Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22443 | 67552;67553;67554 | chr2:178579960;178579959;178579958 | chr2:179444687;179444686;179444685 |
| N2AB | 20802 | 62629;62630;62631 | chr2:178579960;178579959;178579958 | chr2:179444687;179444686;179444685 |
| N2A | 19875 | 59848;59849;59850 | chr2:178579960;178579959;178579958 | chr2:179444687;179444686;179444685 |
| N2B | 13378 | 40357;40358;40359 | chr2:178579960;178579959;178579958 | chr2:179444687;179444686;179444685 |
| Novex-1 | 13503 | 40732;40733;40734 | chr2:178579960;178579959;178579958 | chr2:179444687;179444686;179444685 |
| Novex-2 | 13570 | 40933;40934;40935 | chr2:178579960;178579959;178579958 | chr2:179444687;179444686;179444685 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/C | rs1304938868  |
-0.036 | 0.997 | N | 0.343 | 0.245 | 0.495372917472 | gnomAD-2.1.1 | 8.07E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 8.92E-06 | 0 |
| R/C | rs1304938868 |
-0.036 | 0.997 | N | 0.343 | 0.245 | 0.495372917472 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| R/C | rs1304938868 |
-0.036 | 0.997 | N | 0.343 | 0.245 | 0.495372917472 | gnomAD-4.0.0 | 6.41095E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.57909E-06 | 1.34088E-05 | 0 |
| R/H | rs1389670032 |
-0.511 | 0.971 | N | 0.313 | 0.181 | 0.165133752707 | gnomAD-2.1.1 | 1.07E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.16E-05 | None | 0 | None | 0 | 1.57E-05 | 0 |
| R/H | rs1389670032 |
-0.511 | 0.971 | N | 0.313 | 0.181 | 0.165133752707 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.94175E-04 | None | 0 | 0 | 0 | 0 | 0 |
| R/H | rs1389670032 |
-0.511 | 0.971 | N | 0.313 | 0.181 | 0.165133752707 | gnomAD-4.0.0 | 9.91934E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 6.70062E-05 | None | 0 | 0 | 1.0174E-05 | 1.09847E-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 | 0.197 | likely_benign | 0.18 | benign | -0.043 | Destabilizing | 0.002 | N | 0.232 | neutral | None | None | None | None | N |
| R/C | 0.1767 | likely_benign | 0.156 | benign | -0.308 | Destabilizing | 0.997 | D | 0.343 | neutral | N | 0.408289602 | None | None | N |
| R/D | 0.4349 | ambiguous | 0.384 | ambiguous | -0.37 | Destabilizing | 0.524 | D | 0.57 | neutral | None | None | None | None | N |
| R/E | 0.2329 | likely_benign | 0.2139 | benign | -0.343 | Destabilizing | 0.185 | N | 0.377 | neutral | None | None | None | None | N |
| R/F | 0.4622 | ambiguous | 0.4268 | ambiguous | -0.392 | Destabilizing | 0.96 | D | 0.451 | neutral | None | None | None | None | N |
| R/G | 0.1439 | likely_benign | 0.1324 | benign | -0.155 | Destabilizing | 0.304 | N | 0.491 | neutral | N | 0.415754292 | None | None | N |
| R/H | 0.1083 | likely_benign | 0.1017 | benign | -0.62 | Destabilizing | 0.971 | D | 0.313 | neutral | N | 0.445557124 | None | None | N |
| R/I | 0.1972 | likely_benign | 0.18 | benign | 0.206 | Stabilizing | 0.524 | D | 0.527 | neutral | None | None | None | None | N |
| R/K | 0.0822 | likely_benign | 0.0744 | benign | -0.265 | Destabilizing | 0.185 | N | 0.363 | neutral | None | None | None | None | N |
| R/L | 0.1881 | likely_benign | 0.1767 | benign | 0.206 | Stabilizing | 0.465 | N | 0.48 | neutral | N | 0.386756749 | None | None | N |
| R/M | 0.2016 | likely_benign | 0.1852 | benign | -0.149 | Destabilizing | 0.96 | D | 0.346 | neutral | None | None | None | None | N |
| R/N | 0.3753 | ambiguous | 0.3356 | benign | -0.165 | Destabilizing | 0.524 | D | 0.325 | neutral | None | None | None | None | N |
| R/P | 0.2086 | likely_benign | 0.174 | benign | 0.139 | Stabilizing | 0.007 | N | 0.521 | neutral | N | 0.335389354 | None | None | N |
| R/Q | 0.0944 | likely_benign | 0.0885 | benign | -0.204 | Destabilizing | 0.015 | N | 0.323 | neutral | None | None | None | None | N |
| R/S | 0.2748 | likely_benign | 0.2507 | benign | -0.324 | Destabilizing | 0.304 | N | 0.403 | neutral | N | 0.275839618 | None | None | N |
| R/T | 0.1378 | likely_benign | 0.1284 | benign | -0.206 | Destabilizing | 0.015 | N | 0.399 | neutral | None | None | None | None | N |
| R/V | 0.2287 | likely_benign | 0.2047 | benign | 0.139 | Stabilizing | 0.524 | D | 0.515 | neutral | None | None | None | None | N |
| R/W | 0.1732 | likely_benign | 0.154 | benign | -0.593 | Destabilizing | 0.989 | D | 0.331 | neutral | None | None | None | None | N |
| R/Y | 0.348 | ambiguous | 0.3126 | benign | -0.206 | Destabilizing | 0.96 | D | 0.482 | 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.