Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28434 | 85525;85526;85527 | chr2:178560832;178560831;178560830 | chr2:179425559;179425558;179425557 |
| N2AB | 26793 | 80602;80603;80604 | chr2:178560832;178560831;178560830 | chr2:179425559;179425558;179425557 |
| N2A | 25866 | 77821;77822;77823 | chr2:178560832;178560831;178560830 | chr2:179425559;179425558;179425557 |
| N2B | 19369 | 58330;58331;58332 | chr2:178560832;178560831;178560830 | chr2:179425559;179425558;179425557 |
| Novex-1 | 19494 | 58705;58706;58707 | chr2:178560832;178560831;178560830 | chr2:179425559;179425558;179425557 |
| Novex-2 | 19561 | 58906;58907;58908 | chr2:178560832;178560831;178560830 | chr2:179425559;179425558;179425557 |
| 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/T | rs758519100  |
-0.477 | 0.999 | D | 0.683 | 0.696 | 0.518752145996 | gnomAD-2.1.1 | 7.15E-06 | None | None | None | None | I | None | 8.27E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| N/T | rs758519100 |
-0.477 | 0.999 | D | 0.683 | 0.696 | 0.518752145996 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | I | None | 7.24E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| N/T | rs758519100 |
-0.477 | 0.999 | D | 0.683 | 0.696 | 0.518752145996 | gnomAD-4.0.0 | 5.0747E-06 | None | None | None | None | I | None | 8.73515E-05 | 0 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.9978 | likely_pathogenic | 0.9967 | pathogenic | -0.699 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | I |
| N/C | 0.9799 | likely_pathogenic | 0.9757 | pathogenic | 0.083 | Stabilizing | 1.0 | D | 0.674 | neutral | None | None | None | None | I |
| N/D | 0.9914 | likely_pathogenic | 0.9899 | pathogenic | -0.858 | Destabilizing | 0.999 | D | 0.579 | neutral | D | 0.546498511 | None | None | I |
| N/E | 0.9983 | likely_pathogenic | 0.9981 | pathogenic | -0.824 | Destabilizing | 0.999 | D | 0.694 | prob.neutral | None | None | None | None | I |
| N/F | 0.9995 | likely_pathogenic | 0.9994 | pathogenic | -0.789 | Destabilizing | 1.0 | D | 0.728 | prob.delet. | None | None | None | None | I |
| N/G | 0.9915 | likely_pathogenic | 0.9885 | pathogenic | -0.966 | Destabilizing | 0.999 | D | 0.519 | neutral | None | None | None | None | I |
| N/H | 0.9866 | likely_pathogenic | 0.9829 | pathogenic | -0.978 | Destabilizing | 1.0 | D | 0.742 | deleterious | D | 0.536245069 | None | None | I |
| N/I | 0.995 | likely_pathogenic | 0.9933 | pathogenic | -0.047 | Destabilizing | 1.0 | D | 0.714 | prob.delet. | D | 0.548019448 | None | None | I |
| N/K | 0.9992 | likely_pathogenic | 0.9991 | pathogenic | -0.251 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | D | 0.547258979 | None | None | I |
| N/L | 0.9908 | likely_pathogenic | 0.9873 | pathogenic | -0.047 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | I |
| N/M | 0.9941 | likely_pathogenic | 0.9918 | pathogenic | 0.59 | Stabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | I |
| N/P | 0.999 | likely_pathogenic | 0.9988 | pathogenic | -0.236 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | I |
| N/Q | 0.9989 | likely_pathogenic | 0.9987 | pathogenic | -0.974 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | I |
| N/R | 0.9987 | likely_pathogenic | 0.9985 | pathogenic | -0.18 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | I |
| N/S | 0.9309 | likely_pathogenic | 0.9038 | pathogenic | -0.71 | Destabilizing | 0.999 | D | 0.541 | neutral | N | 0.504503103 | None | None | I |
| N/T | 0.9738 | likely_pathogenic | 0.9664 | pathogenic | -0.516 | Destabilizing | 0.999 | D | 0.683 | prob.neutral | D | 0.546752 | None | None | I |
| N/V | 0.9937 | likely_pathogenic | 0.9916 | pathogenic | -0.236 | Destabilizing | 1.0 | D | 0.728 | prob.delet. | None | None | None | None | I |
| N/W | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -0.63 | Destabilizing | 1.0 | D | 0.673 | neutral | None | None | None | None | I |
| N/Y | 0.9929 | likely_pathogenic | 0.9916 | pathogenic | -0.388 | Destabilizing | 1.0 | D | 0.728 | prob.delet. | D | 0.547765958 | 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.