Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5767 | 17524;17525;17526 | chr2:178731467;178731466;178731465 | chr2:179596194;179596193;179596192 |
| N2AB | 5450 | 16573;16574;16575 | chr2:178731467;178731466;178731465 | chr2:179596194;179596193;179596192 |
| N2A | 4523 | 13792;13793;13794 | chr2:178731467;178731466;178731465 | chr2:179596194;179596193;179596192 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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/G | rs1204382084  |
0.011 | 0.005 | N | 0.167 | 0.084 | 0.0482279557977 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| S/G | rs1204382084 |
0.011 | 0.005 | N | 0.167 | 0.084 | 0.0482279557977 | 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 |
| S/G | rs1204382084 |
0.011 | 0.005 | N | 0.167 | 0.084 | 0.0482279557977 | gnomAD-4.0.0 | 6.57099E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.46994E-05 | 0 | 0 |
| S/N | rs200692495 |
-0.038 | None | N | 0.089 | 0.049 | None | gnomAD-2.1.1 | 3.99977E-04 | None | None | None | None | N | None | 4.38125E-03 | 1.69952E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/N | rs200692495 |
-0.038 | None | N | 0.089 | 0.049 | None | gnomAD-3.1.2 | 9.92481E-04 | None | None | None | None | N | None | 3.52453E-03 | 2.61849E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.78011E-04 |
| S/N | rs200692495 |
-0.038 | None | N | 0.089 | 0.049 | None | 1000 genomes | 1.39776E-03 | None | None | None | None | N | None | 3.8E-03 | 2.9E-03 | None | None | 0 | 0 | None | None | None | 0 | None |
| S/N | rs200692495 |
-0.038 | None | N | 0.089 | 0.049 | None | gnomAD-4.0.0 | 1.67933E-04 | None | None | None | None | N | None | 3.23983E-03 | 1.5003E-04 | None | 0 | 0 | None | 0 | 0 | 4.2381E-06 | 0 | 2.241E-04 |
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 | 0.097 | likely_benign | 0.0958 | benign | -0.132 | Destabilizing | 0.014 | N | 0.17 | neutral | None | None | None | None | N |
| S/C | 0.1206 | likely_benign | 0.1208 | benign | -0.305 | Destabilizing | 0.828 | D | 0.289 | neutral | N | 0.489571686 | None | None | N |
| S/D | 0.1227 | likely_benign | 0.1233 | benign | 0.1 | Stabilizing | None | N | 0.146 | neutral | None | None | None | None | N |
| S/E | 0.2555 | likely_benign | 0.2498 | benign | -0.006 | Destabilizing | 0.007 | N | 0.166 | neutral | None | None | None | None | N |
| S/F | 0.277 | likely_benign | 0.2846 | benign | -0.875 | Destabilizing | 0.628 | D | 0.313 | neutral | None | None | None | None | N |
| S/G | 0.074 | likely_benign | 0.0691 | benign | -0.183 | Destabilizing | 0.005 | N | 0.167 | neutral | N | 0.35345696 | None | None | N |
| S/H | 0.1353 | likely_benign | 0.148 | benign | -0.532 | Destabilizing | 0.214 | N | 0.301 | neutral | None | None | None | None | N |
| S/I | 0.1463 | likely_benign | 0.1591 | benign | -0.131 | Destabilizing | 0.295 | N | 0.391 | neutral | N | 0.489745044 | None | None | N |
| S/K | 0.239 | likely_benign | 0.2422 | benign | -0.323 | Destabilizing | None | N | 0.091 | neutral | None | None | None | None | N |
| S/L | 0.1518 | likely_benign | 0.1547 | benign | -0.131 | Destabilizing | 0.072 | N | 0.263 | neutral | None | None | None | None | N |
| S/M | 0.1857 | likely_benign | 0.1997 | benign | -0.095 | Destabilizing | 0.628 | D | 0.295 | neutral | None | None | None | None | N |
| S/N | 0.0516 | likely_benign | 0.053 | benign | -0.071 | Destabilizing | None | N | 0.089 | neutral | N | 0.383076152 | None | None | N |
| S/P | 0.4122 | ambiguous | 0.4185 | ambiguous | -0.106 | Destabilizing | 0.136 | N | 0.344 | neutral | None | None | None | None | N |
| S/Q | 0.2377 | likely_benign | 0.2438 | benign | -0.293 | Destabilizing | 0.072 | N | 0.153 | neutral | None | None | None | None | N |
| S/R | 0.2359 | likely_benign | 0.2242 | benign | -0.086 | Destabilizing | 0.002 | N | 0.231 | neutral | N | 0.45934478 | None | None | N |
| S/T | 0.0815 | likely_benign | 0.0828 | benign | -0.182 | Destabilizing | 0.012 | N | 0.181 | neutral | N | 0.432947612 | None | None | N |
| S/V | 0.1682 | likely_benign | 0.1817 | benign | -0.106 | Destabilizing | 0.136 | N | 0.321 | neutral | None | None | None | None | N |
| S/W | 0.3661 | ambiguous | 0.3633 | ambiguous | -0.963 | Destabilizing | 0.864 | D | 0.355 | neutral | None | None | None | None | N |
| S/Y | 0.1505 | likely_benign | 0.1574 | benign | -0.636 | Destabilizing | 0.628 | D | 0.329 | 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.