Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26415 | 79468;79469;79470 | chr2:178566889;178566888;178566887 | chr2:179431616;179431615;179431614 |
| N2AB | 24774 | 74545;74546;74547 | chr2:178566889;178566888;178566887 | chr2:179431616;179431615;179431614 |
| N2A | 23847 | 71764;71765;71766 | chr2:178566889;178566888;178566887 | chr2:179431616;179431615;179431614 |
| N2B | 17350 | 52273;52274;52275 | chr2:178566889;178566888;178566887 | chr2:179431616;179431615;179431614 |
| Novex-1 | 17475 | 52648;52649;52650 | chr2:178566889;178566888;178566887 | chr2:179431616;179431615;179431614 |
| Novex-2 | 17542 | 52849;52850;52851 | chr2:178566889;178566888;178566887 | chr2:179431616;179431615;179431614 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/R | rs1706073598  |
None | 1.0 | D | 0.791 | 0.647 | 0.685279086442 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | rs1706073598 |
None | 1.0 | D | 0.791 | 0.647 | 0.685279086442 | gnomAD-4.0.0 | 7.68945E-06 | None | None | None | None | I | None | 0 | 8.47946E-05 | None | 0 | 0 | None | 0 | 0 | 2.39371E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.7929 | likely_pathogenic | 0.7696 | pathogenic | -0.215 | Destabilizing | 1.0 | D | 0.615 | neutral | N | 0.513997574 | None | None | I |
| G/C | 0.8408 | likely_pathogenic | 0.847 | pathogenic | -0.889 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | I |
| G/D | 0.8954 | likely_pathogenic | 0.8622 | pathogenic | -0.435 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | None | None | None | None | I |
| G/E | 0.9307 | likely_pathogenic | 0.914 | pathogenic | -0.581 | Destabilizing | 1.0 | D | 0.787 | deleterious | D | 0.531545624 | None | None | I |
| G/F | 0.9781 | likely_pathogenic | 0.9738 | pathogenic | -0.97 | Destabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | I |
| G/H | 0.9352 | likely_pathogenic | 0.9245 | pathogenic | -0.318 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | I |
| G/I | 0.9738 | likely_pathogenic | 0.9669 | pathogenic | -0.481 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | I |
| G/K | 0.9215 | likely_pathogenic | 0.9068 | pathogenic | -0.453 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | I |
| G/L | 0.9585 | likely_pathogenic | 0.9508 | pathogenic | -0.481 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | I |
| G/M | 0.9681 | likely_pathogenic | 0.9633 | pathogenic | -0.556 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | I |
| G/N | 0.836 | likely_pathogenic | 0.7986 | pathogenic | -0.225 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | None | None | None | None | I |
| G/P | 0.997 | likely_pathogenic | 0.9958 | pathogenic | -0.371 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | I |
| G/Q | 0.8947 | likely_pathogenic | 0.8756 | pathogenic | -0.46 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | I |
| G/R | 0.878 | likely_pathogenic | 0.8632 | pathogenic | -0.117 | Destabilizing | 1.0 | D | 0.791 | deleterious | D | 0.527190758 | None | None | I |
| G/S | 0.598 | likely_pathogenic | 0.5666 | pathogenic | -0.377 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | I |
| G/T | 0.9164 | likely_pathogenic | 0.897 | pathogenic | -0.459 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | I |
| G/V | 0.9576 | likely_pathogenic | 0.9491 | pathogenic | -0.371 | Destabilizing | 1.0 | D | 0.788 | deleterious | D | 0.568514603 | None | None | I |
| G/W | 0.9759 | likely_pathogenic | 0.9709 | pathogenic | -1.062 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | I |
| G/Y | 0.9611 | likely_pathogenic | 0.9522 | pathogenic | -0.757 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | 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.