Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28583 | 85972;85973;85974 | chr2:178560385;178560384;178560383 | chr2:179425112;179425111;179425110 |
| N2AB | 26942 | 81049;81050;81051 | chr2:178560385;178560384;178560383 | chr2:179425112;179425111;179425110 |
| N2A | 26015 | 78268;78269;78270 | chr2:178560385;178560384;178560383 | chr2:179425112;179425111;179425110 |
| N2B | 19518 | 58777;58778;58779 | chr2:178560385;178560384;178560383 | chr2:179425112;179425111;179425110 |
| Novex-1 | 19643 | 59152;59153;59154 | chr2:178560385;178560384;178560383 | chr2:179425112;179425111;179425110 |
| Novex-2 | 19710 | 59353;59354;59355 | chr2:178560385;178560384;178560383 | chr2:179425112;179425111;179425110 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/C | None | None | 0.997 | N | 0.678 | 0.365 | 0.414930877219 | gnomAD-4.0.0 | 6.84253E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99478E-07 | 0 | 0 |
| S/F | rs1553562507  |
None | 0.97 | N | 0.739 | 0.365 | 0.578198000816 | gnomAD-4.0.0 | 1.36851E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79896E-06 | 0 | 0 |
| S/P | rs763032657 |
-0.106 | 0.97 | N | 0.643 | 0.437 | 0.287603790349 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 6.54E-05 | None | 0 | 0 | 0 |
| S/P | rs763032657 |
-0.106 | 0.97 | N | 0.643 | 0.437 | 0.287603790349 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/P | rs763032657 |
-0.106 | 0.97 | N | 0.643 | 0.437 | 0.287603790349 | gnomAD-4.0.0 | 6.81736E-06 | None | None | None | None | I | None | 0 | 1.66739E-05 | None | 0 | 0 | None | 0 | 0 | 3.39047E-06 | 6.58848E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0707 | likely_benign | 0.0733 | benign | -0.55 | Destabilizing | 0.014 | N | 0.182 | neutral | N | 0.496335448 | None | None | I |
| S/C | 0.0949 | likely_benign | 0.0942 | benign | -0.368 | Destabilizing | 0.997 | D | 0.678 | prob.neutral | N | 0.471332786 | None | None | I |
| S/D | 0.3498 | ambiguous | 0.3587 | ambiguous | 0.324 | Stabilizing | 0.86 | D | 0.519 | neutral | None | None | None | None | I |
| S/E | 0.3922 | ambiguous | 0.4275 | ambiguous | 0.296 | Stabilizing | 0.86 | D | 0.527 | neutral | None | None | None | None | I |
| S/F | 0.1451 | likely_benign | 0.1532 | benign | -0.834 | Destabilizing | 0.97 | D | 0.739 | prob.delet. | N | 0.479219598 | None | None | I |
| S/G | 0.091 | likely_benign | 0.0963 | benign | -0.759 | Destabilizing | 0.754 | D | 0.543 | neutral | None | None | None | None | I |
| S/H | 0.256 | likely_benign | 0.2683 | benign | -1.137 | Destabilizing | 0.998 | D | 0.675 | neutral | None | None | None | None | I |
| S/I | 0.1118 | likely_benign | 0.1194 | benign | -0.115 | Destabilizing | 0.956 | D | 0.695 | prob.neutral | None | None | None | None | I |
| S/K | 0.4198 | ambiguous | 0.4458 | ambiguous | -0.491 | Destabilizing | 0.86 | D | 0.537 | neutral | None | None | None | None | I |
| S/L | 0.0699 | likely_benign | 0.0724 | benign | -0.115 | Destabilizing | 0.754 | D | 0.605 | neutral | None | None | None | None | I |
| S/M | 0.1489 | likely_benign | 0.1596 | benign | -0.023 | Destabilizing | 0.998 | D | 0.679 | prob.neutral | None | None | None | None | I |
| S/N | 0.1248 | likely_benign | 0.1271 | benign | -0.32 | Destabilizing | 0.86 | D | 0.555 | neutral | None | None | None | None | I |
| S/P | 0.4836 | ambiguous | 0.4656 | ambiguous | -0.227 | Destabilizing | 0.97 | D | 0.643 | neutral | N | 0.497830832 | None | None | I |
| S/Q | 0.3516 | ambiguous | 0.3799 | ambiguous | -0.447 | Destabilizing | 0.978 | D | 0.57 | neutral | None | None | None | None | I |
| S/R | 0.3647 | ambiguous | 0.3771 | ambiguous | -0.373 | Destabilizing | 0.956 | D | 0.665 | neutral | None | None | None | None | I |
| S/T | 0.0655 | likely_benign | 0.0687 | benign | -0.407 | Destabilizing | 0.006 | N | 0.154 | neutral | N | 0.387260969 | None | None | I |
| S/V | 0.1306 | likely_benign | 0.1395 | benign | -0.227 | Destabilizing | 0.754 | D | 0.607 | neutral | None | None | None | None | I |
| S/W | 0.2544 | likely_benign | 0.2627 | benign | -0.824 | Destabilizing | 0.998 | D | 0.82 | deleterious | None | None | None | None | I |
| S/Y | 0.1406 | likely_benign | 0.1525 | benign | -0.553 | Destabilizing | 0.99 | D | 0.745 | deleterious | N | 0.479473087 | None | None | I |
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.