Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3141 | 9646;9647;9648 | chr2:178767809;178767808;178767807 | chr2:179632536;179632535;179632534 |
| N2AB | 3141 | 9646;9647;9648 | chr2:178767809;178767808;178767807 | chr2:179632536;179632535;179632534 |
| N2A | 3141 | 9646;9647;9648 | chr2:178767809;178767808;178767807 | chr2:179632536;179632535;179632534 |
| N2B | 3095 | 9508;9509;9510 | chr2:178767809;178767808;178767807 | chr2:179632536;179632535;179632534 |
| Novex-1 | 3095 | 9508;9509;9510 | chr2:178767809;178767808;178767807 | chr2:179632536;179632535;179632534 |
| Novex-2 | 3095 | 9508;9509;9510 | chr2:178767809;178767808;178767807 | chr2:179632536;179632535;179632534 |
| Novex-3 | 3141 | 9646;9647;9648 | chr2:178767809;178767808;178767807 | chr2:179632536;179632535;179632534 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/V | rs1423594676  |
-0.845 | None | N | 0.1 | 0.087 | 0.190952846119 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | N | None | 6.15E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| F/V | rs1423594676 |
-0.845 | None | N | 0.1 | 0.087 | 0.190952846119 | gnomAD-4.0.0 | 1.59052E-06 | None | None | None | None | N | None | 5.65163E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.4033 | ambiguous | 0.5208 | ambiguous | -2.199 | Highly Destabilizing | 0.007 | N | 0.183 | neutral | None | None | None | None | N |
| F/C | 0.4047 | ambiguous | 0.4718 | ambiguous | -0.826 | Destabilizing | 0.56 | D | 0.229 | neutral | N | 0.323587894 | None | None | N |
| F/D | 0.6674 | likely_pathogenic | 0.7374 | pathogenic | -0.802 | Destabilizing | 0.072 | N | 0.336 | neutral | None | None | None | None | N |
| F/E | 0.7113 | likely_pathogenic | 0.7785 | pathogenic | -0.747 | Destabilizing | 0.072 | N | 0.327 | neutral | None | None | None | None | N |
| F/G | 0.7737 | likely_pathogenic | 0.8414 | pathogenic | -2.511 | Highly Destabilizing | 0.016 | N | 0.279 | neutral | None | None | None | None | N |
| F/H | 0.3981 | ambiguous | 0.4544 | ambiguous | -0.801 | Destabilizing | 0.214 | N | 0.222 | neutral | None | None | None | None | N |
| F/I | 0.1294 | likely_benign | 0.1933 | benign | -1.272 | Destabilizing | None | N | 0.087 | neutral | N | 0.331617855 | None | None | N |
| F/K | 0.7996 | likely_pathogenic | 0.8712 | pathogenic | -1.065 | Destabilizing | 0.038 | N | 0.315 | neutral | None | None | None | None | N |
| F/L | 0.6694 | likely_pathogenic | 0.7689 | pathogenic | -1.272 | Destabilizing | None | N | 0.095 | neutral | N | 0.349708395 | None | None | N |
| F/M | 0.3709 | ambiguous | 0.4979 | ambiguous | -0.838 | Destabilizing | 0.007 | N | 0.115 | neutral | None | None | None | None | N |
| F/N | 0.43 | ambiguous | 0.5038 | ambiguous | -0.972 | Destabilizing | 0.038 | N | 0.364 | neutral | None | None | None | None | N |
| F/P | 0.9949 | likely_pathogenic | 0.9963 | pathogenic | -1.573 | Destabilizing | 0.136 | N | 0.357 | neutral | None | None | None | None | N |
| F/Q | 0.6589 | likely_pathogenic | 0.73 | pathogenic | -1.107 | Destabilizing | 0.214 | N | 0.33 | neutral | None | None | None | None | N |
| F/R | 0.6913 | likely_pathogenic | 0.77 | pathogenic | -0.353 | Destabilizing | 0.072 | N | 0.347 | neutral | None | None | None | None | N |
| F/S | 0.2715 | likely_benign | 0.3414 | ambiguous | -1.743 | Destabilizing | 0.001 | N | 0.187 | neutral | N | 0.345476996 | None | None | N |
| F/T | 0.2476 | likely_benign | 0.324 | benign | -1.601 | Destabilizing | None | N | 0.138 | neutral | None | None | None | None | N |
| F/V | 0.1479 | likely_benign | 0.2105 | benign | -1.573 | Destabilizing | None | N | 0.1 | neutral | N | 0.332896859 | None | None | N |
| F/W | 0.4508 | ambiguous | 0.4847 | ambiguous | -0.564 | Destabilizing | 0.356 | N | 0.271 | neutral | None | None | None | None | N |
| F/Y | 0.1285 | likely_benign | 0.1208 | benign | -0.752 | Destabilizing | None | N | 0.111 | neutral | N | 0.343179235 | 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.