Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30071 | 90436;90437;90438 | chr2:178552689;178552688;178552687 | chr2:179417416;179417415;179417414 |
| N2AB | 28430 | 85513;85514;85515 | chr2:178552689;178552688;178552687 | chr2:179417416;179417415;179417414 |
| N2A | 27503 | 82732;82733;82734 | chr2:178552689;178552688;178552687 | chr2:179417416;179417415;179417414 |
| N2B | 21006 | 63241;63242;63243 | chr2:178552689;178552688;178552687 | chr2:179417416;179417415;179417414 |
| Novex-1 | 21131 | 63616;63617;63618 | chr2:178552689;178552688;178552687 | chr2:179417416;179417415;179417414 |
| Novex-2 | 21198 | 63817;63818;63819 | chr2:178552689;178552688;178552687 | chr2:179417416;179417415;179417414 |
| 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/C | None | None | 0.295 | N | 0.611 | 0.145 | 0.350088858571 | gnomAD-4.0.0 | 1.59106E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85788E-06 | 0 | 0 |
| G/D | rs146338537  |
-0.685 | 0.029 | N | 0.557 | 0.102 | None | gnomAD-2.1.1 | 8.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.77E-05 | 0 |
| G/D | rs146338537 |
-0.685 | 0.029 | N | 0.557 | 0.102 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/D | rs146338537 |
-0.685 | 0.029 | N | 0.557 | 0.102 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 1E-03 | None | None | None | 0 | None |
| G/D | rs146338537 |
-0.685 | 0.029 | N | 0.557 | 0.102 | None | gnomAD-4.0.0 | 2.5614E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.78538E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.0988 | likely_benign | 0.0988 | benign | -0.56 | Destabilizing | None | N | 0.115 | neutral | N | 0.406156161 | None | None | N |
| G/C | 0.1858 | likely_benign | 0.1833 | benign | -0.987 | Destabilizing | 0.295 | N | 0.611 | neutral | N | 0.504146854 | None | None | N |
| G/D | 0.2345 | likely_benign | 0.1938 | benign | -0.805 | Destabilizing | 0.029 | N | 0.557 | neutral | N | 0.38551153 | None | None | N |
| G/E | 0.1775 | likely_benign | 0.144 | benign | -0.925 | Destabilizing | 0.038 | N | 0.562 | neutral | None | None | None | None | N |
| G/F | 0.5112 | ambiguous | 0.4608 | ambiguous | -1.012 | Destabilizing | 0.214 | N | 0.637 | neutral | None | None | None | None | N |
| G/H | 0.4241 | ambiguous | 0.3625 | ambiguous | -0.9 | Destabilizing | 0.214 | N | 0.599 | neutral | None | None | None | None | N |
| G/I | 0.1839 | likely_benign | 0.169 | benign | -0.459 | Destabilizing | 0.038 | N | 0.612 | neutral | None | None | None | None | N |
| G/K | 0.454 | ambiguous | 0.365 | ambiguous | -1.166 | Destabilizing | 0.038 | N | 0.563 | neutral | None | None | None | None | N |
| G/L | 0.2661 | likely_benign | 0.2445 | benign | -0.459 | Destabilizing | None | N | 0.355 | neutral | None | None | None | None | N |
| G/M | 0.3227 | likely_benign | 0.2973 | benign | -0.483 | Destabilizing | 0.214 | N | 0.627 | neutral | None | None | None | None | N |
| G/N | 0.2411 | likely_benign | 0.2146 | benign | -0.804 | Destabilizing | None | N | 0.203 | neutral | None | None | None | None | N |
| G/P | 0.5441 | ambiguous | 0.518 | ambiguous | -0.454 | Destabilizing | 0.136 | N | 0.624 | neutral | None | None | None | None | N |
| G/Q | 0.3002 | likely_benign | 0.2458 | benign | -1.058 | Destabilizing | 0.214 | N | 0.627 | neutral | None | None | None | None | N |
| G/R | 0.3803 | ambiguous | 0.3092 | benign | -0.723 | Destabilizing | 0.055 | N | 0.605 | neutral | N | 0.406406877 | None | None | N |
| G/S | 0.0938 | likely_benign | 0.0938 | benign | -1.015 | Destabilizing | None | N | 0.133 | neutral | N | 0.377988124 | None | None | N |
| G/T | 0.1336 | likely_benign | 0.1238 | benign | -1.061 | Destabilizing | 0.001 | N | 0.356 | neutral | None | None | None | None | N |
| G/V | 0.1232 | likely_benign | 0.1171 | benign | -0.454 | Destabilizing | 0.012 | N | 0.587 | neutral | N | 0.459913288 | None | None | N |
| G/W | 0.3571 | ambiguous | 0.3021 | benign | -1.225 | Destabilizing | 0.864 | D | 0.595 | neutral | None | None | None | None | N |
| G/Y | 0.3831 | ambiguous | 0.3259 | benign | -0.874 | Destabilizing | 0.356 | N | 0.643 | 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.