0 | 4.35736E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.95573E-06 | 0 | 0 |
| N/T | None | None | 0.999 | D | 0.71 | 0.612 | 0.49741755877 | gnomAD-4.0.0 | 6.87595E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.03081E-07 | 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 | 0.9972 | likely_pathogenic | 0.9965 | pathogenic | -0.558 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| N/C | 0.986 | likely_pathogenic | 0.9825 | pathogenic | -0.419 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | N |
| N/D | 0.9863 | likely_pathogenic | 0.9821 | pathogenic | -2.104 | Highly Destabilizing | 0.999 | D | 0.602 | neutral | D | 0.544273692 | None | None | N |
| N/E | 0.9979 | likely_pathogenic | 0.9977 | pathogenic | -1.946 | Destabilizing | 0.999 | D | 0.72 | prob.delet. | None | None | None | None | N |
| N/F | 0.9994 | likely_pathogenic | 0.9994 | pathogenic | -0.464 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| N/G | 0.991 | likely_pathogenic | 0.9891 | pathogenic | -0.876 | Destabilizing | 0.999 | D | 0.561 | neutral | None | None | None | None | N |
| N/H | 0.9861 | likely_pathogenic | 0.9846 | pathogenic | -0.631 | Destabilizing | 1.0 | D | 0.769 | deleterious | D | 0.568164846 | None | None | N |
| N/I | 0.9946 | likely_pathogenic | 0.9936 | pathogenic | 0.249 | Stabilizing | 1.0 | D | 0.783 | deleterious | D | 0.557150935 | None | None | N |
| N/K | 0.9974 | likely_pathogenic | 0.9972 | pathogenic | -0.166 | Destabilizing | 1.0 | D | 0.744 | deleterious | D | 0.567404377 | None | None | N |
| N/L | 0.9897 | likely_pathogenic | 0.9886 | pathogenic | 0.249 | Stabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| N/M | 0.9942 | likely_pathogenic | 0.9931 | pathogenic | 0.49 | Stabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| N/P | 0.9988 | likely_pathogenic | 0.9989 | pathogenic | 0.009 | Stabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| N/Q | 0.9989 | likely_pathogenic | 0.9988 | pathogenic | -1.072 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| N/R | 0.9967 | likely_pathogenic | 0.9968 | pathogenic | -0.151 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| N/S | 0.9495 | likely_pathogenic | 0.9286 | pathogenic | -0.97 | Destabilizing | 0.999 | D | 0.585 | neutral | N | 0.516886593 | None | None | N |
| N/T | 0.9743 | likely_pathogenic | 0.9675 | pathogenic | -0.658 | Destabilizing | 0.999 | D | 0.71 | prob.delet. | D | 0.530935015 | None | None | N |
| N/V | 0.9928 | likely_pathogenic | 0.9916 | pathogenic | 0.009 | Stabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | N |
| N/W | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -0.463 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| N/Y | 0.9916 | likely_pathogenic | 0.9914 | pathogenic | -0.029 | Destabilizing | 1.0 | D | 0.795 | deleterious | D | 0.568418335 | 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.