Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17137 | 51634;51635;51636 | chr2:178610117;178610116;178610115 | chr2:179474844;179474843;179474842 |
| N2AB | 15496 | 46711;46712;46713 | chr2:178610117;178610116;178610115 | chr2:179474844;179474843;179474842 |
| N2A | 14569 | 43930;43931;43932 | chr2:178610117;178610116;178610115 | chr2:179474844;179474843;179474842 |
| N2B | 8072 | 24439;24440;24441 | chr2:178610117;178610116;178610115 | chr2:179474844;179474843;179474842 |
| Novex-1 | 8197 | 24814;24815;24816 | chr2:178610117;178610116;178610115 | chr2:179474844;179474843;179474842 |
| Novex-2 | 8264 | 25015;25016;25017 | chr2:178610117;178610116;178610115 | chr2:179474844;179474843;179474842 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/K | rs751177363  |
0.518 | 0.999 | N | 0.762 | 0.279 | 0.221019684889 | gnomAD-2.1.1 | 7.16E-06 | None | None | None | None | N | None | 8.28E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| N/K | rs751177363 |
0.518 | 0.999 | N | 0.762 | 0.279 | 0.221019684889 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 9.66E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| N/K | rs751177363 |
0.518 | 0.999 | N | 0.762 | 0.279 | 0.221019684889 | gnomAD-4.0.0 | 6.41355E-06 | None | None | None | None | N | None | 8.46998E-05 | 0 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.3454 | ambiguous | 0.3788 | ambiguous | -0.027 | Destabilizing | 0.999 | D | 0.699 | prob.delet. | None | None | None | None | N |
| N/C | 0.4702 | ambiguous | 0.5345 | ambiguous | 0.007 | Stabilizing | 1.0 | D | 0.661 | prob.neutral | None | None | None | None | N |
| N/D | 0.2566 | likely_benign | 0.311 | benign | 0.222 | Stabilizing | 0.997 | D | 0.714 | prob.delet. | N | 0.438457793 | None | None | N |
| N/E | 0.4505 | ambiguous | 0.5233 | ambiguous | 0.18 | Stabilizing | 0.998 | D | 0.754 | deleterious | None | None | None | None | N |
| N/F | 0.6451 | likely_pathogenic | 0.7031 | pathogenic | -0.683 | Destabilizing | 1.0 | D | 0.659 | prob.neutral | None | None | None | None | N |
| N/G | 0.4349 | ambiguous | 0.4829 | ambiguous | -0.12 | Destabilizing | 0.998 | D | 0.633 | neutral | None | None | None | None | N |
| N/H | 0.2054 | likely_benign | 0.2261 | benign | -0.077 | Destabilizing | 0.999 | D | 0.655 | prob.neutral | N | 0.462121939 | None | None | N |
| N/I | 0.3048 | likely_benign | 0.3587 | ambiguous | 0.119 | Stabilizing | 0.999 | D | 0.709 | prob.delet. | N | 0.467348951 | None | None | N |
| N/K | 0.5383 | ambiguous | 0.6194 | pathogenic | 0.154 | Stabilizing | 0.999 | D | 0.762 | deleterious | N | 0.47922698 | None | None | N |
| N/L | 0.3646 | ambiguous | 0.4097 | ambiguous | 0.119 | Stabilizing | 0.999 | D | 0.681 | prob.neutral | None | None | None | None | N |
| N/M | 0.3814 | ambiguous | 0.409 | ambiguous | -0.077 | Destabilizing | 1.0 | D | 0.649 | prob.neutral | None | None | None | None | N |
| N/P | 0.8335 | likely_pathogenic | 0.8176 | pathogenic | 0.093 | Stabilizing | 0.999 | D | 0.701 | prob.delet. | None | None | None | None | N |
| N/Q | 0.4447 | ambiguous | 0.4982 | ambiguous | -0.201 | Destabilizing | 0.999 | D | 0.689 | prob.delet. | None | None | None | None | N |
| N/R | 0.6574 | likely_pathogenic | 0.7397 | pathogenic | 0.224 | Stabilizing | 0.999 | D | 0.735 | deleterious | None | None | None | None | N |
| N/S | 0.1379 | likely_benign | 0.146 | benign | -0.061 | Destabilizing | 0.997 | D | 0.663 | prob.neutral | N | 0.437879003 | None | None | N |
| N/T | 0.1733 | likely_benign | 0.1913 | benign | 0.015 | Stabilizing | 0.997 | D | 0.741 | deleterious | N | 0.47910955 | None | None | N |
| N/V | 0.319 | likely_benign | 0.3663 | ambiguous | 0.093 | Stabilizing | 0.999 | D | 0.665 | prob.neutral | None | None | None | None | N |
| N/W | 0.8594 | likely_pathogenic | 0.8871 | pathogenic | -0.866 | Destabilizing | 1.0 | D | 0.581 | neutral | None | None | None | None | N |
| N/Y | 0.2419 | likely_benign | 0.2785 | benign | -0.499 | Destabilizing | 1.0 | D | 0.669 | prob.neutral | N | 0.461107981 | 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.