Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29612 | 89059;89060;89061 | chr2:178554513;178554512;178554511 | chr2:179419240;179419239;179419238 |
| N2AB | 27971 | 84136;84137;84138 | chr2:178554513;178554512;178554511 | chr2:179419240;179419239;179419238 |
| N2A | 27044 | 81355;81356;81357 | chr2:178554513;178554512;178554511 | chr2:179419240;179419239;179419238 |
| N2B | 20547 | 61864;61865;61866 | chr2:178554513;178554512;178554511 | chr2:179419240;179419239;179419238 |
| Novex-1 | 20672 | 62239;62240;62241 | chr2:178554513;178554512;178554511 | chr2:179419240;179419239;179419238 |
| Novex-2 | 20739 | 62440;62441;62442 | chr2:178554513;178554512;178554511 | chr2:179419240;179419239;179419238 |
| 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 | rs767347782  |
-0.151 | 1.0 | D | 0.71 | 0.653 | 0.32082282376 | gnomAD-4.0.0 | 3.05098E-05 | None | None | None | None | N | None | 5.71755E-05 | 4.70168E-05 | None | 0 | 8.47218E-05 | None | 0 | 0 | 2.87497E-05 | 2.89687E-05 | 3.0447E-05 |
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 | 0.994 | likely_pathogenic | 0.9956 | pathogenic | -1.163 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| N/C | 0.9155 | likely_pathogenic | 0.9323 | pathogenic | -0.662 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| N/D | 0.984 | likely_pathogenic | 0.9863 | pathogenic | -2.069 | Highly Destabilizing | 0.999 | D | 0.568 | neutral | D | 0.547871771 | None | None | N |
| N/E | 0.998 | likely_pathogenic | 0.9983 | pathogenic | -1.851 | Destabilizing | 0.999 | D | 0.681 | prob.neutral | None | None | None | None | N |
| N/F | 0.9995 | likely_pathogenic | 0.9996 | pathogenic | -0.789 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| N/G | 0.9737 | likely_pathogenic | 0.9805 | pathogenic | -1.521 | Destabilizing | 0.999 | D | 0.516 | neutral | None | None | None | None | N |
| N/H | 0.975 | likely_pathogenic | 0.9803 | pathogenic | -1.098 | Destabilizing | 1.0 | D | 0.741 | deleterious | D | 0.538125308 | None | None | N |
| N/I | 0.9951 | likely_pathogenic | 0.9962 | pathogenic | -0.214 | Destabilizing | 1.0 | D | 0.777 | deleterious | D | 0.549899687 | None | None | N |
| N/K | 0.9983 | likely_pathogenic | 0.9987 | pathogenic | -0.39 | Destabilizing | 1.0 | D | 0.71 | prob.delet. | D | 0.53711135 | None | None | N |
| N/L | 0.974 | likely_pathogenic | 0.9807 | pathogenic | -0.214 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| N/M | 0.992 | likely_pathogenic | 0.9944 | pathogenic | -0.024 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| N/P | 0.9972 | likely_pathogenic | 0.9975 | pathogenic | -0.505 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| N/Q | 0.9972 | likely_pathogenic | 0.9978 | pathogenic | -1.052 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| N/R | 0.9967 | likely_pathogenic | 0.9974 | pathogenic | -0.524 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| N/S | 0.6726 | likely_pathogenic | 0.741 | pathogenic | -1.313 | Destabilizing | 0.999 | D | 0.547 | neutral | N | 0.493038801 | None | None | N |
| N/T | 0.9143 | likely_pathogenic | 0.9367 | pathogenic | -0.929 | Destabilizing | 0.999 | D | 0.673 | neutral | N | 0.491326826 | None | None | N |
| N/V | 0.9912 | likely_pathogenic | 0.9936 | pathogenic | -0.505 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| N/W | 0.9998 | likely_pathogenic | 0.9999 | pathogenic | -0.758 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| N/Y | 0.9947 | likely_pathogenic | 0.9962 | pathogenic | -0.391 | Destabilizing | 1.0 | D | 0.784 | deleterious | D | 0.538125308 | 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.