Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25690 | 77293;77294;77295 | chr2:178569064;178569063;178569062 | chr2:179433791;179433790;179433789 |
| N2AB | 24049 | 72370;72371;72372 | chr2:178569064;178569063;178569062 | chr2:179433791;179433790;179433789 |
| N2A | 23122 | 69589;69590;69591 | chr2:178569064;178569063;178569062 | chr2:179433791;179433790;179433789 |
| N2B | 16625 | 50098;50099;50100 | chr2:178569064;178569063;178569062 | chr2:179433791;179433790;179433789 |
| Novex-1 | 16750 | 50473;50474;50475 | chr2:178569064;178569063;178569062 | chr2:179433791;179433790;179433789 |
| Novex-2 | 16817 | 50674;50675;50676 | chr2:178569064;178569063;178569062 | chr2:179433791;179433790;179433789 |
| 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/G | rs1344792922  |
-0.021 | None | N | 0.217 | 0.077 | 0.144782658237 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| A/G | rs1344792922 |
-0.021 | None | N | 0.217 | 0.077 | 0.144782658237 | gnomAD-4.0.0 | 1.36883E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.32024E-05 | 0 |
| A/T | rs758341420 |
-0.113 | None | N | 0.048 | 0.043 | 0.0666544352282 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| A/T | rs758341420 |
-0.113 | None | N | 0.048 | 0.043 | 0.0666544352282 | gnomAD-4.0.0 | 9.58187E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.25951E-05 | 0 | 0 |
| A/V | None | None | None | N | 0.103 | 0.058 | 0.207176502487 | gnomAD-4.0.0 | 1.36883E-06 | None | None | None | None | I | None | 2.99043E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99643E-07 | 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 | 0.2711 | likely_benign | 0.3026 | benign | -0.649 | Destabilizing | 0.163 | N | 0.338 | neutral | None | None | None | None | I |
| A/D | 0.1397 | likely_benign | 0.1412 | benign | -0.544 | Destabilizing | None | N | 0.457 | neutral | N | 0.486905101 | None | None | I |
| A/E | 0.1316 | likely_benign | 0.1434 | benign | -0.67 | Destabilizing | 0.005 | N | 0.409 | neutral | None | None | None | None | I |
| A/F | 0.1962 | likely_benign | 0.2309 | benign | -0.809 | Destabilizing | 0.162 | N | 0.665 | prob.neutral | None | None | None | None | I |
| A/G | 0.0983 | likely_benign | 0.1068 | benign | -0.338 | Destabilizing | None | N | 0.217 | neutral | N | 0.483864796 | None | None | I |
| A/H | 0.2513 | likely_benign | 0.2885 | benign | -0.327 | Destabilizing | 0.422 | N | 0.53 | neutral | None | None | None | None | I |
| A/I | 0.1015 | likely_benign | 0.107 | benign | -0.263 | Destabilizing | None | N | 0.27 | neutral | None | None | None | None | I |
| A/K | 0.1857 | likely_benign | 0.2182 | benign | -0.638 | Destabilizing | 0.027 | N | 0.405 | neutral | None | None | None | None | I |
| A/L | 0.0872 | likely_benign | 0.0917 | benign | -0.263 | Destabilizing | 0.006 | N | 0.353 | neutral | None | None | None | None | I |
| A/M | 0.1114 | likely_benign | 0.1173 | benign | -0.474 | Destabilizing | 0.162 | N | 0.382 | neutral | None | None | None | None | I |
| A/N | 0.1158 | likely_benign | 0.1242 | benign | -0.292 | Destabilizing | None | N | 0.631 | neutral | None | None | None | None | I |
| A/P | 0.0838 | likely_benign | 0.0922 | benign | -0.232 | Destabilizing | None | N | 0.269 | neutral | N | 0.459430498 | None | None | I |
| A/Q | 0.1689 | likely_benign | 0.1928 | benign | -0.529 | Destabilizing | 0.087 | N | 0.476 | neutral | None | None | None | None | I |
| A/R | 0.2086 | likely_benign | 0.2436 | benign | -0.205 | Destabilizing | 0.087 | N | 0.492 | neutral | None | None | None | None | I |
| A/S | 0.0745 | likely_benign | 0.0769 | benign | -0.472 | Destabilizing | None | N | 0.115 | neutral | N | 0.387586256 | None | None | I |
| A/T | 0.0637 | likely_benign | 0.064 | benign | -0.518 | Destabilizing | None | N | 0.048 | neutral | N | 0.401131556 | None | None | I |
| A/V | 0.0696 | likely_benign | 0.0728 | benign | -0.232 | Destabilizing | None | N | 0.103 | neutral | N | 0.437145497 | None | None | I |
| A/W | 0.4804 | ambiguous | 0.5428 | ambiguous | -0.982 | Destabilizing | 0.69 | D | 0.593 | neutral | None | None | None | None | I |
| A/Y | 0.2724 | likely_benign | 0.3226 | benign | -0.627 | Destabilizing | 0.162 | N | 0.631 | neutral | None | None | 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.