Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32269 | 97030;97031;97032 | chr2:178543168;178543167;178543166 | chr2:179407895;179407894;179407893 |
| N2AB | 30628 | 92107;92108;92109 | chr2:178543168;178543167;178543166 | chr2:179407895;179407894;179407893 |
| N2A | 29701 | 89326;89327;89328 | chr2:178543168;178543167;178543166 | chr2:179407895;179407894;179407893 |
| N2B | 23204 | 69835;69836;69837 | chr2:178543168;178543167;178543166 | chr2:179407895;179407894;179407893 |
| Novex-1 | 23329 | 70210;70211;70212 | chr2:178543168;178543167;178543166 | chr2:179407895;179407894;179407893 |
| Novex-2 | 23396 | 70411;70412;70413 | chr2:178543168;178543167;178543166 | chr2:179407895;179407894;179407893 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/D | rs876658095  |
None | 0.999 | N | 0.591 | 0.373 | 0.312608672186 | gnomAD-4.0.0 | 6.36663E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.57814E-06 | 0 | 3.02499E-05 |
| E/G | None | None | 1.0 | N | 0.601 | 0.548 | 0.630756395648 | gnomAD-4.0.0 | 1.59167E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77393E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.1845 | likely_benign | 0.1717 | benign | -0.615 | Destabilizing | 0.999 | D | 0.656 | neutral | N | 0.521519107 | None | None | N |
| E/C | 0.9292 | likely_pathogenic | 0.9204 | pathogenic | -0.126 | Destabilizing | 1.0 | D | 0.665 | neutral | None | None | None | None | N |
| E/D | 0.3571 | ambiguous | 0.3503 | ambiguous | -0.543 | Destabilizing | 0.999 | D | 0.591 | neutral | N | 0.482853675 | None | None | N |
| E/F | 0.9342 | likely_pathogenic | 0.922 | pathogenic | -0.47 | Destabilizing | 1.0 | D | 0.615 | neutral | None | None | None | None | N |
| E/G | 0.3247 | likely_benign | 0.2993 | benign | -0.835 | Destabilizing | 1.0 | D | 0.601 | neutral | N | 0.497590569 | None | None | N |
| E/H | 0.7251 | likely_pathogenic | 0.697 | pathogenic | -0.374 | Destabilizing | 1.0 | D | 0.628 | neutral | None | None | None | None | N |
| E/I | 0.5924 | likely_pathogenic | 0.5567 | ambiguous | -0.058 | Destabilizing | 1.0 | D | 0.625 | neutral | None | None | None | None | N |
| E/K | 0.2403 | likely_benign | 0.2333 | benign | 0.138 | Stabilizing | 0.999 | D | 0.709 | prob.delet. | N | 0.480523044 | None | None | N |
| E/L | 0.7106 | likely_pathogenic | 0.6741 | pathogenic | -0.058 | Destabilizing | 1.0 | D | 0.623 | neutral | None | None | None | None | N |
| E/M | 0.6761 | likely_pathogenic | 0.6401 | pathogenic | 0.164 | Stabilizing | 1.0 | D | 0.597 | neutral | None | None | None | None | N |
| E/N | 0.5911 | likely_pathogenic | 0.5611 | ambiguous | -0.213 | Destabilizing | 1.0 | D | 0.69 | prob.neutral | None | None | None | None | N |
| E/P | 0.5095 | ambiguous | 0.4865 | ambiguous | -0.224 | Destabilizing | 1.0 | D | 0.606 | neutral | None | None | None | None | N |
| E/Q | 0.201 | likely_benign | 0.1806 | benign | -0.187 | Destabilizing | 1.0 | D | 0.686 | prob.neutral | N | 0.467609803 | None | None | N |
| E/R | 0.374 | ambiguous | 0.3571 | ambiguous | 0.33 | Stabilizing | 1.0 | D | 0.683 | prob.neutral | None | None | None | None | N |
| E/S | 0.3456 | ambiguous | 0.3202 | benign | -0.383 | Destabilizing | 0.999 | D | 0.705 | prob.neutral | None | None | None | None | N |
| E/T | 0.3587 | ambiguous | 0.3342 | benign | -0.205 | Destabilizing | 1.0 | D | 0.643 | neutral | None | None | None | None | N |
| E/V | 0.3597 | ambiguous | 0.3328 | benign | -0.224 | Destabilizing | 1.0 | D | 0.608 | neutral | N | 0.482853675 | None | None | N |
| E/W | 0.9787 | likely_pathogenic | 0.9749 | pathogenic | -0.279 | Destabilizing | 1.0 | D | 0.668 | neutral | None | None | None | None | N |
| E/Y | 0.8824 | likely_pathogenic | 0.8629 | pathogenic | -0.221 | Destabilizing | 1.0 | D | 0.592 | 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.