Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2162 | 6709;6710;6711 | chr2:178775380;178775379;178775378 | chr2:179640107;179640106;179640105 |
| N2AB | 2162 | 6709;6710;6711 | chr2:178775380;178775379;178775378 | chr2:179640107;179640106;179640105 |
| N2A | 2162 | 6709;6710;6711 | chr2:178775380;178775379;178775378 | chr2:179640107;179640106;179640105 |
| N2B | 2116 | 6571;6572;6573 | chr2:178775380;178775379;178775378 | chr2:179640107;179640106;179640105 |
| Novex-1 | 2116 | 6571;6572;6573 | chr2:178775380;178775379;178775378 | chr2:179640107;179640106;179640105 |
| Novex-2 | 2116 | 6571;6572;6573 | chr2:178775380;178775379;178775378 | chr2:179640107;179640106;179640105 |
| Novex-3 | 2162 | 6709;6710;6711 | chr2:178775380;178775379;178775378 | chr2:179640107;179640106;179640105 |
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/R | rs2092105586  |
None | 1.0 | D | 0.874 | 0.609 | 0.445107144611 | gnomAD-4.0.0 | 8.40225E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.18751E-06 | 0 | 0 |
| S/T | None | None | 0.999 | N | 0.604 | 0.348 | 0.355450299083 | gnomAD-4.0.0 | 1.59064E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77485E-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 | 0.306 | likely_benign | 0.3327 | benign | -0.651 | Destabilizing | 0.998 | D | 0.585 | neutral | None | None | None | None | N |
| S/C | 0.3568 | ambiguous | 0.3724 | ambiguous | -0.421 | Destabilizing | 1.0 | D | 0.847 | deleterious | N | 0.49457471 | None | None | N |
| S/D | 0.9668 | likely_pathogenic | 0.9766 | pathogenic | -0.884 | Destabilizing | 0.999 | D | 0.663 | neutral | None | None | None | None | N |
| S/E | 0.9858 | likely_pathogenic | 0.989 | pathogenic | -0.779 | Destabilizing | 0.999 | D | 0.65 | neutral | None | None | None | None | N |
| S/F | 0.968 | likely_pathogenic | 0.9698 | pathogenic | -0.475 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| S/G | 0.4885 | ambiguous | 0.5363 | ambiguous | -1.015 | Destabilizing | 0.999 | D | 0.63 | neutral | D | 0.587572997 | None | None | N |
| S/H | 0.9599 | likely_pathogenic | 0.9658 | pathogenic | -1.512 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| S/I | 0.9292 | likely_pathogenic | 0.9355 | pathogenic | 0.241 | Stabilizing | 1.0 | D | 0.887 | deleterious | D | 0.55248208 | None | None | N |
| S/K | 0.9987 | likely_pathogenic | 0.9989 | pathogenic | -0.685 | Destabilizing | 0.999 | D | 0.664 | neutral | None | None | None | None | N |
| S/L | 0.8134 | likely_pathogenic | 0.8411 | pathogenic | 0.241 | Stabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| S/M | 0.8686 | likely_pathogenic | 0.8823 | pathogenic | 0.337 | Stabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| S/N | 0.8242 | likely_pathogenic | 0.8562 | pathogenic | -0.975 | Destabilizing | 0.999 | D | 0.667 | neutral | D | 0.614447508 | None | None | N |
| S/P | 0.997 | likely_pathogenic | 0.9975 | pathogenic | -0.019 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| S/Q | 0.9781 | likely_pathogenic | 0.9809 | pathogenic | -0.871 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| S/R | 0.9969 | likely_pathogenic | 0.9973 | pathogenic | -0.871 | Destabilizing | 1.0 | D | 0.874 | deleterious | D | 0.614320921 | None | None | N |
| S/T | 0.3013 | likely_benign | 0.3348 | benign | -0.763 | Destabilizing | 0.999 | D | 0.604 | neutral | N | 0.500958391 | None | None | N |
| S/V | 0.861 | likely_pathogenic | 0.877 | pathogenic | -0.019 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| S/W | 0.9792 | likely_pathogenic | 0.9797 | pathogenic | -0.653 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| S/Y | 0.9463 | likely_pathogenic | 0.9482 | pathogenic | -0.299 | Destabilizing | 1.0 | D | 0.89 | deleterious | 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.