Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17190 | 51793;51794;51795 | chr2:178609855;178609854;178609853 | chr2:179474582;179474581;179474580 |
| N2AB | 15549 | 46870;46871;46872 | chr2:178609855;178609854;178609853 | chr2:179474582;179474581;179474580 |
| N2A | 14622 | 44089;44090;44091 | chr2:178609855;178609854;178609853 | chr2:179474582;179474581;179474580 |
| N2B | 8125 | 24598;24599;24600 | chr2:178609855;178609854;178609853 | chr2:179474582;179474581;179474580 |
| Novex-1 | 8250 | 24973;24974;24975 | chr2:178609855;178609854;178609853 | chr2:179474582;179474581;179474580 |
| Novex-2 | 8317 | 25174;25175;25176 | chr2:178609855;178609854;178609853 | chr2:179474582;179474581;179474580 |
| 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/D | None | None | 0.898 | N | 0.525 | 0.243 | 0.294918367191 | gnomAD-4.0.0 | 6.84462E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99785E-07 | 0 | 0 |
| G/V | None | None | 1.0 | N | 0.775 | 0.38 | 0.475272412942 | gnomAD-4.0.0 | 1.36892E-06 | None | None | None | None | N | None | 5.98516E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 | 0.3375 | likely_benign | 0.3134 | benign | -0.331 | Destabilizing | 1.0 | D | 0.547 | neutral | N | 0.482830903 | None | None | N |
| G/C | 0.5229 | ambiguous | 0.4775 | ambiguous | -0.981 | Destabilizing | 1.0 | D | 0.762 | deleterious | D | 0.523345054 | None | None | N |
| G/D | 0.1924 | likely_benign | 0.1727 | benign | -0.85 | Destabilizing | 0.898 | D | 0.525 | neutral | N | 0.475498816 | None | None | N |
| G/E | 0.3231 | likely_benign | 0.2848 | benign | -1.006 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | N |
| G/F | 0.8507 | likely_pathogenic | 0.8158 | pathogenic | -1.079 | Destabilizing | 1.0 | D | 0.766 | deleterious | None | None | None | None | N |
| G/H | 0.6251 | likely_pathogenic | 0.596 | pathogenic | -0.424 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | N |
| G/I | 0.7037 | likely_pathogenic | 0.6495 | pathogenic | -0.557 | Destabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | N |
| G/K | 0.7244 | likely_pathogenic | 0.6911 | pathogenic | -0.891 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| G/L | 0.7694 | likely_pathogenic | 0.7337 | pathogenic | -0.557 | Destabilizing | 1.0 | D | 0.77 | deleterious | None | None | None | None | N |
| G/M | 0.7527 | likely_pathogenic | 0.7175 | pathogenic | -0.752 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| G/N | 0.2601 | likely_benign | 0.2458 | benign | -0.544 | Destabilizing | 1.0 | D | 0.623 | neutral | None | None | None | None | N |
| G/P | 0.9403 | likely_pathogenic | 0.9257 | pathogenic | -0.456 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| G/Q | 0.575 | likely_pathogenic | 0.5463 | ambiguous | -0.826 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| G/R | 0.6711 | likely_pathogenic | 0.6319 | pathogenic | -0.419 | Destabilizing | 1.0 | D | 0.744 | deleterious | N | 0.490121831 | None | None | N |
| G/S | 0.1731 | likely_benign | 0.1678 | benign | -0.644 | Destabilizing | 1.0 | D | 0.607 | neutral | N | 0.47085226 | None | None | N |
| G/T | 0.3076 | likely_benign | 0.295 | benign | -0.742 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| G/V | 0.5316 | ambiguous | 0.4779 | ambiguous | -0.456 | Destabilizing | 1.0 | D | 0.775 | deleterious | N | 0.488097595 | None | None | N |
| G/W | 0.73 | likely_pathogenic | 0.6751 | pathogenic | -1.191 | Destabilizing | 1.0 | D | 0.744 | deleterious | None | None | None | None | N |
| G/Y | 0.7056 | likely_pathogenic | 0.6496 | pathogenic | -0.889 | Destabilizing | 1.0 | D | 0.747 | 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.