Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33339 | 100240;100241;100242 | chr2:178537094;178537093;178537092 | chr2:179401821;179401820;179401819 |
| N2AB | 31698 | 95317;95318;95319 | chr2:178537094;178537093;178537092 | chr2:179401821;179401820;179401819 |
| N2A | 30771 | 92536;92537;92538 | chr2:178537094;178537093;178537092 | chr2:179401821;179401820;179401819 |
| N2B | 24274 | 73045;73046;73047 | chr2:178537094;178537093;178537092 | chr2:179401821;179401820;179401819 |
| Novex-1 | 24399 | 73420;73421;73422 | chr2:178537094;178537093;178537092 | chr2:179401821;179401820;179401819 |
| Novex-2 | 24466 | 73621;73622;73623 | chr2:178537094;178537093;178537092 | chr2:179401821;179401820;179401819 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/G | None | None | 1.0 | D | 0.654 | 0.598 | 0.524063890018 | gnomAD-4.0.0 | 3.0008E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.15E-05 | 0 | 3.66327E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9865 | likely_pathogenic | 0.9833 | pathogenic | -2.639 | Highly Destabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | N |
| W/C | 0.9948 | likely_pathogenic | 0.9935 | pathogenic | -0.775 | Destabilizing | 1.0 | D | 0.656 | neutral | N | 0.50533925 | None | None | N |
| W/D | 0.9946 | likely_pathogenic | 0.9936 | pathogenic | -1.108 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | N |
| W/E | 0.9965 | likely_pathogenic | 0.9952 | pathogenic | -1.053 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | N |
| W/F | 0.5416 | ambiguous | 0.5985 | pathogenic | -1.688 | Destabilizing | 1.0 | D | 0.615 | neutral | None | None | None | None | N |
| W/G | 0.9538 | likely_pathogenic | 0.9428 | pathogenic | -2.825 | Highly Destabilizing | 1.0 | D | 0.654 | neutral | D | 0.537406703 | None | None | N |
| W/H | 0.9888 | likely_pathogenic | 0.9873 | pathogenic | -1.201 | Destabilizing | 1.0 | D | 0.645 | neutral | None | None | None | None | N |
| W/I | 0.9783 | likely_pathogenic | 0.9726 | pathogenic | -1.986 | Destabilizing | 1.0 | D | 0.716 | prob.delet. | None | None | None | None | N |
| W/K | 0.9973 | likely_pathogenic | 0.9962 | pathogenic | -1.073 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | N |
| W/L | 0.9372 | likely_pathogenic | 0.9177 | pathogenic | -1.986 | Destabilizing | 1.0 | D | 0.654 | neutral | D | 0.536646235 | None | None | N |
| W/M | 0.9836 | likely_pathogenic | 0.9778 | pathogenic | -1.356 | Destabilizing | 1.0 | D | 0.619 | neutral | None | None | None | None | N |
| W/N | 0.9922 | likely_pathogenic | 0.9916 | pathogenic | -1.315 | Destabilizing | 1.0 | D | 0.683 | prob.neutral | None | None | None | None | N |
| W/P | 0.9846 | likely_pathogenic | 0.981 | pathogenic | -2.215 | Highly Destabilizing | 1.0 | D | 0.685 | prob.neutral | None | None | None | None | N |
| W/Q | 0.9985 | likely_pathogenic | 0.9977 | pathogenic | -1.351 | Destabilizing | 1.0 | D | 0.686 | prob.neutral | None | None | None | None | N |
| W/R | 0.9966 | likely_pathogenic | 0.9954 | pathogenic | -0.506 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | D | 0.537913682 | None | None | N |
| W/S | 0.9815 | likely_pathogenic | 0.9761 | pathogenic | -1.763 | Destabilizing | 1.0 | D | 0.716 | prob.delet. | N | 0.517781511 | None | None | N |
| W/T | 0.9853 | likely_pathogenic | 0.9822 | pathogenic | -1.664 | Destabilizing | 1.0 | D | 0.7 | prob.neutral | None | None | None | None | N |
| W/V | 0.9779 | likely_pathogenic | 0.9729 | pathogenic | -2.215 | Highly Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | N |
| W/Y | 0.7087 | likely_pathogenic | 0.7476 | pathogenic | -1.55 | Destabilizing | 1.0 | D | 0.553 | neutral | None | None | 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.