Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5928 | 18007;18008;18009 | chr2:178730751;178730750;178730749 | chr2:179595478;179595477;179595476 |
| N2AB | 5611 | 17056;17057;17058 | chr2:178730751;178730750;178730749 | chr2:179595478;179595477;179595476 |
| N2A | 4684 | 14275;14276;14277 | chr2:178730751;178730750;178730749 | chr2:179595478;179595477;179595476 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/I | rs752412937  |
-0.202 | 0.679 | N | 0.215 | 0.21 | 0.429552544315 | gnomAD-2.1.1 | 8.17E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.59E-05 | None | 0 | None | 0 | 9.08E-06 | 0 |
| M/I | rs752412937 |
-0.202 | 0.679 | N | 0.215 | 0.21 | 0.429552544315 | gnomAD-4.0.0 | 1.60558E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.89024E-06 | 0 | 0 |
| M/K | rs1337129774 |
0.37 | 0.837 | N | 0.253 | 0.368 | 0.629843413301 | gnomAD-2.1.1 | 4.08E-06 | None | None | None | None | N | None | 0 | 2.92E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| M/K | rs1337129774 |
0.37 | 0.837 | N | 0.253 | 0.368 | 0.629843413301 | gnomAD-4.0.0 | 1.60533E-06 | None | None | None | None | N | None | 0 | 2.30203E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/A | 0.4452 | ambiguous | 0.4983 | ambiguous | -1.38 | Destabilizing | 0.55 | D | 0.215 | neutral | None | None | None | None | N |
| M/C | 0.8677 | likely_pathogenic | 0.8878 | pathogenic | -1.156 | Destabilizing | 0.993 | D | 0.298 | neutral | None | None | None | None | N |
| M/D | 0.8824 | likely_pathogenic | 0.9192 | pathogenic | -0.026 | Destabilizing | 0.932 | D | 0.373 | neutral | None | None | None | None | N |
| M/E | 0.5833 | likely_pathogenic | 0.6589 | pathogenic | 0.012 | Stabilizing | 0.932 | D | 0.312 | neutral | None | None | None | None | N |
| M/F | 0.4227 | ambiguous | 0.4716 | ambiguous | -0.401 | Destabilizing | 0.977 | D | 0.253 | neutral | None | None | None | None | N |
| M/G | 0.7414 | likely_pathogenic | 0.7822 | pathogenic | -1.701 | Destabilizing | 0.932 | D | 0.321 | neutral | None | None | None | None | N |
| M/H | 0.6063 | likely_pathogenic | 0.6769 | pathogenic | -0.717 | Destabilizing | 0.993 | D | 0.312 | neutral | None | None | None | None | N |
| M/I | 0.4018 | ambiguous | 0.4848 | ambiguous | -0.563 | Destabilizing | 0.679 | D | 0.215 | neutral | N | 0.429833602 | None | None | N |
| M/K | 0.2294 | likely_benign | 0.2954 | benign | -0.243 | Destabilizing | 0.837 | D | 0.253 | neutral | N | 0.470701577 | None | None | N |
| M/L | 0.1841 | likely_benign | 0.2142 | benign | -0.563 | Destabilizing | 0.285 | N | 0.184 | neutral | N | 0.449515441 | None | None | N |
| M/N | 0.5754 | likely_pathogenic | 0.6502 | pathogenic | -0.176 | Destabilizing | 0.932 | D | 0.331 | neutral | None | None | None | None | N |
| M/P | 0.9508 | likely_pathogenic | 0.9638 | pathogenic | -0.807 | Destabilizing | 0.977 | D | 0.386 | neutral | None | None | None | None | N |
| M/Q | 0.2743 | likely_benign | 0.3216 | benign | -0.204 | Destabilizing | 0.977 | D | 0.253 | neutral | None | None | None | None | N |
| M/R | 0.2569 | likely_benign | 0.329 | benign | 0.169 | Stabilizing | 0.912 | D | 0.363 | neutral | N | 0.456598916 | None | None | N |
| M/S | 0.5018 | ambiguous | 0.574 | pathogenic | -0.825 | Destabilizing | 0.584 | D | 0.249 | neutral | None | None | None | None | N |
| M/T | 0.2093 | likely_benign | 0.253 | benign | -0.66 | Destabilizing | 0.01 | N | 0.128 | neutral | N | 0.397550612 | None | None | N |
| M/V | 0.126 | likely_benign | 0.151 | benign | -0.807 | Destabilizing | 0.48 | N | 0.205 | neutral | N | 0.395755527 | None | None | N |
| M/W | 0.6899 | likely_pathogenic | 0.7296 | pathogenic | -0.346 | Destabilizing | 0.998 | D | 0.294 | neutral | None | None | None | None | N |
| M/Y | 0.6548 | likely_pathogenic | 0.7019 | pathogenic | -0.332 | Destabilizing | 0.993 | D | 0.361 | 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.