Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25450 | 76573;76574;76575 | chr2:178569784;178569783;178569782 | chr2:179434511;179434510;179434509 |
| N2AB | 23809 | 71650;71651;71652 | chr2:178569784;178569783;178569782 | chr2:179434511;179434510;179434509 |
| N2A | 22882 | 68869;68870;68871 | chr2:178569784;178569783;178569782 | chr2:179434511;179434510;179434509 |
| N2B | 16385 | 49378;49379;49380 | chr2:178569784;178569783;178569782 | chr2:179434511;179434510;179434509 |
| Novex-1 | 16510 | 49753;49754;49755 | chr2:178569784;178569783;178569782 | chr2:179434511;179434510;179434509 |
| Novex-2 | 16577 | 49954;49955;49956 | chr2:178569784;178569783;178569782 | chr2:179434511;179434510;179434509 |
| 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/D | rs748296171  |
-0.186 | 0.003 | N | 0.227 | 0.228 | 0.213573922156 | 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 |
| G/D | rs748296171 |
-0.186 | 0.003 | N | 0.227 | 0.228 | 0.213573922156 | gnomAD-4.0.0 | 7.52842E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 3.47343E-04 | 6.297E-06 | 1.15969E-05 | 1.65706E-05 |
| G/S | rs770136413 |
-0.332 | 0.684 | N | 0.311 | 0.243 | 0.309530620856 | gnomAD-2.1.1 | 4.65E-05 | None | None | None | None | N | None | 8.27E-05 | 0 | None | 9.68E-05 | 0 | None | 2.9431E-04 | None | 0 | 0 | 1.40528E-04 |
| G/S | rs770136413 |
-0.332 | 0.684 | N | 0.311 | 0.243 | 0.309530620856 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07469E-04 | 4.78469E-04 |
| G/S | rs770136413 |
-0.332 | 0.684 | N | 0.311 | 0.243 | 0.309530620856 | gnomAD-4.0.0 | 1.17787E-05 | None | None | None | None | N | None | 2.67208E-05 | 0 | None | 3.38066E-05 | 0 | None | 0 | 0 | 0 | 1.53762E-04 | 3.20338E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.1426 | likely_benign | 0.1234 | benign | -0.461 | Destabilizing | 0.472 | N | 0.353 | neutral | N | 0.468594273 | None | None | N |
| G/C | 0.2455 | likely_benign | 0.2454 | benign | -0.722 | Destabilizing | 0.994 | D | 0.529 | neutral | N | 0.497999097 | None | None | N |
| G/D | 0.1495 | likely_benign | 0.1522 | benign | -0.565 | Destabilizing | 0.003 | N | 0.227 | neutral | N | 0.413991784 | None | None | N |
| G/E | 0.1486 | likely_benign | 0.1414 | benign | -0.716 | Destabilizing | 0.009 | N | 0.275 | neutral | None | None | None | None | N |
| G/F | 0.635 | likely_pathogenic | 0.6103 | pathogenic | -1.128 | Destabilizing | 0.953 | D | 0.483 | neutral | None | None | None | None | N |
| G/H | 0.3649 | ambiguous | 0.3609 | ambiguous | -0.841 | Destabilizing | 0.987 | D | 0.442 | neutral | None | None | None | None | N |
| G/I | 0.3979 | ambiguous | 0.3488 | ambiguous | -0.485 | Destabilizing | 0.835 | D | 0.447 | neutral | None | None | None | None | N |
| G/K | 0.2631 | likely_benign | 0.2587 | benign | -0.902 | Destabilizing | 0.59 | D | 0.349 | neutral | None | None | None | None | N |
| G/L | 0.4108 | ambiguous | 0.3787 | ambiguous | -0.485 | Destabilizing | 0.59 | D | 0.389 | neutral | None | None | None | None | N |
| G/M | 0.4681 | ambiguous | 0.4353 | ambiguous | -0.399 | Destabilizing | 0.987 | D | 0.489 | neutral | None | None | None | None | N |
| G/N | 0.2181 | likely_benign | 0.2274 | benign | -0.449 | Destabilizing | 0.742 | D | 0.305 | neutral | None | None | None | None | N |
| G/P | 0.5926 | likely_pathogenic | 0.5624 | ambiguous | -0.441 | Destabilizing | 0.953 | D | 0.433 | neutral | None | None | None | None | N |
| G/Q | 0.2417 | likely_benign | 0.233 | benign | -0.728 | Destabilizing | 0.835 | D | 0.425 | neutral | None | None | None | None | N |
| G/R | 0.2069 | likely_benign | 0.2038 | benign | -0.478 | Destabilizing | 0.884 | D | 0.435 | neutral | N | 0.490124338 | None | None | N |
| G/S | 0.1107 | likely_benign | 0.1058 | benign | -0.624 | Destabilizing | 0.684 | D | 0.311 | neutral | N | 0.481368782 | None | None | N |
| G/T | 0.1794 | likely_benign | 0.1544 | benign | -0.704 | Destabilizing | 0.742 | D | 0.35 | neutral | None | None | None | None | N |
| G/V | 0.2714 | likely_benign | 0.2267 | benign | -0.441 | Destabilizing | 0.063 | N | 0.372 | neutral | N | 0.487180034 | None | None | N |
| G/W | 0.4617 | ambiguous | 0.4454 | ambiguous | -1.32 | Destabilizing | 0.996 | D | 0.538 | neutral | None | None | None | None | N |
| G/Y | 0.4558 | ambiguous | 0.4541 | ambiguous | -0.964 | Destabilizing | 0.984 | D | 0.478 | 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.