Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20227 | 60904;60905;60906 | chr2:178591046;178591045;178591044 | chr2:179455773;179455772;179455771 |
| N2AB | 18586 | 55981;55982;55983 | chr2:178591046;178591045;178591044 | chr2:179455773;179455772;179455771 |
| N2A | 17659 | 53200;53201;53202 | chr2:178591046;178591045;178591044 | chr2:179455773;179455772;179455771 |
| N2B | 11162 | 33709;33710;33711 | chr2:178591046;178591045;178591044 | chr2:179455773;179455772;179455771 |
| Novex-1 | 11287 | 34084;34085;34086 | chr2:178591046;178591045;178591044 | chr2:179455773;179455772;179455771 |
| Novex-2 | 11354 | 34285;34286;34287 | chr2:178591046;178591045;178591044 | chr2:179455773;179455772;179455771 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/G | None | None | 0.201 | N | 0.266 | 0.095 | 0.192905019026 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.625E-06 | 0 | 0 |
| S/N | None | None | 0.004 | N | 0.097 | 0.066 | 0.166414681773 | gnomAD-4.0.0 | 3.18394E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.71938E-06 | 0 | 0 |
| S/R | None | None | 0.81 | N | 0.367 | 0.196 | 0.213573922156 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 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 | 0.0764 | likely_benign | 0.0793 | benign | -0.578 | Destabilizing | 0.25 | N | 0.244 | neutral | None | None | None | None | N |
| S/C | 0.1023 | likely_benign | 0.1028 | benign | -0.406 | Destabilizing | 0.99 | D | 0.284 | neutral | D | 0.526063709 | None | None | N |
| S/D | 0.3976 | ambiguous | 0.4477 | ambiguous | 0.363 | Stabilizing | 0.447 | N | 0.249 | neutral | None | None | None | None | N |
| S/E | 0.4312 | ambiguous | 0.4695 | ambiguous | 0.292 | Stabilizing | 0.617 | D | 0.253 | neutral | None | None | None | None | N |
| S/F | 0.2034 | likely_benign | 0.2236 | benign | -1.066 | Destabilizing | 0.85 | D | 0.307 | neutral | None | None | None | None | N |
| S/G | 0.081 | likely_benign | 0.0851 | benign | -0.722 | Destabilizing | 0.201 | N | 0.266 | neutral | N | 0.471594506 | None | None | N |
| S/H | 0.3031 | likely_benign | 0.3203 | benign | -1.163 | Destabilizing | 0.92 | D | 0.295 | neutral | None | None | None | None | N |
| S/I | 0.1484 | likely_benign | 0.1546 | benign | -0.322 | Destabilizing | 0.379 | N | 0.321 | neutral | N | 0.477675116 | None | None | N |
| S/K | 0.4903 | ambiguous | 0.5253 | ambiguous | -0.489 | Destabilizing | 0.617 | D | 0.249 | neutral | None | None | None | None | N |
| S/L | 0.0844 | likely_benign | 0.0931 | benign | -0.322 | Destabilizing | 0.002 | N | 0.149 | neutral | None | None | None | None | N |
| S/M | 0.1769 | likely_benign | 0.1719 | benign | -0.127 | Destabilizing | 0.85 | D | 0.289 | neutral | None | None | None | None | N |
| S/N | 0.1248 | likely_benign | 0.125 | benign | -0.264 | Destabilizing | 0.004 | N | 0.097 | neutral | N | 0.467436693 | None | None | N |
| S/P | 0.0994 | likely_benign | 0.124 | benign | -0.377 | Destabilizing | 0.92 | D | 0.357 | neutral | None | None | None | None | N |
| S/Q | 0.3714 | ambiguous | 0.3703 | ambiguous | -0.47 | Destabilizing | 0.92 | D | 0.313 | neutral | None | None | None | None | N |
| S/R | 0.4536 | ambiguous | 0.5009 | ambiguous | -0.318 | Destabilizing | 0.81 | D | 0.367 | neutral | N | 0.427958372 | None | None | N |
| S/T | 0.0764 | likely_benign | 0.0786 | benign | -0.397 | Destabilizing | 0.002 | N | 0.101 | neutral | N | 0.393418937 | None | None | N |
| S/V | 0.1444 | likely_benign | 0.1491 | benign | -0.377 | Destabilizing | 0.25 | N | 0.32 | neutral | None | None | None | None | N |
| S/W | 0.3047 | likely_benign | 0.3537 | ambiguous | -1.029 | Destabilizing | 0.992 | D | 0.296 | neutral | None | None | None | None | N |
| S/Y | 0.1927 | likely_benign | 0.2146 | benign | -0.766 | Destabilizing | 0.972 | D | 0.297 | 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.