Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8652 | 26179;26180;26181 | chr2:178715232;178715231;178715230 | chr2:179579959;179579958;179579957 |
| N2AB | 8335 | 25228;25229;25230 | chr2:178715232;178715231;178715230 | chr2:179579959;179579958;179579957 |
| N2A | 7408 | 22447;22448;22449 | chr2:178715232;178715231;178715230 | chr2:179579959;179579958;179579957 |
| 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 | rs760452917  |
-0.43 | 0.001 | N | 0.107 | 0.139 | 0.0762999501168 | gnomAD-2.1.1 | 1.17649E-04 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 9.68474E-04 | None | 0 | 0 | 0 |
| I/M | rs760452917 |
-0.43 | 0.001 | N | 0.107 | 0.139 | 0.0762999501168 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 6.23182E-04 | 0 |
| I/M | rs760452917 |
-0.43 | 0.001 | N | 0.107 | 0.139 | 0.0762999501168 | gnomAD-4.0.0 | 5.02958E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.48489E-07 | 8.5243E-04 | 4.81757E-05 |
| I/V | rs763953118 |
-0.625 | None | N | 0.051 | 0.072 | 0.0954503805726 | gnomAD-2.1.1 | 1.22E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.68E-05 | 0 |
| I/V | rs763953118 |
-0.625 | None | N | 0.051 | 0.072 | 0.0954503805726 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.92901E-04 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| I/V | rs763953118 |
-0.625 | None | N | 0.051 | 0.072 | 0.0954503805726 | gnomAD-4.0.0 | 3.10478E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.22906E-05 | None | 0 | 0 | 3.39402E-06 | 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 | 0.1085 | likely_benign | 0.1013 | benign | -1.307 | Destabilizing | None | N | 0.079 | neutral | None | None | None | None | N |
| I/C | 0.5207 | ambiguous | 0.5342 | ambiguous | -0.848 | Destabilizing | 0.356 | N | 0.323 | neutral | None | None | None | None | N |
| I/D | 0.4504 | ambiguous | 0.4365 | ambiguous | -0.526 | Destabilizing | 0.072 | N | 0.489 | neutral | None | None | None | None | N |
| I/E | 0.264 | likely_benign | 0.2576 | benign | -0.527 | Destabilizing | 0.072 | N | 0.437 | neutral | None | None | None | None | N |
| I/F | 0.1242 | likely_benign | 0.1177 | benign | -0.845 | Destabilizing | 0.072 | N | 0.285 | neutral | None | None | None | None | N |
| I/G | 0.3345 | likely_benign | 0.3269 | benign | -1.618 | Destabilizing | 0.031 | N | 0.371 | neutral | None | None | None | None | N |
| I/H | 0.3288 | likely_benign | 0.326 | benign | -0.897 | Destabilizing | 0.628 | D | 0.391 | neutral | None | None | None | None | N |
| I/K | 0.1803 | likely_benign | 0.1775 | benign | -0.882 | Destabilizing | 0.055 | N | 0.383 | neutral | N | 0.473608596 | None | None | N |
| I/L | 0.0825 | likely_benign | 0.0847 | benign | -0.54 | Destabilizing | None | N | 0.044 | neutral | N | 0.464447608 | None | None | N |
| I/M | 0.073 | likely_benign | 0.0709 | benign | -0.503 | Destabilizing | 0.001 | N | 0.107 | neutral | N | 0.495888023 | None | None | N |
| I/N | 0.1868 | likely_benign | 0.1948 | benign | -0.683 | Destabilizing | 0.356 | N | 0.505 | neutral | None | None | None | None | N |
| I/P | 0.6429 | likely_pathogenic | 0.5869 | pathogenic | -0.763 | Destabilizing | None | N | 0.265 | neutral | None | None | None | None | N |
| I/Q | 0.2028 | likely_benign | 0.2009 | benign | -0.811 | Destabilizing | 0.356 | N | 0.507 | neutral | None | None | None | None | N |
| I/R | 0.1331 | likely_benign | 0.1309 | benign | -0.396 | Destabilizing | 0.106 | N | 0.516 | neutral | N | 0.51193491 | None | None | N |
| I/S | 0.138 | likely_benign | 0.1405 | benign | -1.296 | Destabilizing | 0.016 | N | 0.269 | neutral | None | None | None | None | N |
| I/T | 0.0754 | likely_benign | 0.0728 | benign | -1.174 | Destabilizing | 0.012 | N | 0.296 | neutral | N | 0.483593516 | None | None | N |
| I/V | 0.056 | likely_benign | 0.0543 | benign | -0.763 | Destabilizing | None | N | 0.051 | neutral | N | 0.405569876 | None | None | N |
| I/W | 0.6133 | likely_pathogenic | 0.5954 | pathogenic | -0.924 | Destabilizing | 0.864 | D | 0.403 | neutral | None | None | None | None | N |
| I/Y | 0.3779 | ambiguous | 0.3808 | ambiguous | -0.686 | Destabilizing | 0.356 | N | 0.419 | 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.