Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27774 | 83545;83546;83547 | chr2:178562812;178562811;178562810 | chr2:179427539;179427538;179427537 |
| N2AB | 26133 | 78622;78623;78624 | chr2:178562812;178562811;178562810 | chr2:179427539;179427538;179427537 |
| N2A | 25206 | 75841;75842;75843 | chr2:178562812;178562811;178562810 | chr2:179427539;179427538;179427537 |
| N2B | 18709 | 56350;56351;56352 | chr2:178562812;178562811;178562810 | chr2:179427539;179427538;179427537 |
| Novex-1 | 18834 | 56725;56726;56727 | chr2:178562812;178562811;178562810 | chr2:179427539;179427538;179427537 |
| Novex-2 | 18901 | 56926;56927;56928 | chr2:178562812;178562811;178562810 | chr2:179427539;179427538;179427537 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/I | rs1704174371  |
None | 0.029 | N | 0.497 | 0.092 | 0.29132392195 | gnomAD-4.0.0 | 6.84552E-07 | None | None | None | None | N | None | 0 | 2.24034E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/N | None | None | None | N | 0.257 | 0.085 | 0.270001397563 | gnomAD-4.0.0 | 1.3691E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79938E-06 | 0 | 0 |
| T/S | None | None | 0.001 | N | 0.178 | 0.116 | 0.167679373172 | gnomAD-4.0.0 | 6.84552E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.9969E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.067 | likely_benign | 0.0655 | benign | -0.719 | Destabilizing | 0.012 | N | 0.313 | neutral | N | 0.49143106 | None | None | N |
| T/C | 0.2004 | likely_benign | 0.1975 | benign | -0.438 | Destabilizing | 0.864 | D | 0.506 | neutral | None | None | None | None | N |
| T/D | 0.2736 | likely_benign | 0.2744 | benign | 0.32 | Stabilizing | 0.016 | N | 0.403 | neutral | None | None | None | None | N |
| T/E | 0.215 | likely_benign | 0.2195 | benign | 0.311 | Stabilizing | None | N | 0.259 | neutral | None | None | None | None | N |
| T/F | 0.1461 | likely_benign | 0.1459 | benign | -0.931 | Destabilizing | 0.356 | N | 0.531 | neutral | None | None | None | None | N |
| T/G | 0.1574 | likely_benign | 0.1512 | benign | -0.947 | Destabilizing | 0.016 | N | 0.409 | neutral | None | None | None | None | N |
| T/H | 0.1448 | likely_benign | 0.1414 | benign | -1.226 | Destabilizing | 0.214 | N | 0.529 | neutral | None | None | None | None | N |
| T/I | 0.0858 | likely_benign | 0.0846 | benign | -0.214 | Destabilizing | 0.029 | N | 0.497 | neutral | N | 0.521580609 | None | None | N |
| T/K | 0.1353 | likely_benign | 0.1343 | benign | -0.472 | Destabilizing | None | N | 0.253 | neutral | None | None | None | None | N |
| T/L | 0.0729 | likely_benign | 0.0723 | benign | -0.214 | Destabilizing | 0.016 | N | 0.405 | neutral | None | None | None | None | N |
| T/M | 0.0785 | likely_benign | 0.0778 | benign | -0.023 | Destabilizing | 0.356 | N | 0.532 | neutral | None | None | None | None | N |
| T/N | 0.083 | likely_benign | 0.0793 | benign | -0.411 | Destabilizing | None | N | 0.257 | neutral | N | 0.521060534 | None | None | N |
| T/P | 0.3854 | ambiguous | 0.4161 | ambiguous | -0.35 | Destabilizing | 0.106 | N | 0.554 | neutral | N | 0.497959417 | None | None | N |
| T/Q | 0.1371 | likely_benign | 0.1346 | benign | -0.534 | Destabilizing | 0.072 | N | 0.543 | neutral | None | None | None | None | N |
| T/R | 0.1232 | likely_benign | 0.1234 | benign | -0.317 | Destabilizing | 0.038 | N | 0.455 | neutral | None | None | None | None | N |
| T/S | 0.0843 | likely_benign | 0.081 | benign | -0.739 | Destabilizing | 0.001 | N | 0.178 | neutral | N | 0.475901461 | None | None | N |
| T/V | 0.078 | likely_benign | 0.0755 | benign | -0.35 | Destabilizing | 0.001 | N | 0.236 | neutral | None | None | None | None | N |
| T/W | 0.4507 | ambiguous | 0.4601 | ambiguous | -0.87 | Destabilizing | 0.864 | D | 0.553 | neutral | None | None | None | None | N |
| T/Y | 0.1825 | likely_benign | 0.1825 | benign | -0.614 | Destabilizing | 0.628 | D | 0.531 | 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.