Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20313 | 61162;61163;61164 | chr2:178590788;178590787;178590786 | chr2:179455515;179455514;179455513 |
| N2AB | 18672 | 56239;56240;56241 | chr2:178590788;178590787;178590786 | chr2:179455515;179455514;179455513 |
| N2A | 17745 | 53458;53459;53460 | chr2:178590788;178590787;178590786 | chr2:179455515;179455514;179455513 |
| N2B | 11248 | 33967;33968;33969 | chr2:178590788;178590787;178590786 | chr2:179455515;179455514;179455513 |
| Novex-1 | 11373 | 34342;34343;34344 | chr2:178590788;178590787;178590786 | chr2:179455515;179455514;179455513 |
| Novex-2 | 11440 | 34543;34544;34545 | chr2:178590788;178590787;178590786 | chr2:179455515;179455514;179455513 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/I | rs773846604  |
-0.353 | None | N | 0.119 | 0.158 | 0.132336055621 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| V/I | rs773846604 |
-0.353 | None | N | 0.119 | 0.158 | 0.132336055621 | gnomAD-4.0.0 | 2.74859E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.61342E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.1087 | likely_benign | 0.1196 | benign | -0.728 | Destabilizing | None | N | 0.117 | neutral | N | 0.429091735 | None | None | N |
| V/C | 0.4918 | ambiguous | 0.5335 | ambiguous | -0.654 | Destabilizing | 0.245 | N | 0.433 | neutral | None | None | None | None | N |
| V/D | 0.2483 | likely_benign | 0.2629 | benign | -0.541 | Destabilizing | 0.085 | N | 0.565 | neutral | None | None | None | None | N |
| V/E | 0.1939 | likely_benign | 0.2046 | benign | -0.654 | Destabilizing | 0.014 | N | 0.485 | neutral | N | 0.427936942 | None | None | N |
| V/F | 0.12 | likely_benign | 0.1447 | benign | -0.896 | Destabilizing | 0.022 | N | 0.441 | neutral | None | None | None | None | N |
| V/G | 0.1421 | likely_benign | 0.1462 | benign | -0.887 | Destabilizing | 0.007 | N | 0.485 | neutral | N | 0.400041052 | None | None | N |
| V/H | 0.3312 | likely_benign | 0.3921 | ambiguous | -0.403 | Destabilizing | 0.497 | N | 0.535 | neutral | None | None | None | None | N |
| V/I | 0.0612 | likely_benign | 0.0658 | benign | -0.453 | Destabilizing | None | N | 0.119 | neutral | N | 0.463801742 | None | None | N |
| V/K | 0.1801 | likely_benign | 0.1808 | benign | -0.596 | Destabilizing | None | N | 0.194 | neutral | None | None | None | None | N |
| V/L | 0.0866 | likely_benign | 0.1115 | benign | -0.453 | Destabilizing | None | N | 0.099 | neutral | N | 0.433478835 | None | None | N |
| V/M | 0.0772 | likely_benign | 0.0929 | benign | -0.36 | Destabilizing | 0.001 | N | 0.233 | neutral | None | None | None | None | N |
| V/N | 0.136 | likely_benign | 0.1479 | benign | -0.285 | Destabilizing | 0.085 | N | 0.539 | neutral | None | None | None | None | N |
| V/P | 0.2811 | likely_benign | 0.3131 | benign | -0.509 | Destabilizing | 0.085 | N | 0.509 | neutral | None | None | None | None | N |
| V/Q | 0.1939 | likely_benign | 0.2121 | benign | -0.579 | Destabilizing | 0.044 | N | 0.507 | neutral | None | None | None | None | N |
| V/R | 0.1785 | likely_benign | 0.1872 | benign | 0.003 | Stabilizing | 0.009 | N | 0.507 | neutral | None | None | None | None | N |
| V/S | 0.1321 | likely_benign | 0.1368 | benign | -0.672 | Destabilizing | 0.009 | N | 0.442 | neutral | None | None | None | None | N |
| V/T | 0.1163 | likely_benign | 0.1281 | benign | -0.687 | Destabilizing | 0.018 | N | 0.275 | neutral | None | None | None | None | N |
| V/W | 0.5423 | ambiguous | 0.6745 | pathogenic | -0.946 | Destabilizing | 0.788 | D | 0.517 | neutral | None | None | None | None | N |
| V/Y | 0.3178 | likely_benign | 0.371 | ambiguous | -0.661 | Destabilizing | 0.085 | N | 0.451 | 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.