Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27418 | 82477;82478;82479 | chr2:178563880;178563879;178563878 | chr2:179428607;179428606;179428605 |
| N2AB | 25777 | 77554;77555;77556 | chr2:178563880;178563879;178563878 | chr2:179428607;179428606;179428605 |
| N2A | 24850 | 74773;74774;74775 | chr2:178563880;178563879;178563878 | chr2:179428607;179428606;179428605 |
| N2B | 18353 | 55282;55283;55284 | chr2:178563880;178563879;178563878 | chr2:179428607;179428606;179428605 |
| Novex-1 | 18478 | 55657;55658;55659 | chr2:178563880;178563879;178563878 | chr2:179428607;179428606;179428605 |
| Novex-2 | 18545 | 55858;55859;55860 | chr2:178563880;178563879;178563878 | chr2:179428607;179428606;179428605 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/I | rs750733161  |
-0.024 | 0.919 | N | 0.597 | 0.356 | 0.394536629495 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| T/I | rs750733161 |
-0.024 | 0.919 | N | 0.597 | 0.356 | 0.394536629495 | gnomAD-4.0.0 | 2.73694E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59803E-06 | 0 | 0 |
| T/S | None | None | 0.979 | N | 0.515 | 0.293 | 0.285698343383 | gnomAD-4.0.0 | 3.60097E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.9375E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.2689 | likely_benign | 0.2726 | benign | -0.839 | Destabilizing | 0.919 | D | 0.508 | neutral | N | 0.483078149 | None | None | N |
| T/C | 0.7558 | likely_pathogenic | 0.7617 | pathogenic | -0.574 | Destabilizing | 1.0 | D | 0.714 | prob.delet. | None | None | None | None | N |
| T/D | 0.9177 | likely_pathogenic | 0.9382 | pathogenic | 0.18 | Stabilizing | 0.998 | D | 0.728 | prob.delet. | None | None | None | None | N |
| T/E | 0.8449 | likely_pathogenic | 0.8823 | pathogenic | 0.178 | Stabilizing | 0.995 | D | 0.695 | prob.neutral | None | None | None | None | N |
| T/F | 0.686 | likely_pathogenic | 0.7096 | pathogenic | -0.919 | Destabilizing | 0.991 | D | 0.74 | deleterious | None | None | None | None | N |
| T/G | 0.6423 | likely_pathogenic | 0.6518 | pathogenic | -1.083 | Destabilizing | 0.995 | D | 0.673 | neutral | None | None | None | None | N |
| T/H | 0.6538 | likely_pathogenic | 0.6907 | pathogenic | -1.234 | Destabilizing | 1.0 | D | 0.734 | prob.delet. | None | None | None | None | N |
| T/I | 0.4215 | ambiguous | 0.4195 | ambiguous | -0.287 | Destabilizing | 0.919 | D | 0.597 | neutral | N | 0.494103219 | None | None | N |
| T/K | 0.7299 | likely_pathogenic | 0.7638 | pathogenic | -0.593 | Destabilizing | 0.995 | D | 0.715 | prob.delet. | None | None | None | None | N |
| T/L | 0.2609 | likely_benign | 0.2704 | benign | -0.287 | Destabilizing | 0.938 | D | 0.511 | neutral | None | None | None | None | N |
| T/M | 0.1486 | likely_benign | 0.1586 | benign | -0.133 | Destabilizing | 0.999 | D | 0.725 | prob.delet. | None | None | None | None | N |
| T/N | 0.3466 | ambiguous | 0.3839 | ambiguous | -0.511 | Destabilizing | 0.998 | D | 0.699 | prob.neutral | N | 0.510936754 | None | None | N |
| T/P | 0.8308 | likely_pathogenic | 0.8285 | pathogenic | -0.439 | Destabilizing | 0.998 | D | 0.725 | prob.delet. | N | 0.50874261 | None | None | N |
| T/Q | 0.5672 | likely_pathogenic | 0.602 | pathogenic | -0.665 | Destabilizing | 0.998 | D | 0.739 | prob.delet. | None | None | None | None | N |
| T/R | 0.6625 | likely_pathogenic | 0.7092 | pathogenic | -0.352 | Destabilizing | 0.995 | D | 0.731 | prob.delet. | None | None | None | None | N |
| T/S | 0.3154 | likely_benign | 0.3226 | benign | -0.87 | Destabilizing | 0.979 | D | 0.515 | neutral | N | 0.476594894 | None | None | N |
| T/V | 0.308 | likely_benign | 0.3014 | benign | -0.439 | Destabilizing | 0.086 | N | 0.32 | neutral | None | None | None | None | N |
| T/W | 0.9104 | likely_pathogenic | 0.9276 | pathogenic | -0.813 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| T/Y | 0.7303 | likely_pathogenic | 0.7639 | pathogenic | -0.587 | Destabilizing | 0.995 | D | 0.739 | 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.