Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24111 | 72556;72557;72558 | chr2:178573801;178573800;178573799 | chr2:179438528;179438527;179438526 |
| N2AB | 22470 | 67633;67634;67635 | chr2:178573801;178573800;178573799 | chr2:179438528;179438527;179438526 |
| N2A | 21543 | 64852;64853;64854 | chr2:178573801;178573800;178573799 | chr2:179438528;179438527;179438526 |
| N2B | 15046 | 45361;45362;45363 | chr2:178573801;178573800;178573799 | chr2:179438528;179438527;179438526 |
| Novex-1 | 15171 | 45736;45737;45738 | chr2:178573801;178573800;178573799 | chr2:179438528;179438527;179438526 |
| Novex-2 | 15238 | 45937;45938;45939 | chr2:178573801;178573800;178573799 | chr2:179438528;179438527;179438526 |
| 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/P | rs369671334  |
-0.121 | 0.991 | N | 0.764 | 0.533 | None | gnomAD-2.1.1 | 7.54E-05 | None | None | None | None | N | None | 4.14E-05 | 2.86E-05 | None | 0 | 0 | None | 0 | None | 0 | 1.49099E-04 | 0 |
| A/P | rs369671334 |
-0.121 | 0.991 | N | 0.764 | 0.533 | None | gnomAD-3.1.2 | 7.23E-05 | None | None | None | None | N | None | 2.41E-05 | 1.31027E-04 | 0 | 0 | 0 | None | 0 | 0 | 1.17668E-04 | 0 | 0 |
| A/P | rs369671334 |
-0.121 | 0.991 | N | 0.764 | 0.533 | None | gnomAD-4.0.0 | 4.5321E-05 | None | None | None | None | N | None | 1.33672E-05 | 6.69882E-05 | None | 0 | 0 | None | 0 | 0 | 5.34768E-05 | 0 | 8.02259E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.4653 | ambiguous | 0.4953 | ambiguous | -0.814 | Destabilizing | 0.999 | D | 0.701 | prob.neutral | None | None | None | None | N |
| A/D | 0.4919 | ambiguous | 0.4869 | ambiguous | -0.664 | Destabilizing | 0.982 | D | 0.759 | deleterious | N | 0.495541306 | None | None | N |
| A/E | 0.4305 | ambiguous | 0.4222 | ambiguous | -0.749 | Destabilizing | 0.986 | D | 0.706 | prob.neutral | None | None | None | None | N |
| A/F | 0.5373 | ambiguous | 0.5622 | ambiguous | -0.821 | Destabilizing | 0.993 | D | 0.781 | deleterious | None | None | None | None | N |
| A/G | 0.2354 | likely_benign | 0.2238 | benign | -0.723 | Destabilizing | 0.939 | D | 0.567 | neutral | N | 0.507688286 | None | None | N |
| A/H | 0.6651 | likely_pathogenic | 0.6571 | pathogenic | -0.744 | Destabilizing | 0.999 | D | 0.745 | deleterious | None | None | None | None | N |
| A/I | 0.3608 | ambiguous | 0.4064 | ambiguous | -0.284 | Destabilizing | 0.91 | D | 0.673 | neutral | None | None | None | None | N |
| A/K | 0.6711 | likely_pathogenic | 0.6742 | pathogenic | -0.98 | Destabilizing | 0.986 | D | 0.723 | prob.delet. | None | None | None | None | N |
| A/L | 0.31 | likely_benign | 0.3293 | benign | -0.284 | Destabilizing | 0.91 | D | 0.567 | neutral | None | None | None | None | N |
| A/M | 0.3405 | ambiguous | 0.3845 | ambiguous | -0.392 | Destabilizing | 0.998 | D | 0.735 | prob.delet. | None | None | None | None | N |
| A/N | 0.5229 | ambiguous | 0.5217 | ambiguous | -0.69 | Destabilizing | 0.986 | D | 0.767 | deleterious | None | None | None | None | N |
| A/P | 0.985 | likely_pathogenic | 0.9809 | pathogenic | -0.335 | Destabilizing | 0.991 | D | 0.764 | deleterious | N | 0.504979261 | None | None | N |
| A/Q | 0.4557 | ambiguous | 0.4174 | ambiguous | -0.884 | Destabilizing | 0.993 | D | 0.766 | deleterious | None | None | None | None | N |
| A/R | 0.5873 | likely_pathogenic | 0.5638 | ambiguous | -0.554 | Destabilizing | 0.993 | D | 0.762 | deleterious | None | None | None | None | N |
| A/S | 0.1119 | likely_benign | 0.1068 | benign | -0.965 | Destabilizing | 0.885 | D | 0.537 | neutral | D | 0.532251468 | None | None | N |
| A/T | 0.1 | likely_benign | 0.1071 | benign | -0.957 | Destabilizing | 0.322 | N | 0.393 | neutral | N | 0.48634582 | None | None | N |
| A/V | 0.1694 | likely_benign | 0.1957 | benign | -0.335 | Destabilizing | 0.322 | N | 0.4 | neutral | N | 0.487940543 | None | None | N |
| A/W | 0.9027 | likely_pathogenic | 0.903 | pathogenic | -1.066 | Destabilizing | 0.999 | D | 0.743 | deleterious | None | None | None | None | N |
| A/Y | 0.6974 | likely_pathogenic | 0.7099 | pathogenic | -0.688 | Destabilizing | 0.998 | D | 0.767 | deleterious | 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.