Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9094 | 27505;27506;27507 | chr2:178712745;178712744;178712743 | chr2:179577472;179577471;179577470 |
| N2AB | 8777 | 26554;26555;26556 | chr2:178712745;178712744;178712743 | chr2:179577472;179577471;179577470 |
| N2A | 7850 | 23773;23774;23775 | chr2:178712745;178712744;178712743 | chr2:179577472;179577471;179577470 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/G | rs768623560  |
-1.452 | 0.117 | N | 0.441 | 0.269 | 0.20549828249 | gnomAD-2.1.1 | 1.79E-05 | None | None | None | None | N | None | 0 | 1.41571E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/G | rs768623560 |
-1.452 | 0.117 | N | 0.441 | 0.269 | 0.20549828249 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.54E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/G | rs768623560 |
-1.452 | 0.117 | N | 0.441 | 0.269 | 0.20549828249 | gnomAD-4.0.0 | 5.12397E-06 | None | None | None | None | N | None | 0 | 6.77805E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/I | None | None | 0.004 | D | 0.465 | 0.176 | 0.404315859256 | gnomAD-4.0.0 | 1.59136E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85847E-06 | 0 | 0 |
| S/N | rs1256219559 |
-0.624 | 0.117 | N | 0.508 | 0.223 | 0.151104730317 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/N | rs1256219559 |
-0.624 | 0.117 | N | 0.508 | 0.223 | 0.151104730317 | gnomAD-4.0.0 | 1.59136E-06 | None | None | None | None | N | None | 0 | 2.28676E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0825 | likely_benign | 0.0845 | benign | -0.854 | Destabilizing | 0.035 | N | 0.455 | neutral | None | None | None | None | N |
| S/C | 0.1334 | likely_benign | 0.1377 | benign | -0.739 | Destabilizing | 0.78 | D | 0.481 | neutral | N | 0.521651485 | None | None | N |
| S/D | 0.4116 | ambiguous | 0.4163 | ambiguous | -0.57 | Destabilizing | 0.149 | N | 0.483 | neutral | None | None | None | None | N |
| S/E | 0.4587 | ambiguous | 0.4566 | ambiguous | -0.56 | Destabilizing | 0.081 | N | 0.451 | neutral | None | None | None | None | N |
| S/F | 0.1457 | likely_benign | 0.1654 | benign | -1.064 | Destabilizing | 0.555 | D | 0.587 | neutral | None | None | None | None | N |
| S/G | 0.1056 | likely_benign | 0.1115 | benign | -1.102 | Destabilizing | 0.117 | N | 0.441 | neutral | N | 0.507888869 | None | None | N |
| S/H | 0.2681 | likely_benign | 0.278 | benign | -1.558 | Destabilizing | 0.824 | D | 0.48 | neutral | None | None | None | None | N |
| S/I | 0.1687 | likely_benign | 0.1807 | benign | -0.295 | Destabilizing | 0.004 | N | 0.465 | neutral | D | 0.523266625 | None | None | N |
| S/K | 0.524 | ambiguous | 0.53 | ambiguous | -0.737 | Destabilizing | 0.081 | N | 0.449 | neutral | None | None | None | None | N |
| S/L | 0.0972 | likely_benign | 0.1048 | benign | -0.295 | Destabilizing | 0.081 | N | 0.548 | neutral | None | None | None | None | N |
| S/M | 0.1798 | likely_benign | 0.1811 | benign | -0.016 | Destabilizing | 0.555 | D | 0.493 | neutral | None | None | None | None | N |
| S/N | 0.124 | likely_benign | 0.1257 | benign | -0.789 | Destabilizing | 0.117 | N | 0.508 | neutral | N | 0.503431871 | None | None | N |
| S/P | 0.8716 | likely_pathogenic | 0.8917 | pathogenic | -0.449 | Destabilizing | 0.555 | D | 0.487 | neutral | None | None | None | None | N |
| S/Q | 0.4052 | ambiguous | 0.4131 | ambiguous | -0.976 | Destabilizing | 0.016 | N | 0.289 | neutral | None | None | None | None | N |
| S/R | 0.3933 | ambiguous | 0.4018 | ambiguous | -0.612 | Destabilizing | 0.317 | N | 0.471 | neutral | N | 0.486466478 | None | None | N |
| S/T | 0.0683 | likely_benign | 0.0684 | benign | -0.792 | Destabilizing | None | N | 0.134 | neutral | N | 0.476528684 | None | None | N |
| S/V | 0.175 | likely_benign | 0.1852 | benign | -0.449 | Destabilizing | 0.081 | N | 0.546 | neutral | None | None | None | None | N |
| S/W | 0.2401 | likely_benign | 0.2608 | benign | -1.011 | Destabilizing | 0.935 | D | 0.673 | neutral | None | None | None | None | N |
| S/Y | 0.1442 | likely_benign | 0.1538 | benign | -0.737 | Destabilizing | 0.555 | D | 0.586 | 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.