Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2506 | 7741;7742;7743 | chr2:178773540;178773539;178773538 | chr2:179638267;179638266;179638265 |
| N2AB | 2506 | 7741;7742;7743 | chr2:178773540;178773539;178773538 | chr2:179638267;179638266;179638265 |
| N2A | 2506 | 7741;7742;7743 | chr2:178773540;178773539;178773538 | chr2:179638267;179638266;179638265 |
| N2B | 2460 | 7603;7604;7605 | chr2:178773540;178773539;178773538 | chr2:179638267;179638266;179638265 |
| Novex-1 | 2460 | 7603;7604;7605 | chr2:178773540;178773539;178773538 | chr2:179638267;179638266;179638265 |
| Novex-2 | 2460 | 7603;7604;7605 | chr2:178773540;178773539;178773538 | chr2:179638267;179638266;179638265 |
| Novex-3 | 2506 | 7741;7742;7743 | chr2:178773540;178773539;178773538 | chr2:179638267;179638266;179638265 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/G | rs780415493  |
None | 1.0 | N | 0.636 | 0.315 | 0.438064232554 | 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 |
| R/G | rs780415493 |
None | 1.0 | N | 0.636 | 0.315 | 0.438064232554 | gnomAD-4.0.0 | 1.11534E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.52546E-05 | 0 | 0 |
| R/Q | rs758719859 |
0.118 | 1.0 | N | 0.737 | 0.283 | 0.156986980423 | gnomAD-2.1.1 | 2.83E-05 | None | None | None | None | N | None | 1.20183E-04 | 8.47E-05 | None | 0 | 5.03E-05 | None | 3.27E-05 | None | 0 | 0 | 0 |
| R/Q | rs758719859 |
0.118 | 1.0 | N | 0.737 | 0.283 | 0.156986980423 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| R/Q | rs758719859 |
0.118 | 1.0 | N | 0.737 | 0.283 | 0.156986980423 | gnomAD-4.0.0 | 1.05337E-05 | None | None | None | None | N | None | 5.33931E-05 | 8.33861E-05 | None | 0 | 4.45772E-05 | None | 0 | 0 | 3.38994E-06 | 2.19626E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.5578 | ambiguous | 0.5097 | ambiguous | -0.327 | Destabilizing | 0.999 | D | 0.613 | neutral | None | None | None | None | N |
| R/C | 0.2698 | likely_benign | 0.2432 | benign | -0.102 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| R/D | 0.7488 | likely_pathogenic | 0.7067 | pathogenic | 0.016 | Stabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| R/E | 0.5071 | ambiguous | 0.4526 | ambiguous | 0.118 | Stabilizing | 0.999 | D | 0.672 | neutral | None | None | None | None | N |
| R/F | 0.7058 | likely_pathogenic | 0.6557 | pathogenic | -0.288 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| R/G | 0.3904 | ambiguous | 0.3406 | ambiguous | -0.617 | Destabilizing | 1.0 | D | 0.636 | neutral | N | 0.448147105 | None | None | N |
| R/H | 0.1386 | likely_benign | 0.1288 | benign | -1.153 | Destabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | N |
| R/I | 0.4424 | ambiguous | 0.3863 | ambiguous | 0.437 | Stabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| R/K | 0.1199 | likely_benign | 0.1062 | benign | -0.314 | Destabilizing | 0.998 | D | 0.527 | neutral | None | None | None | None | N |
| R/L | 0.4068 | ambiguous | 0.3649 | ambiguous | 0.437 | Stabilizing | 1.0 | D | 0.636 | neutral | D | 0.552107225 | None | None | N |
| R/M | 0.4092 | ambiguous | 0.3515 | ambiguous | 0.146 | Stabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | N |
| R/N | 0.6051 | likely_pathogenic | 0.5536 | ambiguous | 0.243 | Stabilizing | 1.0 | D | 0.752 | deleterious | None | None | None | None | N |
| R/P | 0.9311 | likely_pathogenic | 0.9212 | pathogenic | 0.205 | Stabilizing | 1.0 | D | 0.723 | prob.delet. | N | 0.467633291 | None | None | N |
| R/Q | 0.1378 | likely_benign | 0.1284 | benign | 0.074 | Stabilizing | 1.0 | D | 0.737 | prob.delet. | N | 0.450821695 | None | None | N |
| R/S | 0.6046 | likely_pathogenic | 0.5496 | ambiguous | -0.337 | Destabilizing | 1.0 | D | 0.7 | prob.neutral | None | None | None | None | N |
| R/T | 0.354 | ambiguous | 0.3084 | benign | -0.067 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | N |
| R/V | 0.539 | ambiguous | 0.4816 | ambiguous | 0.205 | Stabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| R/W | 0.298 | likely_benign | 0.2726 | benign | -0.096 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | N |
| R/Y | 0.5046 | ambiguous | 0.4642 | ambiguous | 0.248 | Stabilizing | 1.0 | D | 0.75 | 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.