Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9381 | 28366;28367;28368 | chr2:178711095;178711094;178711093 | chr2:179575822;179575821;179575820 |
| N2AB | 9064 | 27415;27416;27417 | chr2:178711095;178711094;178711093 | chr2:179575822;179575821;179575820 |
| N2A | 8137 | 24634;24635;24636 | chr2:178711095;178711094;178711093 | chr2:179575822;179575821;179575820 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/C | rs763983068  |
-0.188 | 0.999 | None | 0.539 | 0.367 | None | gnomAD-2.1.1 | 4.12E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.70532E-04 |
| S/C | rs763983068 |
-0.188 | 0.999 | None | 0.539 | 0.367 | None | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| S/C | rs763983068 |
-0.188 | 0.999 | None | 0.539 | 0.367 | None | gnomAD-4.0.0 | 1.30878E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.56573E-05 | 0 | 1.61703E-05 | 0 | 1.61129E-05 |
| S/P | rs1376908968 |
-0.47 | 0.984 | None | 0.48 | 0.473 | 0.396645960531 | gnomAD-2.1.1 | 4.12E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.62E-05 | None | 0 | None | 0 | 0 | 0 |
| S/P | rs1376908968 |
-0.47 | 0.984 | None | 0.48 | 0.473 | 0.396645960531 | gnomAD-4.0.0 | 6.88643E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.52487E-05 | None | 0 | 0 | 0 | 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 | 0.1017 | likely_benign | 0.1071 | benign | -0.449 | Destabilizing | 0.64 | D | 0.313 | neutral | None | None | None | None | N |
| S/C | 0.2287 | likely_benign | 0.2242 | benign | -0.272 | Destabilizing | 0.999 | D | 0.539 | neutral | None | None | None | None | N |
| S/D | 0.3767 | ambiguous | 0.4788 | ambiguous | -0.161 | Destabilizing | 0.919 | D | 0.36 | neutral | None | None | None | None | N |
| S/E | 0.3952 | ambiguous | 0.492 | ambiguous | -0.272 | Destabilizing | 0.919 | D | 0.355 | neutral | None | None | None | None | N |
| S/F | 0.1866 | likely_benign | 0.2178 | benign | -1.124 | Destabilizing | 0.984 | D | 0.63 | neutral | None | None | None | None | N |
| S/G | 0.1347 | likely_benign | 0.1463 | benign | -0.524 | Destabilizing | 0.919 | D | 0.335 | neutral | None | None | None | None | N |
| S/H | 0.2983 | likely_benign | 0.3339 | benign | -1.05 | Destabilizing | 0.999 | D | 0.534 | neutral | None | None | None | None | N |
| S/I | 0.1594 | likely_benign | 0.1985 | benign | -0.381 | Destabilizing | 0.976 | D | 0.563 | neutral | None | None | None | None | N |
| S/K | 0.4562 | ambiguous | 0.552 | ambiguous | -0.497 | Destabilizing | 0.919 | D | 0.359 | neutral | None | None | None | None | N |
| S/L | 0.1175 | likely_benign | 0.1307 | benign | -0.381 | Destabilizing | 0.851 | D | 0.547 | neutral | None | None | None | None | N |
| S/M | 0.1915 | likely_benign | 0.2018 | benign | 0.019 | Stabilizing | 0.999 | D | 0.537 | neutral | None | None | None | None | N |
| S/N | 0.124 | likely_benign | 0.1454 | benign | -0.204 | Destabilizing | 0.919 | D | 0.38 | neutral | None | None | None | None | N |
| S/P | 0.627 | likely_pathogenic | 0.7503 | pathogenic | -0.378 | Destabilizing | 0.984 | D | 0.48 | neutral | None | None | None | None | N |
| S/Q | 0.399 | ambiguous | 0.457 | ambiguous | -0.543 | Destabilizing | 0.988 | D | 0.457 | neutral | None | None | None | None | N |
| S/R | 0.4029 | ambiguous | 0.5004 | ambiguous | -0.221 | Destabilizing | 0.976 | D | 0.485 | neutral | None | None | None | None | N |
| S/T | 0.0664 | likely_benign | 0.0708 | benign | -0.323 | Destabilizing | 0.016 | N | 0.151 | neutral | None | None | None | None | N |
| S/V | 0.1763 | likely_benign | 0.2073 | benign | -0.378 | Destabilizing | 0.851 | D | 0.538 | neutral | None | None | None | None | N |
| S/W | 0.386 | ambiguous | 0.473 | ambiguous | -1.108 | Destabilizing | 0.999 | D | 0.677 | prob.neutral | None | None | None | None | N |
| S/Y | 0.1895 | likely_benign | 0.2242 | benign | -0.84 | Destabilizing | 0.995 | D | 0.637 | 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.