Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26885 | 80878;80879;80880 | chr2:178565479;178565478;178565477 | chr2:179430206;179430205;179430204 |
| N2AB | 25244 | 75955;75956;75957 | chr2:178565479;178565478;178565477 | chr2:179430206;179430205;179430204 |
| N2A | 24317 | 73174;73175;73176 | chr2:178565479;178565478;178565477 | chr2:179430206;179430205;179430204 |
| N2B | 17820 | 53683;53684;53685 | chr2:178565479;178565478;178565477 | chr2:179430206;179430205;179430204 |
| Novex-1 | 17945 | 54058;54059;54060 | chr2:178565479;178565478;178565477 | chr2:179430206;179430205;179430204 |
| Novex-2 | 18012 | 54259;54260;54261 | chr2:178565479;178565478;178565477 | chr2:179430206;179430205;179430204 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/L | rs1208813595  |
-0.132 | 0.113 | N | 0.427 | 0.129 | 0.364342057095 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.58E-05 | None | 0 | None | 0 | 0 | 0 |
| P/L | rs1208813595 |
-0.132 | 0.113 | N | 0.427 | 0.129 | 0.364342057095 | gnomAD-4.0.0 | 1.59264E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77608E-05 | None | 0 | 0 | 0 | 0 | 0 |
| P/T | rs1305213635 |
None | 0.01 | N | 0.175 | 0.091 | 0.188950314367 | 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 |
| P/T | rs1305213635 |
None | 0.01 | N | 0.175 | 0.091 | 0.188950314367 | gnomAD-4.0.0 | 9.91942E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3565E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.0836 | likely_benign | 0.0866 | benign | -1.085 | Destabilizing | 0.01 | N | 0.168 | neutral | N | 0.468927055 | None | None | N |
| P/C | 0.4481 | ambiguous | 0.4822 | ambiguous | -0.845 | Destabilizing | 0.995 | D | 0.475 | neutral | None | None | None | None | N |
| P/D | 0.4944 | ambiguous | 0.5273 | ambiguous | -0.927 | Destabilizing | 0.828 | D | 0.466 | neutral | None | None | None | None | N |
| P/E | 0.3505 | ambiguous | 0.3713 | ambiguous | -0.887 | Destabilizing | 0.704 | D | 0.454 | neutral | None | None | None | None | N |
| P/F | 0.4537 | ambiguous | 0.4685 | ambiguous | -0.778 | Destabilizing | 0.893 | D | 0.499 | neutral | None | None | None | None | N |
| P/G | 0.2889 | likely_benign | 0.2913 | benign | -1.364 | Destabilizing | 0.495 | N | 0.46 | neutral | None | None | None | None | N |
| P/H | 0.1828 | likely_benign | 0.1906 | benign | -0.615 | Destabilizing | 0.981 | D | 0.453 | neutral | None | None | None | None | N |
| P/I | 0.2533 | likely_benign | 0.2701 | benign | -0.409 | Destabilizing | 0.543 | D | 0.525 | neutral | None | None | None | None | N |
| P/K | 0.3049 | likely_benign | 0.3408 | ambiguous | -0.833 | Destabilizing | 0.543 | D | 0.434 | neutral | None | None | None | None | N |
| P/L | 0.0987 | likely_benign | 0.0947 | benign | -0.409 | Destabilizing | 0.113 | N | 0.427 | neutral | N | 0.462654444 | None | None | N |
| P/M | 0.2337 | likely_benign | 0.2422 | benign | -0.628 | Destabilizing | 0.085 | N | 0.336 | neutral | None | None | None | None | N |
| P/N | 0.2991 | likely_benign | 0.3073 | benign | -0.856 | Destabilizing | 0.828 | D | 0.488 | neutral | None | None | None | None | N |
| P/Q | 0.1552 | likely_benign | 0.1599 | benign | -0.926 | Destabilizing | 0.863 | D | 0.463 | neutral | N | 0.487608816 | None | None | N |
| P/R | 0.1881 | likely_benign | 0.2106 | benign | -0.419 | Destabilizing | 0.006 | N | 0.351 | neutral | N | 0.50781073 | None | None | N |
| P/S | 0.1363 | likely_benign | 0.1306 | benign | -1.312 | Destabilizing | 0.27 | N | 0.406 | neutral | N | 0.47979741 | None | None | N |
| P/T | 0.108 | likely_benign | 0.1089 | benign | -1.153 | Destabilizing | 0.01 | N | 0.175 | neutral | N | 0.470196491 | None | None | N |
| P/V | 0.1721 | likely_benign | 0.1861 | benign | -0.603 | Destabilizing | 0.329 | N | 0.429 | neutral | None | None | None | None | N |
| P/W | 0.6113 | likely_pathogenic | 0.6147 | pathogenic | -0.938 | Destabilizing | 0.995 | D | 0.491 | neutral | None | None | None | None | N |
| P/Y | 0.3913 | ambiguous | 0.423 | ambiguous | -0.619 | Destabilizing | 0.944 | D | 0.508 | 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.