Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31692 | 95299;95300;95301 | chr2:178546257;178546256;178546255 | chr2:179410984;179410983;179410982 |
| N2AB | 30051 | 90376;90377;90378 | chr2:178546257;178546256;178546255 | chr2:179410984;179410983;179410982 |
| N2A | 29124 | 87595;87596;87597 | chr2:178546257;178546256;178546255 | chr2:179410984;179410983;179410982 |
| N2B | 22627 | 68104;68105;68106 | chr2:178546257;178546256;178546255 | chr2:179410984;179410983;179410982 |
| Novex-1 | 22752 | 68479;68480;68481 | chr2:178546257;178546256;178546255 | chr2:179410984;179410983;179410982 |
| Novex-2 | 22819 | 68680;68681;68682 | chr2:178546257;178546256;178546255 | chr2:179410984;179410983;179410982 |
| 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/K | rs769796501  |
-0.237 | 1.0 | D | 0.727 | 0.616 | 0.233785782151 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| N/K | rs769796501 |
-0.237 | 1.0 | D | 0.727 | 0.616 | 0.233785782151 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07125E-04 | 0 |
| N/K | rs769796501 |
-0.237 | 1.0 | D | 0.727 | 0.616 | 0.233785782151 | gnomAD-4.0.0 | 2.47937E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 4.393E-05 | 0 |
| N/T | rs772560479 |
-0.493 | 0.999 | N | 0.699 | 0.733 | 0.39724302092 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| N/Y | None | None | 1.0 | D | 0.721 | 0.692 | 0.58411752329 | gnomAD-4.0.0 | 1.59235E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86138E-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 | 0.9979 | likely_pathogenic | 0.9988 | pathogenic | -0.679 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | I |
| N/C | 0.9823 | likely_pathogenic | 0.9898 | pathogenic | 0.132 | Stabilizing | 1.0 | D | 0.699 | prob.neutral | None | None | None | None | I |
| N/D | 0.9938 | likely_pathogenic | 0.9961 | pathogenic | -0.803 | Destabilizing | 0.999 | D | 0.609 | neutral | D | 0.525431741 | None | None | I |
| N/E | 0.9988 | likely_pathogenic | 0.9989 | pathogenic | -0.794 | Destabilizing | 0.999 | D | 0.709 | prob.delet. | None | None | None | None | I |
| N/F | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -0.922 | Destabilizing | 1.0 | D | 0.73 | prob.delet. | None | None | None | None | I |
| N/G | 0.9943 | likely_pathogenic | 0.9962 | pathogenic | -0.908 | Destabilizing | 0.999 | D | 0.562 | neutral | None | None | None | None | I |
| N/H | 0.9892 | likely_pathogenic | 0.9931 | pathogenic | -0.997 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | D | 0.533447138 | None | None | I |
| N/I | 0.9972 | likely_pathogenic | 0.9979 | pathogenic | -0.139 | Destabilizing | 1.0 | D | 0.698 | prob.neutral | D | 0.533700628 | None | None | I |
| N/K | 0.9995 | likely_pathogenic | 0.9996 | pathogenic | -0.137 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | D | 0.544296465 | None | None | I |
| N/L | 0.9932 | likely_pathogenic | 0.9955 | pathogenic | -0.139 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | None | None | None | None | I |
| N/M | 0.9951 | likely_pathogenic | 0.9965 | pathogenic | 0.548 | Stabilizing | 1.0 | D | 0.724 | prob.delet. | None | None | None | None | I |
| N/P | 0.9993 | likely_pathogenic | 0.9995 | pathogenic | -0.293 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | None | None | None | None | I |
| N/Q | 0.9991 | likely_pathogenic | 0.9994 | pathogenic | -0.873 | Destabilizing | 1.0 | D | 0.724 | prob.delet. | None | None | None | None | I |
| N/R | 0.9992 | likely_pathogenic | 0.9994 | pathogenic | -0.026 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | I |
| N/S | 0.9367 | likely_pathogenic | 0.9699 | pathogenic | -0.535 | Destabilizing | 0.999 | D | 0.577 | neutral | N | 0.493311381 | None | None | I |
| N/T | 0.9814 | likely_pathogenic | 0.9896 | pathogenic | -0.377 | Destabilizing | 0.999 | D | 0.699 | prob.neutral | N | 0.520912291 | None | None | I |
| N/V | 0.9965 | likely_pathogenic | 0.9975 | pathogenic | -0.293 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | I |
| N/W | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -0.779 | Destabilizing | 1.0 | D | 0.7 | prob.neutral | None | None | None | None | I |
| N/Y | 0.9947 | likely_pathogenic | 0.996 | pathogenic | -0.525 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | D | 0.533447138 | 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.