Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32907 | 98944;98945;98946 | chr2:178539216;178539215;178539214 | chr2:179403943;179403942;179403941 |
| N2AB | 31266 | 94021;94022;94023 | chr2:178539216;178539215;178539214 | chr2:179403943;179403942;179403941 |
| N2A | 30339 | 91240;91241;91242 | chr2:178539216;178539215;178539214 | chr2:179403943;179403942;179403941 |
| N2B | 23842 | 71749;71750;71751 | chr2:178539216;178539215;178539214 | chr2:179403943;179403942;179403941 |
| Novex-1 | 23967 | 72124;72125;72126 | chr2:178539216;178539215;178539214 | chr2:179403943;179403942;179403941 |
| Novex-2 | 24034 | 72325;72326;72327 | chr2:178539216;178539215;178539214 | chr2:179403943;179403942;179403941 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/F | rs774926230  |
-0.478 | 0.968 | N | 0.521 | 0.221 | 0.499727662827 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.77E-05 | 0 |
| L/F | rs774926230 |
-0.478 | 0.968 | N | 0.521 | 0.221 | 0.499727662827 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.92753E-04 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| L/F | rs774926230 |
-0.478 | 0.968 | N | 0.521 | 0.221 | 0.499727662827 | gnomAD-4.0.0 | 4.33797E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 8.91305E-05 | None | 0 | 0 | 2.54291E-06 | 0 | 0 |
| L/V | rs774926230 |
-0.006 | 0.026 | N | 0.167 | 0.11 | 0.327686398923 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.11445E-04 | None | 0 | None | 0 | 0 | 0 |
| L/V | rs774926230 |
-0.006 | 0.026 | N | 0.167 | 0.11 | 0.327686398923 | gnomAD-4.0.0 | 2.73694E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.03905E-05 | None | 0 | 0 | 1.79901E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.3158 | likely_benign | 0.2833 | benign | -0.77 | Destabilizing | 0.851 | D | 0.51 | neutral | None | None | None | None | N |
| L/C | 0.6686 | likely_pathogenic | 0.6164 | pathogenic | -0.677 | Destabilizing | 0.999 | D | 0.589 | neutral | None | None | None | None | N |
| L/D | 0.8691 | likely_pathogenic | 0.8559 | pathogenic | -0.045 | Destabilizing | 0.996 | D | 0.667 | neutral | None | None | None | None | N |
| L/E | 0.5749 | likely_pathogenic | 0.5792 | pathogenic | -0.124 | Destabilizing | 0.988 | D | 0.649 | neutral | None | None | None | None | N |
| L/F | 0.2358 | likely_benign | 0.2372 | benign | -0.672 | Destabilizing | 0.968 | D | 0.521 | neutral | N | 0.500357188 | None | None | N |
| L/G | 0.6847 | likely_pathogenic | 0.6096 | pathogenic | -0.96 | Destabilizing | 0.988 | D | 0.638 | neutral | None | None | None | None | N |
| L/H | 0.4001 | ambiguous | 0.4073 | ambiguous | -0.195 | Destabilizing | 0.999 | D | 0.679 | prob.neutral | N | 0.461222797 | None | None | N |
| L/I | 0.0916 | likely_benign | 0.0997 | benign | -0.385 | Destabilizing | 0.64 | D | 0.488 | neutral | N | 0.434593556 | None | None | N |
| L/K | 0.4969 | ambiguous | 0.4913 | ambiguous | -0.38 | Destabilizing | 0.988 | D | 0.519 | neutral | None | None | None | None | N |
| L/M | 0.0967 | likely_benign | 0.0829 | benign | -0.383 | Destabilizing | 0.307 | N | 0.272 | neutral | None | None | None | None | N |
| L/N | 0.5086 | ambiguous | 0.4585 | ambiguous | -0.192 | Destabilizing | 0.996 | D | 0.671 | neutral | None | None | None | None | N |
| L/P | 0.9166 | likely_pathogenic | 0.9064 | pathogenic | -0.479 | Destabilizing | 0.995 | D | 0.661 | neutral | N | 0.494257935 | None | None | N |
| L/Q | 0.2299 | likely_benign | 0.2314 | benign | -0.409 | Destabilizing | 0.988 | D | 0.637 | neutral | None | None | None | None | N |
| L/R | 0.4185 | ambiguous | 0.427 | ambiguous | 0.17 | Stabilizing | 0.984 | D | 0.637 | neutral | N | 0.463414953 | None | None | N |
| L/S | 0.3522 | ambiguous | 0.3208 | benign | -0.72 | Destabilizing | 0.988 | D | 0.495 | neutral | None | None | None | None | N |
| L/T | 0.1993 | likely_benign | 0.1825 | benign | -0.686 | Destabilizing | 0.919 | D | 0.51 | neutral | None | None | None | None | N |
| L/V | 0.0992 | likely_benign | 0.0974 | benign | -0.479 | Destabilizing | 0.026 | N | 0.167 | neutral | N | 0.401097058 | None | None | N |
| L/W | 0.4664 | ambiguous | 0.4668 | ambiguous | -0.669 | Destabilizing | 0.999 | D | 0.713 | prob.delet. | None | None | None | None | N |
| L/Y | 0.5564 | ambiguous | 0.5419 | ambiguous | -0.424 | Destabilizing | 0.996 | D | 0.58 | 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.