Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25664 | 77215;77216;77217 | chr2:178569142;178569141;178569140 | chr2:179433869;179433868;179433867 |
| N2AB | 24023 | 72292;72293;72294 | chr2:178569142;178569141;178569140 | chr2:179433869;179433868;179433867 |
| N2A | 23096 | 69511;69512;69513 | chr2:178569142;178569141;178569140 | chr2:179433869;179433868;179433867 |
| N2B | 16599 | 50020;50021;50022 | chr2:178569142;178569141;178569140 | chr2:179433869;179433868;179433867 |
| Novex-1 | 16724 | 50395;50396;50397 | chr2:178569142;178569141;178569140 | chr2:179433869;179433868;179433867 |
| Novex-2 | 16791 | 50596;50597;50598 | chr2:178569142;178569141;178569140 | chr2:179433869;179433868;179433867 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/R | rs750836294  |
0.519 | 0.004 | N | 0.345 | 0.127 | 0.0806252709748 | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 4.65E-05 | 2.67E-05 | 0 |
| Q/R | rs750836294 |
0.519 | 0.004 | N | 0.345 | 0.127 | 0.0806252709748 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| Q/R | rs750836294 |
0.519 | 0.004 | N | 0.345 | 0.127 | 0.0806252709748 | gnomAD-4.0.0 | 4.33896E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.12402E-05 | 0 | 4.23895E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.1436 | likely_benign | 0.1511 | benign | -0.107 | Destabilizing | 0.004 | N | 0.299 | neutral | None | None | None | None | N |
| Q/C | 0.4533 | ambiguous | 0.5558 | ambiguous | 0.057 | Stabilizing | 0.492 | N | 0.391 | neutral | None | None | None | None | N |
| Q/D | 0.1882 | likely_benign | 0.2186 | benign | -0.049 | Destabilizing | 0.002 | N | 0.279 | neutral | None | None | None | None | N |
| Q/E | 0.0831 | likely_benign | 0.0795 | benign | -0.099 | Destabilizing | None | N | 0.131 | neutral | N | 0.407518811 | None | None | N |
| Q/F | 0.5246 | ambiguous | 0.6456 | pathogenic | -0.451 | Destabilizing | 0.072 | N | 0.421 | neutral | None | None | None | None | N |
| Q/G | 0.1405 | likely_benign | 0.1606 | benign | -0.238 | Destabilizing | 0.016 | N | 0.301 | neutral | None | None | None | None | N |
| Q/H | 0.1305 | likely_benign | 0.1594 | benign | -0.031 | Destabilizing | 0.078 | N | 0.369 | neutral | N | 0.45130966 | None | None | N |
| Q/I | 0.3376 | likely_benign | 0.3859 | ambiguous | 0.141 | Stabilizing | 0.008 | N | 0.468 | neutral | None | None | None | None | N |
| Q/K | 0.0923 | likely_benign | 0.1045 | benign | 0.086 | Stabilizing | 0.002 | N | 0.315 | neutral | N | 0.381660361 | None | None | N |
| Q/L | 0.1182 | likely_benign | 0.1459 | benign | 0.141 | Stabilizing | None | N | 0.213 | neutral | N | 0.489443974 | None | None | N |
| Q/M | 0.2783 | likely_benign | 0.3239 | benign | 0.211 | Stabilizing | 0.052 | N | 0.371 | neutral | None | None | None | None | N |
| Q/N | 0.1322 | likely_benign | 0.1609 | benign | -0.165 | Destabilizing | 0.012 | N | 0.329 | neutral | None | None | None | None | N |
| Q/P | 0.1464 | likely_benign | 0.157 | benign | 0.083 | Stabilizing | None | N | 0.161 | neutral | N | 0.417813162 | None | None | N |
| Q/R | 0.1002 | likely_benign | 0.1207 | benign | 0.297 | Stabilizing | 0.004 | N | 0.345 | neutral | N | 0.401670274 | None | None | N |
| Q/S | 0.1368 | likely_benign | 0.1515 | benign | -0.162 | Destabilizing | 0.001 | N | 0.141 | neutral | None | None | None | None | N |
| Q/T | 0.1409 | likely_benign | 0.1565 | benign | -0.079 | Destabilizing | None | N | 0.308 | neutral | None | None | None | None | N |
| Q/V | 0.2247 | likely_benign | 0.2461 | benign | 0.083 | Stabilizing | 0.001 | N | 0.343 | neutral | None | None | None | None | N |
| Q/W | 0.5242 | ambiguous | 0.6503 | pathogenic | -0.492 | Destabilizing | 0.828 | D | 0.377 | neutral | None | None | None | None | N |
| Q/Y | 0.3079 | likely_benign | 0.4126 | ambiguous | -0.208 | Destabilizing | 0.135 | N | 0.407 | 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.