Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8745 | 26458;26459;26460 | chr2:178714541;178714540;178714539 | chr2:179579268;179579267;179579266 |
| N2AB | 8428 | 25507;25508;25509 | chr2:178714541;178714540;178714539 | chr2:179579268;179579267;179579266 |
| N2A | 7501 | 22726;22727;22728 | chr2:178714541;178714540;178714539 | chr2:179579268;179579267;179579266 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/M | rs2077168515  |
None | None | N | 0.131 | 0.153 | 0.151104730317 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/M | rs2077168515 |
None | None | N | 0.131 | 0.153 | 0.151104730317 | gnomAD-4.0.0 | 6.5716E-06 | None | None | None | None | I | None | 2.41185E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/T | rs1176501015 |
0.164 | None | N | 0.201 | 0.154 | 0.45349784317 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | I | None | 0 | 2.91E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| I/T | rs1176501015 |
0.164 | None | N | 0.201 | 0.154 | 0.45349784317 | gnomAD-4.0.0 | 1.5968E-06 | None | None | None | None | I | None | 0 | 2.29137E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/V | rs901437058 |
None | None | N | 0.147 | 0.107 | 0.162503812791 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 1.92827E-04 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| I/V | rs901437058 |
None | None | N | 0.147 | 0.107 | 0.162503812791 | gnomAD-4.0.0 | 1.31328E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 1.93274E-04 | None | 0 | 0 | 1.47029E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.1149 | likely_benign | 0.1401 | benign | -1.128 | Destabilizing | None | N | 0.104 | neutral | None | None | None | None | I |
| I/C | 0.3636 | ambiguous | 0.4244 | ambiguous | -0.953 | Destabilizing | 0.33 | N | 0.279 | neutral | None | None | None | None | I |
| I/D | 0.2471 | likely_benign | 0.3071 | benign | -0.08 | Destabilizing | 0.123 | N | 0.467 | neutral | None | None | None | None | I |
| I/E | 0.2078 | likely_benign | 0.2461 | benign | -0.111 | Destabilizing | 0.049 | N | 0.463 | neutral | None | None | None | None | I |
| I/F | 0.0732 | likely_benign | 0.0793 | benign | -0.916 | Destabilizing | None | N | 0.141 | neutral | None | None | None | None | I |
| I/G | 0.2399 | likely_benign | 0.3265 | benign | -1.387 | Destabilizing | 0.033 | N | 0.344 | neutral | None | None | None | None | I |
| I/H | 0.1917 | likely_benign | 0.2244 | benign | -0.732 | Destabilizing | 0.383 | N | 0.317 | neutral | None | None | None | None | I |
| I/K | 0.1404 | likely_benign | 0.1658 | benign | -0.579 | Destabilizing | 0.002 | N | 0.41 | neutral | N | 0.485729744 | None | None | I |
| I/L | 0.0697 | likely_benign | 0.0728 | benign | -0.524 | Destabilizing | None | N | 0.081 | neutral | N | 0.414885579 | None | None | I |
| I/M | 0.0708 | likely_benign | 0.0747 | benign | -0.513 | Destabilizing | None | N | 0.131 | neutral | N | 0.451174453 | None | None | I |
| I/N | 0.1016 | likely_benign | 0.1153 | benign | -0.366 | Destabilizing | 0.33 | N | 0.427 | neutral | None | None | None | None | I |
| I/P | 0.6057 | likely_pathogenic | 0.7596 | pathogenic | -0.692 | Destabilizing | 0.33 | N | 0.433 | neutral | None | None | None | None | I |
| I/Q | 0.1622 | likely_benign | 0.1835 | benign | -0.524 | Destabilizing | 0.17 | N | 0.401 | neutral | None | None | None | None | I |
| I/R | 0.111 | likely_benign | 0.1343 | benign | -0.141 | Destabilizing | 0.068 | N | 0.434 | neutral | N | 0.471261724 | None | None | I |
| I/S | 0.0994 | likely_benign | 0.1165 | benign | -1.019 | Destabilizing | 0.014 | N | 0.256 | neutral | None | None | None | None | I |
| I/T | 0.08 | likely_benign | 0.0933 | benign | -0.924 | Destabilizing | None | N | 0.201 | neutral | N | 0.415445727 | None | None | I |
| I/V | 0.0601 | likely_benign | 0.0638 | benign | -0.692 | Destabilizing | None | N | 0.147 | neutral | N | 0.399374622 | None | None | I |
| I/W | 0.4737 | ambiguous | 0.5635 | ambiguous | -0.926 | Destabilizing | 0.734 | D | 0.317 | neutral | None | None | None | None | I |
| I/Y | 0.2334 | likely_benign | 0.254 | benign | -0.665 | Destabilizing | 0.002 | N | 0.396 | 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.