Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21108 | 63547;63548;63549 | chr2:178588085;178588084;178588083 | chr2:179452812;179452811;179452810 |
| N2AB | 19467 | 58624;58625;58626 | chr2:178588085;178588084;178588083 | chr2:179452812;179452811;179452810 |
| N2A | 18540 | 55843;55844;55845 | chr2:178588085;178588084;178588083 | chr2:179452812;179452811;179452810 |
| N2B | 12043 | 36352;36353;36354 | chr2:178588085;178588084;178588083 | chr2:179452812;179452811;179452810 |
| Novex-1 | 12168 | 36727;36728;36729 | chr2:178588085;178588084;178588083 | chr2:179452812;179452811;179452810 |
| Novex-2 | 12235 | 36928;36929;36930 | chr2:178588085;178588084;178588083 | chr2:179452812;179452811;179452810 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/V | rs769906829  |
-0.13 | 0.055 | N | 0.281 | 0.059 | 0.198526703765 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| A/V | rs769906829 |
-0.13 | 0.055 | N | 0.281 | 0.059 | 0.198526703765 | gnomAD-4.0.0 | 2.73824E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 4.63951E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.3214 | likely_benign | 0.3268 | benign | -0.926 | Destabilizing | 0.864 | D | 0.369 | neutral | None | None | None | None | N |
| A/D | 0.1281 | likely_benign | 0.1305 | benign | -0.705 | Destabilizing | None | N | 0.157 | neutral | None | None | None | None | N |
| A/E | 0.1084 | likely_benign | 0.1125 | benign | -0.843 | Destabilizing | None | N | 0.14 | neutral | N | 0.423779129 | None | None | N |
| A/F | 0.2679 | likely_benign | 0.2516 | benign | -1.021 | Destabilizing | 0.628 | D | 0.47 | neutral | None | None | None | None | N |
| A/G | 0.095 | likely_benign | 0.094 | benign | -0.357 | Destabilizing | 0.024 | N | 0.327 | neutral | N | 0.430435743 | None | None | N |
| A/H | 0.24 | likely_benign | 0.2315 | benign | -0.294 | Destabilizing | 0.356 | N | 0.463 | neutral | None | None | None | None | N |
| A/I | 0.1541 | likely_benign | 0.1515 | benign | -0.542 | Destabilizing | 0.356 | N | 0.445 | neutral | None | None | None | None | N |
| A/K | 0.1564 | likely_benign | 0.1484 | benign | -0.688 | Destabilizing | 0.016 | N | 0.359 | neutral | None | None | None | None | N |
| A/L | 0.113 | likely_benign | 0.1075 | benign | -0.542 | Destabilizing | 0.072 | N | 0.377 | neutral | None | None | None | None | N |
| A/M | 0.1541 | likely_benign | 0.1536 | benign | -0.77 | Destabilizing | 0.628 | D | 0.398 | neutral | None | None | None | None | N |
| A/N | 0.1445 | likely_benign | 0.1446 | benign | -0.393 | Destabilizing | 0.072 | N | 0.365 | neutral | None | None | None | None | N |
| A/P | 0.0794 | likely_benign | 0.0691 | benign | -0.46 | Destabilizing | None | N | 0.174 | neutral | N | 0.495970088 | None | None | N |
| A/Q | 0.1528 | likely_benign | 0.1418 | benign | -0.638 | Destabilizing | 0.038 | N | 0.351 | neutral | None | None | None | None | N |
| A/R | 0.1802 | likely_benign | 0.1691 | benign | -0.26 | Destabilizing | 0.038 | N | 0.417 | neutral | None | None | None | None | N |
| A/S | 0.0784 | likely_benign | 0.0781 | benign | -0.563 | Destabilizing | 0.012 | N | 0.299 | neutral | N | 0.400171551 | None | None | N |
| A/T | 0.0677 | likely_benign | 0.0733 | benign | -0.634 | Destabilizing | 0.024 | N | 0.287 | neutral | N | 0.423125768 | None | None | N |
| A/V | 0.0907 | likely_benign | 0.0921 | benign | -0.46 | Destabilizing | 0.055 | N | 0.281 | neutral | N | 0.495970088 | None | None | N |
| A/W | 0.4795 | ambiguous | 0.4561 | ambiguous | -1.102 | Destabilizing | 0.864 | D | 0.487 | neutral | None | None | None | None | N |
| A/Y | 0.3257 | likely_benign | 0.3147 | benign | -0.821 | Destabilizing | 0.628 | D | 0.47 | 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.