Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35788 | 107587;107588;107589 | chr2:178528289;178528288;178528287 | chr2:179393016;179393015;179393014 |
| N2AB | 34147 | 102664;102665;102666 | chr2:178528289;178528288;178528287 | chr2:179393016;179393015;179393014 |
| N2A | 33220 | 99883;99884;99885 | chr2:178528289;178528288;178528287 | chr2:179393016;179393015;179393014 |
| N2B | 26723 | 80392;80393;80394 | chr2:178528289;178528288;178528287 | chr2:179393016;179393015;179393014 |
| Novex-1 | 26848 | 80767;80768;80769 | chr2:178528289;178528288;178528287 | chr2:179393016;179393015;179393014 |
| Novex-2 | 26915 | 80968;80969;80970 | chr2:178528289;178528288;178528287 | chr2:179393016;179393015;179393014 |
| 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/A | rs773306658  |
-0.361 | 0.987 | N | 0.465 | 0.391 | 0.326616659874 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.86E-06 | 0 |
| S/A | rs773306658 |
-0.361 | 0.987 | N | 0.465 | 0.391 | 0.326616659874 | gnomAD-4.0.0 | 1.5914E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85834E-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 | 0.1149 | likely_benign | 0.125 | benign | -1.054 | Destabilizing | 0.987 | D | 0.465 | neutral | N | 0.468317419 | None | None | I |
| S/C | 0.2716 | likely_benign | 0.3195 | benign | -0.604 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | N | 0.515764649 | None | None | I |
| S/D | 0.5795 | likely_pathogenic | 0.6367 | pathogenic | 0.343 | Stabilizing | 1.0 | D | 0.62 | neutral | None | None | None | None | I |
| S/E | 0.6758 | likely_pathogenic | 0.7033 | pathogenic | 0.362 | Stabilizing | 0.999 | D | 0.599 | neutral | None | None | None | None | I |
| S/F | 0.2559 | likely_benign | 0.2827 | benign | -1.3 | Destabilizing | 0.994 | D | 0.721 | prob.delet. | N | 0.464431752 | None | None | I |
| S/G | 0.1888 | likely_benign | 0.2104 | benign | -1.296 | Destabilizing | 0.999 | D | 0.525 | neutral | None | None | None | None | I |
| S/H | 0.4973 | ambiguous | 0.526 | ambiguous | -1.632 | Destabilizing | 0.999 | D | 0.733 | prob.delet. | None | None | None | None | I |
| S/I | 0.2865 | likely_benign | 0.3277 | benign | -0.502 | Destabilizing | 0.999 | D | 0.749 | deleterious | None | None | None | None | I |
| S/K | 0.8554 | likely_pathogenic | 0.8792 | pathogenic | -0.325 | Destabilizing | 0.996 | D | 0.615 | neutral | None | None | None | None | I |
| S/L | 0.1559 | likely_benign | 0.1749 | benign | -0.502 | Destabilizing | 0.992 | D | 0.675 | neutral | None | None | None | None | I |
| S/M | 0.2988 | likely_benign | 0.3309 | benign | -0.257 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | I |
| S/N | 0.1794 | likely_benign | 0.2142 | benign | -0.302 | Destabilizing | 0.999 | D | 0.619 | neutral | None | None | None | None | I |
| S/P | 0.505 | ambiguous | 0.6363 | pathogenic | -0.655 | Destabilizing | 0.999 | D | 0.75 | deleterious | N | 0.509222679 | None | None | I |
| S/Q | 0.6612 | likely_pathogenic | 0.6837 | pathogenic | -0.418 | Destabilizing | 1.0 | D | 0.667 | neutral | None | None | None | None | I |
| S/R | 0.7859 | likely_pathogenic | 0.8107 | pathogenic | -0.33 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | I |
| S/T | 0.1037 | likely_benign | 0.1165 | benign | -0.454 | Destabilizing | 0.994 | D | 0.522 | neutral | N | 0.375252543 | None | None | I |
| S/V | 0.2679 | likely_benign | 0.3055 | benign | -0.655 | Destabilizing | 0.998 | D | 0.693 | prob.neutral | None | None | None | None | I |
| S/W | 0.521 | ambiguous | 0.5382 | ambiguous | -1.17 | Destabilizing | 1.0 | D | 0.72 | prob.delet. | None | None | None | None | I |
| S/Y | 0.2685 | likely_benign | 0.2793 | benign | -0.912 | Destabilizing | 0.733 | D | 0.461 | neutral | N | 0.460199368 | None | None | I |
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.