Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28303 | 85132;85133;85134 | chr2:178561225;178561224;178561223 | chr2:179425952;179425951;179425950 |
| N2AB | 26662 | 80209;80210;80211 | chr2:178561225;178561224;178561223 | chr2:179425952;179425951;179425950 |
| N2A | 25735 | 77428;77429;77430 | chr2:178561225;178561224;178561223 | chr2:179425952;179425951;179425950 |
| N2B | 19238 | 57937;57938;57939 | chr2:178561225;178561224;178561223 | chr2:179425952;179425951;179425950 |
| Novex-1 | 19363 | 58312;58313;58314 | chr2:178561225;178561224;178561223 | chr2:179425952;179425951;179425950 |
| Novex-2 | 19430 | 58513;58514;58515 | chr2:178561225;178561224;178561223 | chr2:179425952;179425951;179425950 |
| 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/Y | rs1314927590  |
-0.514 | 1.0 | N | 0.775 | 0.531 | 0.605592448911 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| N/Y | rs1314927590 |
-0.514 | 1.0 | N | 0.775 | 0.531 | 0.605592448911 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| N/Y | rs1314927590 |
-0.514 | 1.0 | N | 0.775 | 0.531 | 0.605592448911 | gnomAD-4.0.0 | 6.5722E-06 | None | None | None | None | N | None | 2.41231E-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 | 0.8804 | likely_pathogenic | 0.87 | pathogenic | -1.074 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | N |
| N/C | 0.7143 | likely_pathogenic | 0.6158 | pathogenic | -0.102 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| N/D | 0.8557 | likely_pathogenic | 0.8734 | pathogenic | -0.7 | Destabilizing | 0.999 | D | 0.649 | neutral | N | 0.479308503 | None | None | N |
| N/E | 0.9872 | likely_pathogenic | 0.9895 | pathogenic | -0.493 | Destabilizing | 0.999 | D | 0.723 | prob.delet. | None | None | None | None | N |
| N/F | 0.9916 | likely_pathogenic | 0.9918 | pathogenic | -0.625 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| N/G | 0.8341 | likely_pathogenic | 0.8297 | pathogenic | -1.486 | Destabilizing | 0.999 | D | 0.597 | neutral | None | None | None | None | N |
| N/H | 0.6783 | likely_pathogenic | 0.6722 | pathogenic | -0.831 | Destabilizing | 1.0 | D | 0.777 | deleterious | D | 0.525447633 | None | None | N |
| N/I | 0.9334 | likely_pathogenic | 0.9272 | pathogenic | 0.025 | Stabilizing | 1.0 | D | 0.781 | deleterious | N | 0.494868317 | None | None | N |
| N/K | 0.992 | likely_pathogenic | 0.9926 | pathogenic | 0.013 | Stabilizing | 1.0 | D | 0.747 | deleterious | N | 0.497159269 | None | None | N |
| N/L | 0.9155 | likely_pathogenic | 0.9139 | pathogenic | 0.025 | Stabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| N/M | 0.9516 | likely_pathogenic | 0.9487 | pathogenic | 0.3 | Stabilizing | 1.0 | D | 0.754 | deleterious | None | None | None | None | N |
| N/P | 0.9598 | likely_pathogenic | 0.9685 | pathogenic | -0.313 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| N/Q | 0.9681 | likely_pathogenic | 0.9693 | pathogenic | -0.546 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| N/R | 0.9824 | likely_pathogenic | 0.9837 | pathogenic | -0.128 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| N/S | 0.1303 | likely_benign | 0.1237 | benign | -1.001 | Destabilizing | 0.999 | D | 0.613 | neutral | N | 0.486483814 | None | None | N |
| N/T | 0.4409 | ambiguous | 0.4208 | ambiguous | -0.571 | Destabilizing | 0.999 | D | 0.708 | prob.delet. | N | 0.471569368 | None | None | N |
| N/V | 0.9042 | likely_pathogenic | 0.89 | pathogenic | -0.313 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| N/W | 0.9967 | likely_pathogenic | 0.9971 | pathogenic | -0.353 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| N/Y | 0.9258 | likely_pathogenic | 0.9315 | pathogenic | -0.085 | Destabilizing | 1.0 | D | 0.775 | deleterious | N | 0.482323924 | 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.