Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24939 | 75040;75041;75042 | chr2:178571317;178571316;178571315 | chr2:179436044;179436043;179436042 |
| N2AB | 23298 | 70117;70118;70119 | chr2:178571317;178571316;178571315 | chr2:179436044;179436043;179436042 |
| N2A | 22371 | 67336;67337;67338 | chr2:178571317;178571316;178571315 | chr2:179436044;179436043;179436042 |
| N2B | 15874 | 47845;47846;47847 | chr2:178571317;178571316;178571315 | chr2:179436044;179436043;179436042 |
| Novex-1 | 15999 | 48220;48221;48222 | chr2:178571317;178571316;178571315 | chr2:179436044;179436043;179436042 |
| Novex-2 | 16066 | 48421;48422;48423 | chr2:178571317;178571316;178571315 | chr2:179436044;179436043;179436042 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/G | rs780582199  |
-0.151 | 0.024 | N | 0.501 | 0.144 | 0.326074293725 | gnomAD-2.1.1 | 1.07E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 5.14E-05 | None | 0 | None | 8E-05 | 0 | 0 |
| R/G | rs780582199 |
-0.151 | 0.024 | N | 0.501 | 0.144 | 0.326074293725 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 9.43E-05 | 0 | 0 | 0 | 0 |
| R/G | rs780582199 |
-0.151 | 0.024 | N | 0.501 | 0.144 | 0.326074293725 | gnomAD-4.0.0 | 3.845E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.42801E-05 | None | 3.13834E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.1472 | likely_benign | 0.1398 | benign | 0.098 | Stabilizing | 0.016 | N | 0.397 | neutral | None | None | None | None | I |
| R/C | 0.1417 | likely_benign | 0.1482 | benign | -0.127 | Destabilizing | 0.864 | D | 0.441 | neutral | None | None | None | None | I |
| R/D | 0.3373 | likely_benign | 0.326 | benign | -0.099 | Destabilizing | 0.072 | N | 0.543 | neutral | None | None | None | None | I |
| R/E | 0.1844 | likely_benign | 0.1786 | benign | -0.02 | Destabilizing | 0.016 | N | 0.327 | neutral | None | None | None | None | I |
| R/F | 0.3751 | ambiguous | 0.3713 | ambiguous | -0.086 | Destabilizing | 0.628 | D | 0.485 | neutral | None | None | None | None | I |
| R/G | 0.1295 | likely_benign | 0.1349 | benign | -0.111 | Destabilizing | 0.024 | N | 0.501 | neutral | N | 0.476517536 | None | None | I |
| R/H | 0.0958 | likely_benign | 0.0981 | benign | -0.677 | Destabilizing | 0.356 | N | 0.389 | neutral | None | None | None | None | I |
| R/I | 0.1836 | likely_benign | 0.1809 | benign | 0.613 | Stabilizing | 0.295 | N | 0.487 | neutral | N | 0.461606799 | None | None | I |
| R/K | 0.0595 | likely_benign | 0.0609 | benign | -0.008 | Destabilizing | None | N | 0.121 | neutral | N | 0.382201866 | None | None | I |
| R/L | 0.1407 | likely_benign | 0.1498 | benign | 0.613 | Stabilizing | 0.031 | N | 0.502 | neutral | None | None | None | None | I |
| R/M | 0.1531 | likely_benign | 0.1547 | benign | 0.058 | Stabilizing | 0.628 | D | 0.457 | neutral | None | None | None | None | I |
| R/N | 0.2605 | likely_benign | 0.2459 | benign | 0.119 | Stabilizing | 0.072 | N | 0.347 | neutral | None | None | None | None | I |
| R/P | 0.143 | likely_benign | 0.1336 | benign | 0.463 | Stabilizing | None | N | 0.161 | neutral | None | None | None | None | I |
| R/Q | 0.0828 | likely_benign | 0.083 | benign | 0.087 | Stabilizing | 0.038 | N | 0.369 | neutral | None | None | None | None | I |
| R/S | 0.2033 | likely_benign | 0.1977 | benign | -0.159 | Destabilizing | 0.012 | N | 0.467 | neutral | N | 0.417469232 | None | None | I |
| R/T | 0.1129 | likely_benign | 0.1106 | benign | 0.062 | Stabilizing | 0.024 | N | 0.458 | neutral | N | 0.42006682 | None | None | I |
| R/V | 0.1871 | likely_benign | 0.1789 | benign | 0.463 | Stabilizing | 0.072 | N | 0.567 | neutral | None | None | None | None | I |
| R/W | 0.171 | likely_benign | 0.1796 | benign | -0.177 | Destabilizing | 0.864 | D | 0.451 | neutral | None | None | None | None | I |
| R/Y | 0.2849 | likely_benign | 0.2785 | benign | 0.242 | Stabilizing | 0.356 | N | 0.485 | 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.