Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18181 | 54766;54767;54768 | chr2:178604146;178604145;178604144 | chr2:179468873;179468872;179468871 |
| N2AB | 16540 | 49843;49844;49845 | chr2:178604146;178604145;178604144 | chr2:179468873;179468872;179468871 |
| N2A | 15613 | 47062;47063;47064 | chr2:178604146;178604145;178604144 | chr2:179468873;179468872;179468871 |
| N2B | 9116 | 27571;27572;27573 | chr2:178604146;178604145;178604144 | chr2:179468873;179468872;179468871 |
| Novex-1 | 9241 | 27946;27947;27948 | chr2:178604146;178604145;178604144 | chr2:179468873;179468872;179468871 |
| Novex-2 | 9308 | 28147;28148;28149 | chr2:178604146;178604145;178604144 | chr2:179468873;179468872;179468871 |
| 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 | rs776456385  |
None | 0.549 | N | 0.475 | 0.284 | 0.402899589544 | gnomAD-4.0.0 | 6.84793E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00051E-07 | 0 | 0 |
| G/R | rs761810379 |
-0.677 | 0.81 | N | 0.499 | 0.153 | 0.45882554386 | gnomAD-2.1.1 | 8.07E-06 | None | None | None | None | N | None | 0 | 2.91E-05 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| G/R | rs761810379 |
-0.677 | 0.81 | N | 0.499 | 0.153 | 0.45882554386 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/R | rs761810379 |
-0.677 | 0.81 | N | 0.499 | 0.153 | 0.45882554386 | gnomAD-4.0.0 | 1.24051E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 1.64908E-04 | 8.48186E-07 | 0 | 0 |
| G/V | rs776456385 |
-0.28 | 0.549 | N | 0.518 | 0.223 | 0.506613155829 | gnomAD-2.1.1 | 8.07E-06 | None | None | None | None | N | None | 0 | 5.81E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/V | rs776456385 |
-0.28 | 0.549 | N | 0.518 | 0.223 | 0.506613155829 | gnomAD-4.0.0 | 1.36959E-06 | None | None | None | None | N | None | 0 | 4.47868E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 | 0.1252 | likely_benign | 0.0929 | benign | -0.742 | Destabilizing | 0.201 | N | 0.413 | neutral | N | 0.425416712 | None | None | N |
| G/C | 0.2821 | likely_benign | 0.2197 | benign | -1.231 | Destabilizing | 0.992 | D | 0.523 | neutral | None | None | None | None | N |
| G/D | 0.2215 | likely_benign | 0.1548 | benign | -1.499 | Destabilizing | 0.617 | D | 0.471 | neutral | None | None | None | None | N |
| G/E | 0.233 | likely_benign | 0.1668 | benign | -1.591 | Destabilizing | 0.549 | D | 0.475 | neutral | N | 0.409273824 | None | None | N |
| G/F | 0.5709 | likely_pathogenic | 0.4347 | ambiguous | -1.33 | Destabilizing | 0.92 | D | 0.549 | neutral | None | None | None | None | N |
| G/H | 0.4459 | ambiguous | 0.3133 | benign | -1.099 | Destabilizing | 0.977 | D | 0.484 | neutral | None | None | None | None | N |
| G/I | 0.3638 | ambiguous | 0.2333 | benign | -0.576 | Destabilizing | 0.85 | D | 0.537 | neutral | None | None | None | None | N |
| G/K | 0.5629 | ambiguous | 0.4567 | ambiguous | -1.103 | Destabilizing | 0.447 | N | 0.475 | neutral | None | None | None | None | N |
| G/L | 0.4439 | ambiguous | 0.3045 | benign | -0.576 | Destabilizing | 0.617 | D | 0.507 | neutral | None | None | None | None | N |
| G/M | 0.4481 | ambiguous | 0.3314 | benign | -0.514 | Destabilizing | 0.992 | D | 0.531 | neutral | None | None | None | None | N |
| G/N | 0.2095 | likely_benign | 0.1484 | benign | -0.9 | Destabilizing | 0.447 | N | 0.485 | neutral | None | None | None | None | N |
| G/P | 0.9256 | likely_pathogenic | 0.8687 | pathogenic | -0.595 | Destabilizing | 0.92 | D | 0.487 | neutral | None | None | None | None | N |
| G/Q | 0.3711 | ambiguous | 0.273 | benign | -1.2 | Destabilizing | 0.85 | D | 0.495 | neutral | None | None | None | None | N |
| G/R | 0.4937 | ambiguous | 0.3767 | ambiguous | -0.716 | Destabilizing | 0.81 | D | 0.499 | neutral | N | 0.399403547 | None | None | N |
| G/S | 0.0975 | likely_benign | 0.0743 | benign | -1.101 | Destabilizing | 0.009 | N | 0.097 | neutral | None | None | None | None | N |
| G/T | 0.1255 | likely_benign | 0.093 | benign | -1.129 | Destabilizing | 0.009 | N | 0.227 | neutral | None | None | None | None | N |
| G/V | 0.2403 | likely_benign | 0.1613 | benign | -0.595 | Destabilizing | 0.549 | D | 0.518 | neutral | N | 0.486195812 | None | None | N |
| G/W | 0.5043 | ambiguous | 0.376 | ambiguous | -1.549 | Destabilizing | 0.992 | D | 0.513 | neutral | None | None | None | None | N |
| G/Y | 0.3962 | ambiguous | 0.2818 | benign | -1.158 | Destabilizing | 0.972 | D | 0.551 | 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.