Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5217 | 15874;15875;15876 | chr2:178733740;178733739;178733738 | chr2:179598467;179598466;179598465 |
| N2AB | 4900 | 14923;14924;14925 | chr2:178733740;178733739;178733738 | chr2:179598467;179598466;179598465 |
| N2A | 3973 | 12142;12143;12144 | chr2:178733740;178733739;178733738 | chr2:179598467;179598466;179598465 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 | rs1481811806  |
-0.372 | 0.005 | D | 0.071 | 0.209 | 0.295974979623 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 4.64E-05 | 0 | 0 |
| S/G | rs1481811806 |
-0.372 | 0.005 | D | 0.071 | 0.209 | 0.295974979623 | gnomAD-4.0.0 | 1.59117E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 1.88232E-05 | 0 | 0 | 0 | 0 |
| S/N | rs1479096219 |
0.03 | 0.801 | D | 0.245 | 0.211 | 0.357519025918 | gnomAD-2.1.1 | 6.37E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.29618E-04 | 0 |
| S/N | rs1479096219 |
0.03 | 0.801 | D | 0.245 | 0.211 | 0.357519025918 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| S/N | rs1479096219 |
0.03 | 0.801 | D | 0.245 | 0.211 | 0.357519025918 | gnomAD-4.0.0 | 1.42528E-05 | None | None | None | None | I | None | 1.33486E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.86475E-05 | 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 | 0.0868 | likely_benign | 0.0921 | benign | -0.346 | Destabilizing | 0.029 | N | 0.076 | neutral | None | None | None | None | I |
| S/C | 0.1441 | likely_benign | 0.1629 | benign | -0.274 | Destabilizing | 0.997 | D | 0.381 | neutral | D | 0.73891681 | None | None | I |
| S/D | 0.2528 | likely_benign | 0.2708 | benign | 0.217 | Stabilizing | 0.842 | D | 0.213 | neutral | None | None | None | None | I |
| S/E | 0.3381 | likely_benign | 0.3532 | ambiguous | 0.166 | Stabilizing | 0.842 | D | 0.216 | neutral | None | None | None | None | I |
| S/F | 0.1426 | likely_benign | 0.1577 | benign | -0.756 | Destabilizing | 0.974 | D | 0.458 | neutral | None | None | None | None | I |
| S/G | 0.1047 | likely_benign | 0.1151 | benign | -0.526 | Destabilizing | 0.005 | N | 0.071 | neutral | D | 0.60409623 | None | None | I |
| S/H | 0.2364 | likely_benign | 0.2505 | benign | -0.975 | Destabilizing | 0.998 | D | 0.383 | neutral | None | None | None | None | I |
| S/I | 0.1294 | likely_benign | 0.1371 | benign | 0.003 | Stabilizing | 0.934 | D | 0.425 | neutral | N | 0.513388624 | None | None | I |
| S/K | 0.4913 | ambiguous | 0.5142 | ambiguous | -0.472 | Destabilizing | 0.842 | D | 0.216 | neutral | None | None | None | None | I |
| S/L | 0.0982 | likely_benign | 0.1044 | benign | 0.003 | Stabilizing | 0.728 | D | 0.348 | neutral | None | None | None | None | I |
| S/M | 0.1652 | likely_benign | 0.1853 | benign | 0.079 | Stabilizing | 0.991 | D | 0.386 | neutral | None | None | None | None | I |
| S/N | 0.1017 | likely_benign | 0.1283 | benign | -0.268 | Destabilizing | 0.801 | D | 0.245 | neutral | D | 0.562778757 | None | None | I |
| S/P | 0.81 | likely_pathogenic | 0.8628 | pathogenic | -0.081 | Destabilizing | 0.974 | D | 0.383 | neutral | None | None | None | None | I |
| S/Q | 0.3565 | ambiguous | 0.3822 | ambiguous | -0.42 | Destabilizing | 0.974 | D | 0.355 | neutral | None | None | None | None | I |
| S/R | 0.3997 | ambiguous | 0.4245 | ambiguous | -0.327 | Destabilizing | 0.934 | D | 0.393 | neutral | D | 0.552509016 | None | None | I |
| S/T | 0.0667 | likely_benign | 0.0686 | benign | -0.321 | Destabilizing | 0.007 | N | 0.075 | neutral | N | 0.478286447 | None | None | I |
| S/V | 0.1461 | likely_benign | 0.16 | benign | -0.081 | Destabilizing | 0.728 | D | 0.347 | neutral | None | None | None | None | I |
| S/W | 0.3062 | likely_benign | 0.3472 | ambiguous | -0.794 | Destabilizing | 0.998 | D | 0.48 | neutral | None | None | None | None | I |
| S/Y | 0.1364 | likely_benign | 0.148 | benign | -0.496 | Destabilizing | 0.991 | D | 0.457 | neutral | None | None | None | None | I |
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.