Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7175 | 21748;21749;21750 | chr2:178723577;178723576;178723575 | chr2:179588304;179588303;179588302 |
| N2AB | 6858 | 20797;20798;20799 | chr2:178723577;178723576;178723575 | chr2:179588304;179588303;179588302 |
| N2A | 5931 | 18016;18017;18018 | chr2:178723577;178723576;178723575 | chr2:179588304;179588303;179588302 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/G | rs373166589  |
-0.131 | 0.042 | N | 0.289 | 0.319 | None | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | N | None | 0 | 2.91E-05 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| R/G | rs373166589 |
-0.131 | 0.042 | N | 0.289 | 0.319 | None | 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 | rs373166589 |
-0.131 | 0.042 | N | 0.289 | 0.319 | None | gnomAD-4.0.0 | 4.33886E-06 | None | None | None | None | N | None | 0 | 1.66834E-05 | None | 0 | 0 | None | 0 | 0 | 4.23871E-06 | 0 | 1.60205E-05 |
| R/S | None | None | None | N | 0.169 | 0.315 | 0.0401082797425 | gnomAD-4.0.0 | 1.5922E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85976E-06 | 0 | 0 |
| R/T | rs1578045796 |
None | 0.042 | N | 0.308 | 0.283 | 0.307966526162 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| R/T | rs1578045796 |
None | 0.042 | N | 0.308 | 0.283 | 0.307966526162 | gnomAD-4.0.0 | 6.57263E-06 | None | None | None | None | N | None | 2.4115E-05 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.1477 | likely_benign | 0.1631 | benign | -0.175 | Destabilizing | 0.025 | N | 0.241 | neutral | None | None | None | None | N |
| R/C | 0.1822 | likely_benign | 0.2253 | benign | -0.347 | Destabilizing | 0.958 | D | 0.264 | neutral | None | None | None | None | N |
| R/D | 0.2912 | likely_benign | 0.3347 | benign | 0.025 | Stabilizing | 0.055 | N | 0.327 | neutral | None | None | None | None | N |
| R/E | 0.1539 | likely_benign | 0.1719 | benign | 0.128 | Stabilizing | 0.055 | N | 0.221 | neutral | None | None | None | None | N |
| R/F | 0.3275 | likely_benign | 0.3691 | ambiguous | -0.201 | Destabilizing | 0.667 | D | 0.311 | neutral | None | None | None | None | N |
| R/G | 0.1007 | likely_benign | 0.1226 | benign | -0.429 | Destabilizing | 0.042 | N | 0.289 | neutral | N | 0.490172772 | None | None | N |
| R/H | 0.0947 | likely_benign | 0.1031 | benign | -0.838 | Destabilizing | 0.667 | D | 0.285 | neutral | None | None | None | None | N |
| R/I | 0.1398 | likely_benign | 0.1537 | benign | 0.475 | Stabilizing | 0.301 | N | 0.375 | neutral | N | 0.509566609 | None | None | N |
| R/K | 0.078 | likely_benign | 0.0852 | benign | -0.222 | Destabilizing | None | N | 0.184 | neutral | N | 0.443666904 | None | None | N |
| R/L | 0.1437 | likely_benign | 0.162 | benign | 0.475 | Stabilizing | 0.104 | N | 0.321 | neutral | None | None | None | None | N |
| R/M | 0.1339 | likely_benign | 0.147 | benign | -0.061 | Destabilizing | 0.859 | D | 0.309 | neutral | None | None | None | None | N |
| R/N | 0.2409 | likely_benign | 0.2679 | benign | -0.018 | Destabilizing | None | N | 0.213 | neutral | None | None | None | None | N |
| R/P | 0.4748 | ambiguous | 0.546 | ambiguous | 0.28 | Stabilizing | 0.364 | N | 0.42 | neutral | None | None | None | None | N |
| R/Q | 0.0792 | likely_benign | 0.0846 | benign | -0.078 | Destabilizing | 0.124 | N | 0.294 | neutral | None | None | None | None | N |
| R/S | 0.17 | likely_benign | 0.1881 | benign | -0.489 | Destabilizing | None | N | 0.169 | neutral | N | 0.453843825 | None | None | N |
| R/T | 0.0869 | likely_benign | 0.0929 | benign | -0.224 | Destabilizing | 0.042 | N | 0.308 | neutral | N | 0.454193329 | None | None | N |
| R/V | 0.1691 | likely_benign | 0.1829 | benign | 0.28 | Stabilizing | 0.22 | N | 0.411 | neutral | None | None | None | None | N |
| R/W | 0.1255 | likely_benign | 0.1375 | benign | -0.133 | Destabilizing | 0.958 | D | 0.266 | neutral | None | None | None | None | N |
| R/Y | 0.2594 | likely_benign | 0.2974 | benign | 0.24 | Stabilizing | 0.859 | D | 0.331 | 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.