Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18308 | 55147;55148;55149 | chr2:178602480;178602479;178602478 | chr2:179467207;179467206;179467205 |
| N2AB | 16667 | 50224;50225;50226 | chr2:178602480;178602479;178602478 | chr2:179467207;179467206;179467205 |
| N2A | 15740 | 47443;47444;47445 | chr2:178602480;178602479;178602478 | chr2:179467207;179467206;179467205 |
| N2B | 9243 | 27952;27953;27954 | chr2:178602480;178602479;178602478 | chr2:179467207;179467206;179467205 |
| Novex-1 | 9368 | 28327;28328;28329 | chr2:178602480;178602479;178602478 | chr2:179467207;179467206;179467205 |
| Novex-2 | 9435 | 28528;28529;28530 | chr2:178602480;178602479;178602478 | chr2:179467207;179467206;179467205 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/N | rs369024446  |
-2.93 | 0.999 | N | 0.831 | 0.464 | 0.758643912819 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.95E-06 | 0 |
| I/N | rs369024446 |
-2.93 | 0.999 | N | 0.831 | 0.464 | 0.758643912819 | gnomAD-4.0.0 | 6.84942E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00075E-07 | 0 | 0 |
| I/S | rs369024446 |
-3.493 | 0.998 | N | 0.752 | 0.455 | None | gnomAD-2.1.1 | 8.09E-06 | None | None | None | None | N | None | 0 | 2.92E-05 | None | 0 | 0 | None | 0 | None | 0 | 8.95E-06 | 0 |
| I/S | rs369024446 |
-3.493 | 0.998 | N | 0.752 | 0.455 | None | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| I/S | rs369024446 |
-3.493 | 0.998 | N | 0.752 | 0.455 | None | gnomAD-4.0.0 | 1.17879E-05 | None | None | None | None | N | None | 0 | 1.67224E-05 | None | 0 | 0 | None | 0 | 0 | 1.5268E-05 | 0 | 0 |
| I/T | None | None | 0.994 | N | 0.746 | 0.437 | 0.709987916888 | gnomAD-4.0.0 | 6.84942E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00075E-07 | 0 | 0 |
| I/V | None | None | 0.889 | N | 0.453 | 0.156 | 0.47409059586 | gnomAD-4.0.0 | 4.8013E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.25002E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.3816 | ambiguous | 0.363 | ambiguous | -2.781 | Highly Destabilizing | 0.992 | D | 0.713 | prob.delet. | None | None | None | None | N |
| I/C | 0.6828 | likely_pathogenic | 0.6815 | pathogenic | -2.015 | Highly Destabilizing | 1.0 | D | 0.748 | deleterious | None | None | None | None | N |
| I/D | 0.8762 | likely_pathogenic | 0.884 | pathogenic | -3.265 | Highly Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| I/E | 0.7227 | likely_pathogenic | 0.7521 | pathogenic | -3.082 | Highly Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| I/F | 0.1832 | likely_benign | 0.1641 | benign | -1.668 | Destabilizing | 0.998 | D | 0.717 | prob.delet. | N | 0.509822033 | None | None | N |
| I/G | 0.8248 | likely_pathogenic | 0.8278 | pathogenic | -3.259 | Highly Destabilizing | 0.999 | D | 0.811 | deleterious | None | None | None | None | N |
| I/H | 0.5598 | ambiguous | 0.546 | ambiguous | -2.613 | Highly Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| I/K | 0.5527 | ambiguous | 0.589 | pathogenic | -2.342 | Highly Destabilizing | 0.999 | D | 0.814 | deleterious | None | None | None | None | N |
| I/L | 0.1347 | likely_benign | 0.1166 | benign | -1.406 | Destabilizing | 0.889 | D | 0.472 | neutral | N | 0.49063884 | None | None | N |
| I/M | 0.1196 | likely_benign | 0.1191 | benign | -1.322 | Destabilizing | 0.889 | D | 0.5 | neutral | N | 0.479762576 | None | None | N |
| I/N | 0.5369 | ambiguous | 0.5619 | ambiguous | -2.581 | Highly Destabilizing | 0.999 | D | 0.831 | deleterious | N | 0.520729673 | None | None | N |
| I/P | 0.9842 | likely_pathogenic | 0.977 | pathogenic | -1.847 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| I/Q | 0.6052 | likely_pathogenic | 0.6247 | pathogenic | -2.532 | Highly Destabilizing | 0.999 | D | 0.835 | deleterious | None | None | None | None | N |
| I/R | 0.4136 | ambiguous | 0.4261 | ambiguous | -1.839 | Destabilizing | 0.999 | D | 0.817 | deleterious | None | None | None | None | N |
| I/S | 0.416 | ambiguous | 0.4081 | ambiguous | -3.186 | Highly Destabilizing | 0.998 | D | 0.752 | deleterious | N | 0.507203015 | None | None | N |
| I/T | 0.1931 | likely_benign | 0.1692 | benign | -2.888 | Highly Destabilizing | 0.994 | D | 0.746 | deleterious | N | 0.495948659 | None | None | N |
| I/V | 0.0798 | likely_benign | 0.0789 | benign | -1.847 | Destabilizing | 0.889 | D | 0.453 | neutral | N | 0.432804044 | None | None | N |
| I/W | 0.7388 | likely_pathogenic | 0.6538 | pathogenic | -2.047 | Highly Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | N |
| I/Y | 0.5779 | likely_pathogenic | 0.5099 | ambiguous | -1.831 | Destabilizing | 1.0 | D | 0.783 | 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.