Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29696 | 89311;89312;89313 | chr2:178554025;178554024;178554023 | chr2:179418752;179418751;179418750 |
| N2AB | 28055 | 84388;84389;84390 | chr2:178554025;178554024;178554023 | chr2:179418752;179418751;179418750 |
| N2A | 27128 | 81607;81608;81609 | chr2:178554025;178554024;178554023 | chr2:179418752;179418751;179418750 |
| N2B | 20631 | 62116;62117;62118 | chr2:178554025;178554024;178554023 | chr2:179418752;179418751;179418750 |
| Novex-1 | 20756 | 62491;62492;62493 | chr2:178554025;178554024;178554023 | chr2:179418752;179418751;179418750 |
| Novex-2 | 20823 | 62692;62693;62694 | chr2:178554025;178554024;178554023 | chr2:179418752;179418751;179418750 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/P | rs1341013204  |
-0.358 | 0.794 | D | 0.549 | 0.222 | 0.227260227426 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| T/P | rs1341013204 |
-0.358 | 0.794 | D | 0.549 | 0.222 | 0.227260227426 | gnomAD-4.0.0 | 1.59148E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02371E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0759 | likely_benign | 0.0845 | benign | -0.564 | Destabilizing | 0.001 | N | 0.129 | neutral | N | 0.486185038 | None | None | N |
| T/C | 0.2819 | likely_benign | 0.3328 | benign | -0.326 | Destabilizing | 0.951 | D | 0.494 | neutral | None | None | None | None | N |
| T/D | 0.382 | ambiguous | 0.4634 | ambiguous | 0.189 | Stabilizing | 0.264 | N | 0.437 | neutral | None | None | None | None | N |
| T/E | 0.3422 | ambiguous | 0.4069 | ambiguous | 0.127 | Stabilizing | 0.418 | N | 0.421 | neutral | None | None | None | None | N |
| T/F | 0.1896 | likely_benign | 0.2329 | benign | -0.973 | Destabilizing | 0.716 | D | 0.523 | neutral | None | None | None | None | N |
| T/G | 0.1606 | likely_benign | 0.1896 | benign | -0.721 | Destabilizing | 0.129 | N | 0.397 | neutral | None | None | None | None | N |
| T/H | 0.2357 | likely_benign | 0.2774 | benign | -0.992 | Destabilizing | 0.005 | N | 0.355 | neutral | None | None | None | None | N |
| T/I | 0.129 | likely_benign | 0.156 | benign | -0.262 | Destabilizing | 0.002 | N | 0.295 | neutral | N | 0.49518794 | None | None | N |
| T/K | 0.2795 | likely_benign | 0.3093 | benign | -0.449 | Destabilizing | 0.213 | N | 0.439 | neutral | N | 0.517481511 | None | None | N |
| T/L | 0.0809 | likely_benign | 0.0909 | benign | -0.262 | Destabilizing | 0.129 | N | 0.396 | neutral | None | None | None | None | N |
| T/M | 0.0765 | likely_benign | 0.0826 | benign | -0.002 | Destabilizing | 0.716 | D | 0.512 | neutral | None | None | None | None | N |
| T/N | 0.099 | likely_benign | 0.1148 | benign | -0.248 | Destabilizing | 0.01 | N | 0.191 | neutral | None | None | None | None | N |
| T/P | 0.0973 | likely_benign | 0.1192 | benign | -0.333 | Destabilizing | 0.794 | D | 0.549 | neutral | D | 0.523023404 | None | None | N |
| T/Q | 0.234 | likely_benign | 0.2609 | benign | -0.478 | Destabilizing | 0.716 | D | 0.551 | neutral | None | None | None | None | N |
| T/R | 0.2522 | likely_benign | 0.2858 | benign | -0.164 | Destabilizing | 0.351 | N | 0.523 | neutral | N | 0.475296032 | None | None | N |
| T/S | 0.0825 | likely_benign | 0.0932 | benign | -0.514 | Destabilizing | 0.003 | N | 0.146 | neutral | N | 0.461396155 | None | None | N |
| T/V | 0.1066 | likely_benign | 0.1233 | benign | -0.333 | Destabilizing | 0.129 | N | 0.315 | neutral | None | None | None | None | N |
| T/W | 0.4774 | ambiguous | 0.5426 | ambiguous | -0.926 | Destabilizing | 0.983 | D | 0.534 | neutral | None | None | None | None | N |
| T/Y | 0.24 | likely_benign | 0.2759 | benign | -0.666 | Destabilizing | 0.716 | D | 0.512 | 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.