Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23141 | 69646;69647;69648 | chr2:178576823;178576822;178576821 | chr2:179441550;179441549;179441548 |
| N2AB | 21500 | 64723;64724;64725 | chr2:178576823;178576822;178576821 | chr2:179441550;179441549;179441548 |
| N2A | 20573 | 61942;61943;61944 | chr2:178576823;178576822;178576821 | chr2:179441550;179441549;179441548 |
| N2B | 14076 | 42451;42452;42453 | chr2:178576823;178576822;178576821 | chr2:179441550;179441549;179441548 |
| Novex-1 | 14201 | 42826;42827;42828 | chr2:178576823;178576822;178576821 | chr2:179441550;179441549;179441548 |
| Novex-2 | 14268 | 43027;43028;43029 | chr2:178576823;178576822;178576821 | chr2:179441550;179441549;179441548 |
| 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/A | None | None | 0.991 | N | 0.658 | 0.441 | 0.233785782151 | gnomAD-4.0.0 | 6.8747E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.18728E-05 | 0 |
| G/C | None | None | 1.0 | D | 0.82 | 0.366 | 0.755533225587 | gnomAD-4.0.0 | 1.37462E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.80154E-06 | 0 | 0 |
| G/D | None | None | 0.45 | N | 0.549 | 0.355 | 0.202086224978 | gnomAD-4.0.0 | 6.8747E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00841E-07 | 0 | 0 |
| G/R | rs1291311240  |
None | 0.999 | N | 0.867 | 0.403 | 0.648632380062 | gnomAD-4.0.0 | 3.43654E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.60308E-06 | 0 | 1.66456E-05 |
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 | 0.2668 | likely_benign | 0.3023 | benign | -0.822 | Destabilizing | 0.991 | D | 0.658 | neutral | N | 0.498663298 | None | None | N |
| G/C | 0.4424 | ambiguous | 0.4905 | ambiguous | -1.24 | Destabilizing | 1.0 | D | 0.82 | deleterious | D | 0.534506641 | None | None | N |
| G/D | 0.5961 | likely_pathogenic | 0.6506 | pathogenic | -2.131 | Highly Destabilizing | 0.45 | N | 0.549 | neutral | N | 0.473731734 | None | None | N |
| G/E | 0.6734 | likely_pathogenic | 0.7419 | pathogenic | -2.163 | Highly Destabilizing | 0.996 | D | 0.815 | deleterious | None | None | None | None | N |
| G/F | 0.8505 | likely_pathogenic | 0.8742 | pathogenic | -1.149 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| G/H | 0.7798 | likely_pathogenic | 0.8305 | pathogenic | -1.411 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| G/I | 0.8131 | likely_pathogenic | 0.8579 | pathogenic | -0.405 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| G/K | 0.8144 | likely_pathogenic | 0.8655 | pathogenic | -1.343 | Destabilizing | 0.998 | D | 0.843 | deleterious | None | None | None | None | N |
| G/L | 0.7002 | likely_pathogenic | 0.7397 | pathogenic | -0.405 | Destabilizing | 0.999 | D | 0.882 | deleterious | None | None | None | None | N |
| G/M | 0.8044 | likely_pathogenic | 0.8357 | pathogenic | -0.428 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| G/N | 0.6605 | likely_pathogenic | 0.6958 | pathogenic | -1.203 | Destabilizing | 0.996 | D | 0.751 | deleterious | None | None | None | None | N |
| G/P | 0.9862 | likely_pathogenic | 0.9891 | pathogenic | -0.505 | Destabilizing | 0.999 | D | 0.871 | deleterious | None | None | None | None | N |
| G/Q | 0.7278 | likely_pathogenic | 0.777 | pathogenic | -1.414 | Destabilizing | 0.999 | D | 0.866 | deleterious | None | None | None | None | N |
| G/R | 0.7361 | likely_pathogenic | 0.8076 | pathogenic | -1.037 | Destabilizing | 0.999 | D | 0.867 | deleterious | N | 0.499170277 | None | None | N |
| G/S | 0.1678 | likely_benign | 0.1832 | benign | -1.367 | Destabilizing | 0.997 | D | 0.713 | prob.delet. | N | 0.469689128 | None | None | N |
| G/T | 0.485 | ambiguous | 0.5258 | ambiguous | -1.338 | Destabilizing | 0.998 | D | 0.847 | deleterious | None | None | None | None | N |
| G/V | 0.7062 | likely_pathogenic | 0.7655 | pathogenic | -0.505 | Destabilizing | 0.999 | D | 0.881 | deleterious | D | 0.522896846 | None | None | N |
| G/W | 0.7938 | likely_pathogenic | 0.8393 | pathogenic | -1.547 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | N |
| G/Y | 0.7632 | likely_pathogenic | 0.8107 | pathogenic | -1.127 | Destabilizing | 1.0 | D | 0.859 | 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.