Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2661 | 8206;8207;8208 | chr2:178771346;178771345;178771344 | chr2:179636073;179636072;179636071 |
| N2AB | 2661 | 8206;8207;8208 | chr2:178771346;178771345;178771344 | chr2:179636073;179636072;179636071 |
| N2A | 2661 | 8206;8207;8208 | chr2:178771346;178771345;178771344 | chr2:179636073;179636072;179636071 |
| N2B | 2615 | 8068;8069;8070 | chr2:178771346;178771345;178771344 | chr2:179636073;179636072;179636071 |
| Novex-1 | 2615 | 8068;8069;8070 | chr2:178771346;178771345;178771344 | chr2:179636073;179636072;179636071 |
| Novex-2 | 2615 | 8068;8069;8070 | chr2:178771346;178771345;178771344 | chr2:179636073;179636072;179636071 |
| Novex-3 | 2661 | 8206;8207;8208 | chr2:178771346;178771345;178771344 | chr2:179636073;179636072;179636071 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/P | rs781227223  |
-0.166 | 0.004 | N | 0.303 | 0.218 | 0.491455083755 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| L/P | rs781227223 |
-0.166 | 0.004 | N | 0.303 | 0.218 | 0.491455083755 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 9.41E-05 | 0 | 0 | 0 | 0 |
| L/P | rs781227223 |
-0.166 | 0.004 | N | 0.303 | 0.218 | 0.491455083755 | gnomAD-4.0.0 | 2.5612E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.56833E-05 | 0 | 0 | 1.33994E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.1389 | likely_benign | 0.147 | benign | -1.111 | Destabilizing | 0.129 | N | 0.367 | neutral | None | None | None | None | N |
| L/C | 0.4159 | ambiguous | 0.4086 | ambiguous | -0.857 | Destabilizing | 0.983 | D | 0.346 | neutral | None | None | None | None | N |
| L/D | 0.3532 | ambiguous | 0.3714 | ambiguous | -0.514 | Destabilizing | 0.716 | D | 0.385 | neutral | None | None | None | None | N |
| L/E | 0.1863 | likely_benign | 0.1912 | benign | -0.528 | Destabilizing | 0.716 | D | 0.409 | neutral | None | None | None | None | N |
| L/F | 0.0844 | likely_benign | 0.0865 | benign | -0.748 | Destabilizing | 0.001 | N | 0.128 | neutral | None | None | None | None | N |
| L/G | 0.3125 | likely_benign | 0.323 | benign | -1.382 | Destabilizing | 0.418 | N | 0.409 | neutral | None | None | None | None | N |
| L/H | 0.1608 | likely_benign | 0.1632 | benign | -0.556 | Destabilizing | 0.983 | D | 0.334 | neutral | None | None | None | None | N |
| L/I | 0.0884 | likely_benign | 0.0913 | benign | -0.464 | Destabilizing | 0.049 | N | 0.333 | neutral | None | None | None | None | N |
| L/K | 0.1714 | likely_benign | 0.1684 | benign | -0.815 | Destabilizing | 0.418 | N | 0.391 | neutral | None | None | None | None | N |
| L/M | 0.0778 | likely_benign | 0.081 | benign | -0.537 | Destabilizing | 0.007 | N | 0.199 | neutral | N | 0.455957769 | None | None | N |
| L/N | 0.2135 | likely_benign | 0.2245 | benign | -0.687 | Destabilizing | 0.716 | D | 0.378 | neutral | None | None | None | None | N |
| L/P | 0.142 | likely_benign | 0.1368 | benign | -0.647 | Destabilizing | 0.004 | N | 0.303 | neutral | N | 0.356007937 | None | None | N |
| L/Q | 0.1101 | likely_benign | 0.1118 | benign | -0.81 | Destabilizing | 0.794 | D | 0.359 | neutral | N | 0.458149466 | None | None | N |
| L/R | 0.1562 | likely_benign | 0.1539 | benign | -0.291 | Destabilizing | 0.655 | D | 0.368 | neutral | N | 0.456845499 | None | None | N |
| L/S | 0.1383 | likely_benign | 0.1458 | benign | -1.23 | Destabilizing | 0.264 | N | 0.377 | neutral | None | None | None | None | N |
| L/T | 0.14 | likely_benign | 0.1471 | benign | -1.12 | Destabilizing | 0.01 | N | 0.198 | neutral | None | None | None | None | N |
| L/V | 0.0825 | likely_benign | 0.0833 | benign | -0.647 | Destabilizing | 0.002 | N | 0.136 | neutral | N | 0.461893004 | None | None | N |
| L/W | 0.1903 | likely_benign | 0.1809 | benign | -0.807 | Destabilizing | 0.983 | D | 0.334 | neutral | None | None | None | None | N |
| L/Y | 0.2146 | likely_benign | 0.2174 | benign | -0.579 | Destabilizing | 0.557 | D | 0.421 | 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.