Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5159 | 15700;15701;15702 | chr2:178734349;178734348;178734347 | chr2:179599076;179599075;179599074 |
| N2AB | 4842 | 14749;14750;14751 | chr2:178734349;178734348;178734347 | chr2:179599076;179599075;179599074 |
| N2A | 3915 | 11968;11969;11970 | chr2:178734349;178734348;178734347 | chr2:179599076;179599075;179599074 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/I | None | None | None | N | 0.095 | 0.147 | 0.0884992946249 | gnomAD-4.0.0 | 3.26482E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.87185E-06 | 0 | 0 |
| M/L | None | None | None | N | 0.098 | 0.193 | 0.143124449307 | gnomAD-4.0.0 | 6.90343E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.05869E-07 | 0 | 0 |
| M/V | rs1553929310  |
None | None | N | 0.101 | 0.17 | 0.0716867268079 | gnomAD-4.0.0 | 1.38069E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.81174E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/A | 0.0662 | likely_benign | 0.0687 | benign | -0.809 | Destabilizing | None | N | 0.215 | neutral | None | None | None | None | N |
| M/C | 0.2594 | likely_benign | 0.251 | benign | -0.616 | Destabilizing | 0.132 | N | 0.519 | neutral | None | None | None | None | N |
| M/D | 0.2334 | likely_benign | 0.2586 | benign | -0.062 | Destabilizing | 0.002 | N | 0.345 | neutral | None | None | None | None | N |
| M/E | 0.128 | likely_benign | 0.133 | benign | -0.109 | Destabilizing | 0.001 | N | 0.324 | neutral | None | None | None | None | N |
| M/F | 0.0963 | likely_benign | 0.1125 | benign | -0.331 | Destabilizing | 0.004 | N | 0.277 | neutral | None | None | None | None | N |
| M/G | 0.1003 | likely_benign | 0.1094 | benign | -1.008 | Destabilizing | 0.001 | N | 0.351 | neutral | None | None | None | None | N |
| M/H | 0.1168 | likely_benign | 0.1191 | benign | -0.121 | Destabilizing | 0.041 | N | 0.557 | neutral | None | None | None | None | N |
| M/I | 0.0671 | likely_benign | 0.0742 | benign | -0.365 | Destabilizing | None | N | 0.095 | neutral | N | 0.428734155 | None | None | N |
| M/K | 0.066 | likely_benign | 0.0592 | benign | 0.104 | Stabilizing | None | N | 0.189 | neutral | N | 0.32391624 | None | None | N |
| M/L | 0.0642 | likely_benign | 0.071 | benign | -0.365 | Destabilizing | None | N | 0.098 | neutral | N | 0.465176892 | None | None | N |
| M/N | 0.1048 | likely_benign | 0.1043 | benign | 0.29 | Stabilizing | 0.002 | N | 0.337 | neutral | None | None | None | None | N |
| M/P | 0.2407 | likely_benign | 0.2603 | benign | -0.484 | Destabilizing | 0.004 | N | 0.34 | neutral | None | None | None | None | N |
| M/Q | 0.0779 | likely_benign | 0.0757 | benign | 0.093 | Stabilizing | 0.004 | N | 0.222 | neutral | None | None | None | None | N |
| M/R | 0.062 | likely_benign | 0.0524 | benign | 0.674 | Stabilizing | None | N | 0.193 | neutral | N | 0.408653424 | None | None | N |
| M/S | 0.0713 | likely_benign | 0.0696 | benign | -0.176 | Destabilizing | None | N | 0.186 | neutral | None | None | None | None | N |
| M/T | 0.0535 | likely_benign | 0.0507 | benign | -0.125 | Destabilizing | None | N | 0.186 | neutral | N | 0.315603266 | None | None | N |
| M/V | 0.0517 | likely_benign | 0.0545 | benign | -0.484 | Destabilizing | None | N | 0.101 | neutral | N | 0.386412354 | None | None | N |
| M/W | 0.2018 | likely_benign | 0.2206 | benign | -0.261 | Destabilizing | 0.316 | N | 0.477 | neutral | None | None | None | None | N |
| M/Y | 0.1755 | likely_benign | 0.1994 | benign | -0.173 | Destabilizing | 0.018 | N | 0.363 | 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.