Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17019 | 51280;51281;51282 | chr2:178611074;178611073;178611072 | chr2:179475801;179475800;179475799 |
| N2AB | 15378 | 46357;46358;46359 | chr2:178611074;178611073;178611072 | chr2:179475801;179475800;179475799 |
| N2A | 14451 | 43576;43577;43578 | chr2:178611074;178611073;178611072 | chr2:179475801;179475800;179475799 |
| N2B | 7954 | 24085;24086;24087 | chr2:178611074;178611073;178611072 | chr2:179475801;179475800;179475799 |
| Novex-1 | 8079 | 24460;24461;24462 | chr2:178611074;178611073;178611072 | chr2:179475801;179475800;179475799 |
| Novex-2 | 8146 | 24661;24662;24663 | chr2:178611074;178611073;178611072 | chr2:179475801;179475800;179475799 |
| 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 | rs773394284  |
-0.299 | 0.964 | D | 0.318 | 0.324 | 0.455722563999 | gnomAD-2.1.1 | 3.62E-05 | None | None | None | None | N | None | 0 | 8.71E-05 | None | 0 | 5.61E-05 | None | 1.30762E-04 | None | 0 | 8.89E-06 | 0 |
| R/C | rs773394284 |
-0.299 | 0.964 | D | 0.318 | 0.324 | 0.455722563999 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| R/C | rs773394284 |
-0.299 | 0.964 | D | 0.318 | 0.324 | 0.455722563999 | gnomAD-4.0.0 | 1.7363E-05 | None | None | None | None | N | None | 0 | 5.00567E-05 | None | 0 | 0 | None | 0 | 0 | 1.78089E-05 | 3.29583E-05 | 1.60251E-05 |
| R/H | rs765642042 |
-1.185 | None | N | 0.094 | 0.097 | 0.0297737177859 | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 1.78E-05 | 0 |
| R/H | rs765642042 |
-1.185 | None | N | 0.094 | 0.097 | 0.0297737177859 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| R/H | rs765642042 |
-1.185 | None | N | 0.094 | 0.097 | 0.0297737177859 | gnomAD-4.0.0 | 1.17816E-05 | None | None | None | None | N | None | 0 | 3.33667E-05 | None | 0 | 0 | None | 0 | 0 | 1.18724E-05 | 1.09837E-05 | 3.20492E-05 |
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 | 0.313 | likely_benign | 0.3315 | benign | 0.067 | Stabilizing | 0.031 | N | 0.27 | neutral | None | None | None | None | N |
| R/C | 0.136 | likely_benign | 0.1499 | benign | -0.186 | Destabilizing | 0.964 | D | 0.318 | neutral | D | 0.536354774 | None | None | N |
| R/D | 0.5426 | ambiguous | 0.6052 | pathogenic | -0.199 | Destabilizing | 0.072 | N | 0.322 | neutral | None | None | None | None | N |
| R/E | 0.3448 | ambiguous | 0.3929 | ambiguous | -0.143 | Destabilizing | 0.016 | N | 0.21 | neutral | None | None | None | None | N |
| R/F | 0.3545 | ambiguous | 0.3815 | ambiguous | -0.177 | Destabilizing | 0.214 | N | 0.373 | neutral | None | None | None | None | N |
| R/G | 0.278 | likely_benign | 0.305 | benign | -0.106 | Destabilizing | 0.058 | N | 0.261 | neutral | N | 0.493052726 | None | None | N |
| R/H | 0.065 | likely_benign | 0.0638 | benign | -0.579 | Destabilizing | None | N | 0.094 | neutral | N | 0.438076598 | None | None | N |
| R/I | 0.2736 | likely_benign | 0.305 | benign | 0.483 | Stabilizing | 0.356 | N | 0.375 | neutral | None | None | None | None | N |
| R/K | 0.13 | likely_benign | 0.1486 | benign | -0.087 | Destabilizing | 0.031 | N | 0.225 | neutral | None | None | None | None | N |
| R/L | 0.1666 | likely_benign | 0.1861 | benign | 0.483 | Stabilizing | 0.13 | N | 0.286 | neutral | N | 0.44209345 | None | None | N |
| R/M | 0.3158 | likely_benign | 0.3533 | ambiguous | 0.002 | Stabilizing | 0.628 | D | 0.261 | neutral | None | None | None | None | N |
| R/N | 0.3654 | ambiguous | 0.4133 | ambiguous | 0.045 | Stabilizing | 0.016 | N | 0.169 | neutral | None | None | None | None | N |
| R/P | 0.2585 | likely_benign | 0.2624 | benign | 0.364 | Stabilizing | 0.515 | D | 0.381 | neutral | N | 0.442996347 | None | None | N |
| R/Q | 0.1078 | likely_benign | 0.1217 | benign | -0.012 | Destabilizing | 0.072 | N | 0.171 | neutral | None | None | None | None | N |
| R/S | 0.393 | ambiguous | 0.434 | ambiguous | -0.2 | Destabilizing | 0.058 | N | 0.232 | neutral | N | 0.45450854 | None | None | N |
| R/T | 0.2427 | likely_benign | 0.2723 | benign | -0.022 | Destabilizing | 0.072 | N | 0.261 | neutral | None | None | None | None | N |
| R/V | 0.3224 | likely_benign | 0.3519 | ambiguous | 0.364 | Stabilizing | 0.136 | N | 0.36 | neutral | None | None | None | None | N |
| R/W | 0.1644 | likely_benign | 0.1683 | benign | -0.299 | Destabilizing | 0.864 | D | 0.316 | neutral | None | None | None | None | N |
| R/Y | 0.1933 | likely_benign | 0.2108 | benign | 0.111 | Stabilizing | 0.038 | N | 0.29 | 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.