Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22008 | 66247;66248;66249 | chr2:178582434;178582433;178582432 | chr2:179447161;179447160;179447159 |
| N2AB | 20367 | 61324;61325;61326 | chr2:178582434;178582433;178582432 | chr2:179447161;179447160;179447159 |
| N2A | 19440 | 58543;58544;58545 | chr2:178582434;178582433;178582432 | chr2:179447161;179447160;179447159 |
| N2B | 12943 | 39052;39053;39054 | chr2:178582434;178582433;178582432 | chr2:179447161;179447160;179447159 |
| Novex-1 | 13068 | 39427;39428;39429 | chr2:178582434;178582433;178582432 | chr2:179447161;179447160;179447159 |
| Novex-2 | 13135 | 39628;39629;39630 | chr2:178582434;178582433;178582432 | chr2:179447161;179447160;179447159 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/E | rs751787608  |
-0.677 | 0.331 | N | 0.505 | 0.307 | 0.342400092842 | gnomAD-2.1.1 | 8.07E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 6.54E-05 | None | 0 | 0 | 0 |
| A/E | rs751787608 |
-0.677 | 0.331 | N | 0.505 | 0.307 | 0.342400092842 | gnomAD-4.0.0 | 1.36911E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.3197E-05 | 0 |
| A/V | rs751787608 |
-0.131 | 0.22 | N | 0.488 | 0.272 | 0.299086750705 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| A/V | rs751787608 |
-0.131 | 0.22 | N | 0.488 | 0.272 | 0.299086750705 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| A/V | rs751787608 |
-0.131 | 0.22 | N | 0.488 | 0.272 | 0.299086750705 | gnomAD-4.0.0 | 1.17804E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.611E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.5611 | ambiguous | 0.5565 | ambiguous | -0.907 | Destabilizing | 0.909 | D | 0.516 | neutral | None | None | None | None | N |
| A/D | 0.5574 | ambiguous | 0.6282 | pathogenic | -0.963 | Destabilizing | 0.396 | N | 0.532 | neutral | None | None | None | None | N |
| A/E | 0.5212 | ambiguous | 0.5746 | pathogenic | -1.09 | Destabilizing | 0.331 | N | 0.505 | neutral | N | 0.401867849 | None | None | N |
| A/F | 0.5919 | likely_pathogenic | 0.6199 | pathogenic | -1.139 | Destabilizing | 0.003 | N | 0.455 | neutral | None | None | None | None | N |
| A/G | 0.1647 | likely_benign | 0.1659 | benign | -0.783 | Destabilizing | 0.124 | N | 0.496 | neutral | N | 0.462262947 | None | None | N |
| A/H | 0.6748 | likely_pathogenic | 0.7061 | pathogenic | -0.797 | Destabilizing | 0.909 | D | 0.594 | neutral | None | None | None | None | N |
| A/I | 0.4604 | ambiguous | 0.466 | ambiguous | -0.521 | Destabilizing | 0.567 | D | 0.526 | neutral | None | None | None | None | N |
| A/K | 0.6762 | likely_pathogenic | 0.7331 | pathogenic | -0.93 | Destabilizing | 0.396 | N | 0.493 | neutral | None | None | None | None | N |
| A/L | 0.3061 | likely_benign | 0.3125 | benign | -0.521 | Destabilizing | 0.157 | N | 0.487 | neutral | None | None | None | None | N |
| A/M | 0.3651 | ambiguous | 0.374 | ambiguous | -0.375 | Destabilizing | 0.968 | D | 0.541 | neutral | None | None | None | None | N |
| A/N | 0.3476 | ambiguous | 0.3653 | ambiguous | -0.62 | Destabilizing | 0.396 | N | 0.598 | neutral | None | None | None | None | N |
| A/P | 0.3107 | likely_benign | 0.3221 | benign | -0.531 | Destabilizing | 0.002 | N | 0.315 | neutral | N | 0.471863865 | None | None | N |
| A/Q | 0.4969 | ambiguous | 0.5283 | ambiguous | -0.937 | Destabilizing | 0.567 | D | 0.543 | neutral | None | None | None | None | N |
| A/R | 0.6452 | likely_pathogenic | 0.6976 | pathogenic | -0.422 | Destabilizing | 0.567 | D | 0.546 | neutral | None | None | None | None | N |
| A/S | 0.0929 | likely_benign | 0.0945 | benign | -0.873 | Destabilizing | 0.001 | N | 0.234 | neutral | N | 0.396019312 | None | None | N |
| A/T | 0.1195 | likely_benign | 0.1262 | benign | -0.923 | Destabilizing | 0.124 | N | 0.487 | neutral | N | 0.429438452 | None | None | N |
| A/V | 0.2219 | likely_benign | 0.2278 | benign | -0.531 | Destabilizing | 0.22 | N | 0.488 | neutral | N | 0.483382006 | None | None | N |
| A/W | 0.8983 | likely_pathogenic | 0.9126 | pathogenic | -1.288 | Destabilizing | 0.968 | D | 0.703 | prob.neutral | None | None | None | None | N |
| A/Y | 0.7036 | likely_pathogenic | 0.7254 | pathogenic | -0.94 | Destabilizing | 0.396 | N | 0.595 | 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.