Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32915 | 98968;98969;98970 | chr2:178539192;178539191;178539190 | chr2:179403919;179403918;179403917 |
| N2AB | 31274 | 94045;94046;94047 | chr2:178539192;178539191;178539190 | chr2:179403919;179403918;179403917 |
| N2A | 30347 | 91264;91265;91266 | chr2:178539192;178539191;178539190 | chr2:179403919;179403918;179403917 |
| N2B | 23850 | 71773;71774;71775 | chr2:178539192;178539191;178539190 | chr2:179403919;179403918;179403917 |
| Novex-1 | 23975 | 72148;72149;72150 | chr2:178539192;178539191;178539190 | chr2:179403919;179403918;179403917 |
| Novex-2 | 24042 | 72349;72350;72351 | chr2:178539192;178539191;178539190 | chr2:179403919;179403918;179403917 |
| 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/C | rs760917372  |
-0.702 | 0.999 | N | 0.625 | 0.293 | 0.461495907335 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.87E-06 | 0 |
| S/C | rs760917372 |
-0.702 | 0.999 | N | 0.625 | 0.293 | 0.461495907335 | gnomAD-4.0.0 | 1.36843E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79898E-06 | 0 | 0 |
| S/G | rs760917372 |
-1.232 | 0.026 | N | 0.235 | 0.153 | 0.17948927462 | 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 |
| S/G | rs760917372 |
-1.232 | 0.026 | N | 0.235 | 0.153 | 0.17948927462 | 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 | rs760917372 |
-1.232 | 0.026 | N | 0.235 | 0.153 | 0.17948927462 | gnomAD-4.0.0 | 8.67571E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 1.31579E-03 | 5.08574E-06 | 0 | 0 |
| S/R | None | None | 0.968 | N | 0.611 | 0.274 | 0.42748209135 | gnomAD-4.0.0 | 3.60097E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.93751E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1319 | likely_benign | 0.1287 | benign | -0.861 | Destabilizing | 0.702 | D | 0.425 | neutral | None | None | None | None | N |
| S/C | 0.1635 | likely_benign | 0.1608 | benign | -0.774 | Destabilizing | 0.999 | D | 0.625 | neutral | N | 0.520156457 | None | None | N |
| S/D | 0.872 | likely_pathogenic | 0.8779 | pathogenic | -0.685 | Destabilizing | 0.851 | D | 0.397 | neutral | None | None | None | None | N |
| S/E | 0.9033 | likely_pathogenic | 0.9111 | pathogenic | -0.625 | Destabilizing | 0.919 | D | 0.419 | neutral | None | None | None | None | N |
| S/F | 0.4579 | ambiguous | 0.4882 | ambiguous | -0.921 | Destabilizing | 0.996 | D | 0.707 | prob.neutral | None | None | None | None | N |
| S/G | 0.2274 | likely_benign | 0.2102 | benign | -1.149 | Destabilizing | 0.026 | N | 0.235 | neutral | N | 0.508131309 | None | None | N |
| S/H | 0.6057 | likely_pathogenic | 0.6058 | pathogenic | -1.54 | Destabilizing | 0.997 | D | 0.623 | neutral | None | None | None | None | N |
| S/I | 0.3472 | ambiguous | 0.329 | benign | -0.18 | Destabilizing | 0.984 | D | 0.693 | prob.neutral | N | 0.48777468 | None | None | N |
| S/K | 0.9474 | likely_pathogenic | 0.9524 | pathogenic | -0.58 | Destabilizing | 0.919 | D | 0.435 | neutral | None | None | None | None | N |
| S/L | 0.2029 | likely_benign | 0.2116 | benign | -0.18 | Destabilizing | 0.988 | D | 0.615 | neutral | None | None | None | None | N |
| S/M | 0.3079 | likely_benign | 0.2769 | benign | -0.064 | Destabilizing | 0.999 | D | 0.621 | neutral | None | None | None | None | N |
| S/N | 0.3157 | likely_benign | 0.3 | benign | -0.77 | Destabilizing | 0.026 | N | 0.415 | neutral | N | 0.47592289 | None | None | N |
| S/P | 0.9732 | likely_pathogenic | 0.9791 | pathogenic | -0.374 | Destabilizing | 0.996 | D | 0.603 | neutral | None | None | None | None | N |
| S/Q | 0.7542 | likely_pathogenic | 0.7524 | pathogenic | -0.867 | Destabilizing | 0.988 | D | 0.503 | neutral | None | None | None | None | N |
| S/R | 0.908 | likely_pathogenic | 0.9248 | pathogenic | -0.585 | Destabilizing | 0.968 | D | 0.611 | neutral | N | 0.487254605 | None | None | N |
| S/T | 0.1278 | likely_benign | 0.1249 | benign | -0.717 | Destabilizing | 0.896 | D | 0.43 | neutral | N | 0.42985974 | None | None | N |
| S/V | 0.3501 | ambiguous | 0.3202 | benign | -0.374 | Destabilizing | 0.988 | D | 0.629 | neutral | None | None | None | None | N |
| S/W | 0.7039 | likely_pathogenic | 0.7412 | pathogenic | -0.914 | Destabilizing | 0.999 | D | 0.719 | prob.delet. | None | None | None | None | N |
| S/Y | 0.418 | ambiguous | 0.4576 | ambiguous | -0.601 | Destabilizing | 0.996 | D | 0.709 | prob.delet. | 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.