Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17530 | 52813;52814;52815 | chr2:178608295;178608294;178608293 | chr2:179473022;179473021;179473020 |
| N2AB | 15889 | 47890;47891;47892 | chr2:178608295;178608294;178608293 | chr2:179473022;179473021;179473020 |
| N2A | 14962 | 45109;45110;45111 | chr2:178608295;178608294;178608293 | chr2:179473022;179473021;179473020 |
| N2B | 8465 | 25618;25619;25620 | chr2:178608295;178608294;178608293 | chr2:179473022;179473021;179473020 |
| Novex-1 | 8590 | 25993;25994;25995 | chr2:178608295;178608294;178608293 | chr2:179473022;179473021;179473020 |
| Novex-2 | 8657 | 26194;26195;26196 | chr2:178608295;178608294;178608293 | chr2:179473022;179473021;179473020 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/K | rs777245474  |
0.098 | None | N | 0.218 | 0.082 | 0.0297737177859 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.96E-06 | 0 |
| N/K | rs777245474 |
0.098 | None | N | 0.218 | 0.082 | 0.0297737177859 | gnomAD-4.0.0 | 6.84862E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99944E-07 | 0 | 0 |
| N/S | rs762214300 |
-0.373 | 0.027 | N | 0.485 | 0.096 | 0.167679373172 | gnomAD-2.1.1 | 7.91E-05 | None | None | None | None | N | None | 0 | 5.69E-05 | None | 0 | 0 | None | 0 | None | 1.60552E-04 | 1.25861E-04 | 0 |
| N/S | rs762214300 |
-0.373 | 0.027 | N | 0.485 | 0.096 | 0.167679373172 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 5.89E-05 | 0 | 0 |
| N/S | rs762214300 |
-0.373 | 0.027 | N | 0.485 | 0.096 | 0.167679373172 | gnomAD-4.0.0 | 4.34203E-05 | None | None | None | None | N | None | 0 | 5.01052E-05 | None | 0 | 0 | None | 1.56426E-04 | 0 | 4.66457E-05 | 0 | 3.20677E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.1239 | likely_benign | 0.1357 | benign | -0.498 | Destabilizing | 0.035 | N | 0.513 | neutral | None | None | None | None | N |
| N/C | 0.1729 | likely_benign | 0.1859 | benign | 0.336 | Stabilizing | 0.935 | D | 0.642 | neutral | None | None | None | None | N |
| N/D | 0.11 | likely_benign | 0.1309 | benign | 0.001 | Stabilizing | 0.117 | N | 0.467 | neutral | N | 0.483694224 | None | None | N |
| N/E | 0.1626 | likely_benign | 0.1927 | benign | -0.023 | Destabilizing | 0.035 | N | 0.465 | neutral | None | None | None | None | N |
| N/F | 0.3792 | ambiguous | 0.4142 | ambiguous | -0.823 | Destabilizing | 0.791 | D | 0.611 | neutral | None | None | None | None | N |
| N/G | 0.2008 | likely_benign | 0.2051 | benign | -0.691 | Destabilizing | 0.067 | N | 0.461 | neutral | None | None | None | None | N |
| N/H | 0.0646 | likely_benign | 0.0701 | benign | -0.718 | Destabilizing | 0.484 | N | 0.517 | neutral | N | 0.507301803 | None | None | N |
| N/I | 0.1331 | likely_benign | 0.1459 | benign | -0.07 | Destabilizing | 0.484 | N | 0.629 | neutral | N | 0.479307125 | None | None | N |
| N/K | 0.0803 | likely_benign | 0.0947 | benign | 0.103 | Stabilizing | None | N | 0.218 | neutral | N | 0.38953327 | None | None | N |
| N/L | 0.1672 | likely_benign | 0.1681 | benign | -0.07 | Destabilizing | 0.149 | N | 0.542 | neutral | None | None | None | None | N |
| N/M | 0.2285 | likely_benign | 0.2266 | benign | 0.429 | Stabilizing | 0.935 | D | 0.604 | neutral | None | None | None | None | N |
| N/P | 0.2409 | likely_benign | 0.2746 | benign | -0.186 | Destabilizing | 0.555 | D | 0.629 | neutral | None | None | None | None | N |
| N/Q | 0.1392 | likely_benign | 0.1557 | benign | -0.461 | Destabilizing | 0.081 | N | 0.477 | neutral | None | None | None | None | N |
| N/R | 0.0928 | likely_benign | 0.1091 | benign | 0.174 | Stabilizing | None | N | 0.221 | neutral | None | None | None | None | N |
| N/S | 0.0701 | likely_benign | 0.0709 | benign | -0.226 | Destabilizing | 0.027 | N | 0.485 | neutral | N | 0.445271909 | None | None | N |
| N/T | 0.0757 | likely_benign | 0.0789 | benign | -0.095 | Destabilizing | 0.117 | N | 0.455 | neutral | N | 0.381793647 | None | None | N |
| N/V | 0.1134 | likely_benign | 0.1235 | benign | -0.186 | Destabilizing | 0.38 | N | 0.613 | neutral | None | None | None | None | N |
| N/W | 0.5455 | ambiguous | 0.5799 | pathogenic | -0.741 | Destabilizing | 0.935 | D | 0.662 | neutral | None | None | None | None | N |
| N/Y | 0.1093 | likely_benign | 0.1256 | benign | -0.491 | Destabilizing | 0.484 | N | 0.621 | neutral | N | 0.521828538 | 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.