Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 112 | 559;560;561 | chr2:178800644;178800643;178800642 | chr2:179665371;179665370;179665369 |
| N2AB | 112 | 559;560;561 | chr2:178800644;178800643;178800642 | chr2:179665371;179665370;179665369 |
| N2A | 112 | 559;560;561 | chr2:178800644;178800643;178800642 | chr2:179665371;179665370;179665369 |
| N2B | 112 | 559;560;561 | chr2:178800644;178800643;178800642 | chr2:179665371;179665370;179665369 |
| Novex-1 | 112 | 559;560;561 | chr2:178800644;178800643;178800642 | chr2:179665371;179665370;179665369 |
| Novex-2 | 112 | 559;560;561 | chr2:178800644;178800643;178800642 | chr2:179665371;179665370;179665369 |
| Novex-3 | 112 | 559;560;561 | chr2:178800644;178800643;178800642 | chr2:179665371;179665370;179665369 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/C | None | None | 1.0 | D | 0.666 | 0.698 | 0.706202814552 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | -0.202(TCAP) | N | None | 0 | 0 | 0 | 0 | 1.9253E-04 | None | 0 | 0 | 0 | 0 | 0 |
| S/C | None | None | 1.0 | D | 0.666 | 0.698 | 0.706202814552 | gnomAD-4.0.0 | 2.57113E-06 | None | None | None | -0.202(TCAP) | N | None | 0 | 0 | None | 0 | 4.85131E-05 | None | 0 | 0 | 0 | 0 | 0 |
| S/N | None | None | 0.859 | N | 0.491 | 0.27 | 0.243972157842 | gnomAD-4.0.0 | 6.8547E-07 | None | None | None | -0.782(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00576E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.254 | likely_benign | 0.2437 | benign | -0.169 | Destabilizing | 0.514 | D | 0.321 | neutral | None | None | None | -0.446(TCAP) | N |
| S/C | 0.7332 | likely_pathogenic | 0.7108 | pathogenic | -0.257 | Destabilizing | 1.0 | D | 0.666 | neutral | D | 0.662203732 | None | -0.202(TCAP) | N |
| S/D | 0.707 | likely_pathogenic | 0.7226 | pathogenic | -0.134 | Destabilizing | 0.986 | D | 0.486 | neutral | None | None | None | -1.532(TCAP) | N |
| S/E | 0.8942 | likely_pathogenic | 0.8944 | pathogenic | -0.242 | Destabilizing | 0.99 | D | 0.49 | neutral | None | None | None | -1.57(TCAP) | N |
| S/F | 0.9295 | likely_pathogenic | 0.9234 | pathogenic | -0.825 | Destabilizing | 0.999 | D | 0.721 | prob.delet. | None | None | None | -0.144(TCAP) | N |
| S/G | 0.2687 | likely_benign | 0.2909 | benign | -0.246 | Destabilizing | 0.99 | D | 0.358 | neutral | N | 0.520543238 | None | -0.466(TCAP) | N |
| S/H | 0.8377 | likely_pathogenic | 0.8262 | pathogenic | -0.673 | Destabilizing | 1.0 | D | 0.657 | neutral | None | None | None | -0.178(TCAP) | N |
| S/I | 0.8809 | likely_pathogenic | 0.8859 | pathogenic | -0.098 | Destabilizing | 0.999 | D | 0.714 | prob.delet. | D | 0.547187169 | None | -0.444(TCAP) | N |
| S/K | 0.9662 | likely_pathogenic | 0.9633 | pathogenic | -0.473 | Destabilizing | 0.996 | D | 0.482 | neutral | None | None | None | -1.641(TCAP) | N |
| S/L | 0.7052 | likely_pathogenic | 0.6974 | pathogenic | -0.098 | Destabilizing | 0.992 | D | 0.543 | neutral | None | None | None | -0.444(TCAP) | N |
| S/M | 0.8086 | likely_pathogenic | 0.8012 | pathogenic | 0.013 | Stabilizing | 1.0 | D | 0.658 | neutral | None | None | None | 0.399(TCAP) | N |
| S/N | 0.3208 | likely_benign | 0.3378 | benign | -0.145 | Destabilizing | 0.859 | D | 0.491 | neutral | N | 0.425792796 | None | -0.782(TCAP) | N |
| S/P | 0.472 | ambiguous | 0.5666 | pathogenic | -0.095 | Destabilizing | 0.998 | D | 0.705 | prob.neutral | None | None | None | -0.434(TCAP) | N |
| S/Q | 0.8892 | likely_pathogenic | 0.8828 | pathogenic | -0.419 | Destabilizing | 0.999 | D | 0.61 | neutral | None | None | None | -0.974(TCAP) | N |
| S/R | 0.9576 | likely_pathogenic | 0.9539 | pathogenic | -0.193 | Destabilizing | 0.999 | D | 0.717 | prob.delet. | D | 0.525627177 | None | -1.489(TCAP) | N |
| S/T | 0.2934 | likely_benign | 0.303 | benign | -0.23 | Destabilizing | 0.076 | N | 0.315 | neutral | N | 0.521780264 | None | -1.065(TCAP) | N |
| S/V | 0.8302 | likely_pathogenic | 0.8285 | pathogenic | -0.095 | Destabilizing | 0.994 | D | 0.606 | neutral | None | None | None | -0.434(TCAP) | N |
| S/W | 0.9388 | likely_pathogenic | 0.936 | pathogenic | -0.888 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | None | None | None | -0.107(TCAP) | N |
| S/Y | 0.8236 | likely_pathogenic | 0.8216 | pathogenic | -0.589 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | 0.2(TCAP) | 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.