Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6029 | 18310;18311;18312 | chr2:178730315;178730314;178730313 | chr2:179595042;179595041;179595040 |
| N2AB | 5712 | 17359;17360;17361 | chr2:178730315;178730314;178730313 | chr2:179595042;179595041;179595040 |
| N2A | 4785 | 14578;14579;14580 | chr2:178730315;178730314;178730313 | chr2:179595042;179595041;179595040 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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/G | rs770360579  |
-2.899 | 1.0 | D | 0.853 | 0.633 | 0.878771411214 | gnomAD-2.1.1 | 4.11E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.75E-05 | None | 0 | None | 0 | 0 | 0 |
| V/G | rs770360579 |
-2.899 | 1.0 | D | 0.853 | 0.633 | 0.878771411214 | gnomAD-4.0.0 | 1.59723E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.79236E-05 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | rs1274174149 |
None | 0.997 | N | 0.521 | 0.246 | 0.392547445146 | 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/I | rs1274174149 |
None | 0.997 | N | 0.521 | 0.246 | 0.392547445146 | gnomAD-4.0.0 | 6.57635E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47037E-05 | 0 | 0 |
| V/L | None | None | 0.997 | N | 0.573 | 0.301 | 0.31077124679 | gnomAD-4.0.0 | 6.85255E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00335E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.3274 | likely_benign | 0.3446 | ambiguous | -1.904 | Destabilizing | 0.999 | D | 0.553 | neutral | N | 0.493324067 | None | None | N |
| V/C | 0.8198 | likely_pathogenic | 0.8278 | pathogenic | -1.483 | Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| V/D | 0.9385 | likely_pathogenic | 0.9352 | pathogenic | -1.943 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| V/E | 0.8677 | likely_pathogenic | 0.8648 | pathogenic | -1.859 | Destabilizing | 1.0 | D | 0.854 | deleterious | D | 0.526977634 | None | None | N |
| V/F | 0.2875 | likely_benign | 0.3171 | benign | -1.269 | Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| V/G | 0.4783 | ambiguous | 0.4638 | ambiguous | -2.33 | Highly Destabilizing | 1.0 | D | 0.853 | deleterious | D | 0.526977634 | None | None | N |
| V/H | 0.9437 | likely_pathogenic | 0.9396 | pathogenic | -1.848 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| V/I | 0.0878 | likely_benign | 0.0914 | benign | -0.789 | Destabilizing | 0.997 | D | 0.521 | neutral | N | 0.465824333 | None | None | N |
| V/K | 0.8969 | likely_pathogenic | 0.8921 | pathogenic | -1.743 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| V/L | 0.2897 | likely_benign | 0.3044 | benign | -0.789 | Destabilizing | 0.997 | D | 0.573 | neutral | N | 0.468404773 | None | None | N |
| V/M | 0.2939 | likely_benign | 0.3022 | benign | -0.691 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| V/N | 0.8596 | likely_pathogenic | 0.8521 | pathogenic | -1.678 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| V/P | 0.9354 | likely_pathogenic | 0.9405 | pathogenic | -1.127 | Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| V/Q | 0.839 | likely_pathogenic | 0.8294 | pathogenic | -1.735 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| V/R | 0.8591 | likely_pathogenic | 0.8555 | pathogenic | -1.268 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| V/S | 0.6363 | likely_pathogenic | 0.6306 | pathogenic | -2.279 | Highly Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| V/T | 0.5132 | ambiguous | 0.5044 | ambiguous | -2.064 | Highly Destabilizing | 0.999 | D | 0.575 | neutral | None | None | None | None | N |
| V/W | 0.9375 | likely_pathogenic | 0.9385 | pathogenic | -1.546 | Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| V/Y | 0.8142 | likely_pathogenic | 0.8244 | pathogenic | -1.257 | Destabilizing | 1.0 | D | 0.862 | 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.