Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34406 | 103441;103442;103443 | chr2:178533399;178533398;178533397 | chr2:179398126;179398125;179398124 |
| N2AB | 32765 | 98518;98519;98520 | chr2:178533399;178533398;178533397 | chr2:179398126;179398125;179398124 |
| N2A | 31838 | 95737;95738;95739 | chr2:178533399;178533398;178533397 | chr2:179398126;179398125;179398124 |
| N2B | 25341 | 76246;76247;76248 | chr2:178533399;178533398;178533397 | chr2:179398126;179398125;179398124 |
| Novex-1 | 25466 | 76621;76622;76623 | chr2:178533399;178533398;178533397 | chr2:179398126;179398125;179398124 |
| Novex-2 | 25533 | 76822;76823;76824 | chr2:178533399;178533398;178533397 | chr2:179398126;179398125;179398124 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/E | rs1346830355  |
-0.285 | 0.901 | N | 0.477 | 0.397 | 0.589843679045 | 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 |
| G/E | rs1346830355 |
-0.285 | 0.901 | N | 0.477 | 0.397 | 0.589843679045 | gnomAD-4.0.0 | 3.18307E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.86549E-05 | 0 |
| G/R | rs371753532 |
-0.155 | 0.195 | N | 0.394 | 0.256 | 0.592943046075 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 1.77E-05 | 0 |
| G/R | rs371753532 |
-0.155 | 0.195 | N | 0.394 | 0.256 | 0.592943046075 | gnomAD-4.0.0 | 1.30011E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.51902E-05 | None | 1.88104E-05 | 0 | 1.25919E-05 | 3.4781E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.3886 | ambiguous | 0.3643 | ambiguous | -0.234 | Destabilizing | 0.008 | N | 0.249 | neutral | N | 0.51692223 | None | None | N |
| G/C | 0.5563 | ambiguous | 0.5529 | ambiguous | -0.878 | Destabilizing | 0.989 | D | 0.581 | neutral | None | None | None | None | N |
| G/D | 0.5949 | likely_pathogenic | 0.6335 | pathogenic | -0.554 | Destabilizing | 0.923 | D | 0.421 | neutral | None | None | None | None | N |
| G/E | 0.6861 | likely_pathogenic | 0.7224 | pathogenic | -0.711 | Destabilizing | 0.901 | D | 0.477 | neutral | N | 0.51692223 | None | None | N |
| G/F | 0.8642 | likely_pathogenic | 0.8682 | pathogenic | -0.943 | Destabilizing | 0.961 | D | 0.581 | neutral | None | None | None | None | N |
| G/H | 0.7469 | likely_pathogenic | 0.7604 | pathogenic | -0.456 | Destabilizing | 0.996 | D | 0.506 | neutral | None | None | None | None | N |
| G/I | 0.814 | likely_pathogenic | 0.8159 | pathogenic | -0.397 | Destabilizing | 0.923 | D | 0.582 | neutral | None | None | None | None | N |
| G/K | 0.842 | likely_pathogenic | 0.8672 | pathogenic | -0.832 | Destabilizing | 0.858 | D | 0.463 | neutral | None | None | None | None | N |
| G/L | 0.7615 | likely_pathogenic | 0.7403 | pathogenic | -0.397 | Destabilizing | 0.858 | D | 0.555 | neutral | None | None | None | None | N |
| G/M | 0.8685 | likely_pathogenic | 0.8492 | pathogenic | -0.554 | Destabilizing | 0.996 | D | 0.571 | neutral | None | None | None | None | N |
| G/N | 0.65 | likely_pathogenic | 0.6285 | pathogenic | -0.475 | Destabilizing | 0.923 | D | 0.447 | neutral | None | None | None | None | N |
| G/P | 0.9684 | likely_pathogenic | 0.9737 | pathogenic | -0.311 | Destabilizing | 0.961 | D | 0.503 | neutral | None | None | None | None | N |
| G/Q | 0.7595 | likely_pathogenic | 0.7676 | pathogenic | -0.735 | Destabilizing | 0.923 | D | 0.507 | neutral | None | None | None | None | N |
| G/R | 0.7534 | likely_pathogenic | 0.792 | pathogenic | -0.405 | Destabilizing | 0.195 | N | 0.394 | neutral | N | 0.495223253 | None | None | N |
| G/S | 0.2333 | likely_benign | 0.2144 | benign | -0.604 | Destabilizing | 0.044 | N | 0.291 | neutral | None | None | None | None | N |
| G/T | 0.4822 | ambiguous | 0.4571 | ambiguous | -0.693 | Destabilizing | 0.633 | D | 0.462 | neutral | None | None | None | None | N |
| G/V | 0.7109 | likely_pathogenic | 0.6969 | pathogenic | -0.311 | Destabilizing | 0.82 | D | 0.553 | neutral | N | 0.510467126 | None | None | N |
| G/W | 0.8126 | likely_pathogenic | 0.844 | pathogenic | -1.107 | Destabilizing | 0.998 | D | 0.541 | neutral | D | 0.53772564 | None | None | N |
| G/Y | 0.8186 | likely_pathogenic | 0.8297 | pathogenic | -0.767 | Destabilizing | 0.987 | D | 0.58 | 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.