Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20718 | 62377;62378;62379 | chr2:178589573;178589572;178589571 | chr2:179454300;179454299;179454298 |
| N2AB | 19077 | 57454;57455;57456 | chr2:178589573;178589572;178589571 | chr2:179454300;179454299;179454298 |
| N2A | 18150 | 54673;54674;54675 | chr2:178589573;178589572;178589571 | chr2:179454300;179454299;179454298 |
| N2B | 11653 | 35182;35183;35184 | chr2:178589573;178589572;178589571 | chr2:179454300;179454299;179454298 |
| Novex-1 | 11778 | 35557;35558;35559 | chr2:178589573;178589572;178589571 | chr2:179454300;179454299;179454298 |
| Novex-2 | 11845 | 35758;35759;35760 | chr2:178589573;178589572;178589571 | chr2:179454300;179454299;179454298 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | None | None | 0.954 | N | 0.591 | 0.227 | 0.455996456696 | gnomAD-4.0.0 | 4.77631E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 4.29997E-05 | 0 |
| V/E | rs976375342  |
-3.153 | 0.998 | N | 0.701 | 0.455 | 0.707878224569 | gnomAD-2.1.1 | 8.07E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.79E-05 | 0 |
| V/E | rs976375342 |
-3.153 | 0.998 | N | 0.701 | 0.455 | 0.707878224569 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| V/E | rs976375342 |
-3.153 | 0.998 | N | 0.701 | 0.455 | 0.707878224569 | gnomAD-4.0.0 | 1.02565E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.91527E-05 | 0 | 0 |
| V/L | None | None | 0.031 | N | 0.282 | 0.178 | 0.299770980665 | gnomAD-4.0.0 | 1.36875E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79918E-06 | 0 | 0 |
| V/M | rs2049781632 |
None | 0.989 | N | 0.708 | 0.257 | 0.465975295344 | gnomAD-4.0.0 | 6.84375E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15969E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.5583 | ambiguous | 0.5662 | pathogenic | -1.965 | Destabilizing | 0.954 | D | 0.591 | neutral | N | 0.437788576 | None | None | N |
| V/C | 0.8425 | likely_pathogenic | 0.8209 | pathogenic | -1.33 | Destabilizing | 1.0 | D | 0.692 | prob.neutral | None | None | None | None | N |
| V/D | 0.9759 | likely_pathogenic | 0.9679 | pathogenic | -2.871 | Highly Destabilizing | 0.999 | D | 0.767 | deleterious | None | None | None | None | N |
| V/E | 0.9351 | likely_pathogenic | 0.9246 | pathogenic | -2.693 | Highly Destabilizing | 0.998 | D | 0.701 | prob.neutral | N | 0.475229898 | None | None | N |
| V/F | 0.6622 | likely_pathogenic | 0.6677 | pathogenic | -1.291 | Destabilizing | 0.991 | D | 0.689 | prob.neutral | None | None | None | None | N |
| V/G | 0.7616 | likely_pathogenic | 0.7043 | pathogenic | -2.444 | Highly Destabilizing | 0.998 | D | 0.716 | prob.delet. | N | 0.512016976 | None | None | N |
| V/H | 0.9783 | likely_pathogenic | 0.9742 | pathogenic | -2.333 | Highly Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| V/I | 0.0998 | likely_benign | 0.1172 | benign | -0.646 | Destabilizing | 0.871 | D | 0.505 | neutral | None | None | None | None | N |
| V/K | 0.9697 | likely_pathogenic | 0.9635 | pathogenic | -1.819 | Destabilizing | 0.999 | D | 0.685 | prob.neutral | None | None | None | None | N |
| V/L | 0.3839 | ambiguous | 0.4302 | ambiguous | -0.646 | Destabilizing | 0.031 | N | 0.282 | neutral | N | 0.416546513 | None | None | N |
| V/M | 0.4732 | ambiguous | 0.5384 | ambiguous | -0.494 | Destabilizing | 0.989 | D | 0.708 | prob.delet. | N | 0.512190335 | None | None | N |
| V/N | 0.929 | likely_pathogenic | 0.9113 | pathogenic | -2.015 | Highly Destabilizing | 0.999 | D | 0.767 | deleterious | None | None | None | None | N |
| V/P | 0.9506 | likely_pathogenic | 0.932 | pathogenic | -1.059 | Destabilizing | 0.999 | D | 0.721 | prob.delet. | None | None | None | None | N |
| V/Q | 0.936 | likely_pathogenic | 0.9216 | pathogenic | -1.944 | Destabilizing | 0.999 | D | 0.728 | prob.delet. | None | None | None | None | N |
| V/R | 0.9595 | likely_pathogenic | 0.946 | pathogenic | -1.544 | Destabilizing | 0.999 | D | 0.763 | deleterious | None | None | None | None | N |
| V/S | 0.8146 | likely_pathogenic | 0.7767 | pathogenic | -2.498 | Highly Destabilizing | 0.999 | D | 0.69 | prob.neutral | None | None | None | None | N |
| V/T | 0.6574 | likely_pathogenic | 0.6354 | pathogenic | -2.2 | Highly Destabilizing | 0.985 | D | 0.605 | neutral | None | None | None | None | N |
| V/W | 0.9865 | likely_pathogenic | 0.9858 | pathogenic | -1.881 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| V/Y | 0.9501 | likely_pathogenic | 0.9443 | pathogenic | -1.464 | Destabilizing | 0.999 | D | 0.721 | 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.