Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27077 | 81454;81455;81456 | chr2:178564903;178564902;178564901 | chr2:179429630;179429629;179429628 |
| N2AB | 25436 | 76531;76532;76533 | chr2:178564903;178564902;178564901 | chr2:179429630;179429629;179429628 |
| N2A | 24509 | 73750;73751;73752 | chr2:178564903;178564902;178564901 | chr2:179429630;179429629;179429628 |
| N2B | 18012 | 54259;54260;54261 | chr2:178564903;178564902;178564901 | chr2:179429630;179429629;179429628 |
| Novex-1 | 18137 | 54634;54635;54636 | chr2:178564903;178564902;178564901 | chr2:179429630;179429629;179429628 |
| Novex-2 | 18204 | 54835;54836;54837 | chr2:178564903;178564902;178564901 | chr2:179429630;179429629;179429628 |
| 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/E | rs866460539  |
-1.595 | 1.0 | N | 0.793 | 0.456 | 0.443592365053 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| G/E | rs866460539 |
-1.595 | 1.0 | N | 0.793 | 0.456 | 0.443592365053 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/E | rs866460539 |
-1.595 | 1.0 | N | 0.793 | 0.456 | 0.443592365053 | gnomAD-4.0.0 | 2.03002E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.40991E-06 | 0 | 0 |
| G/R | rs878898668 |
-1.013 | 1.0 | N | 0.779 | 0.503 | 0.617691798299 | gnomAD-2.1.1 | 1.62E-05 | None | None | None | None | N | None | 1.94099E-04 | 2.92E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/R | rs878898668 |
-1.013 | 1.0 | N | 0.779 | 0.503 | 0.617691798299 | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 9.65E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/R | rs878898668 |
-1.013 | 1.0 | N | 0.779 | 0.503 | 0.617691798299 | gnomAD-4.0.0 | 1.41165E-05 | None | None | None | None | N | None | 1.35598E-04 | 1.69993E-05 | None | 0 | 0 | None | 0 | 0 | 4.79136E-06 | 0 | 0 |
| G/V | None | None | 1.0 | N | 0.799 | 0.498 | 0.591405023974 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.75482E-04 | 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 | 0.3938 | ambiguous | 0.3237 | benign | -0.788 | Destabilizing | 1.0 | D | 0.616 | neutral | N | 0.484459837 | None | None | N |
| G/C | 0.6956 | likely_pathogenic | 0.617 | pathogenic | -0.951 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| G/D | 0.9149 | likely_pathogenic | 0.8775 | pathogenic | -2.198 | Highly Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| G/E | 0.92 | likely_pathogenic | 0.8815 | pathogenic | -2.147 | Highly Destabilizing | 1.0 | D | 0.793 | deleterious | N | 0.474024903 | None | None | N |
| G/F | 0.9714 | likely_pathogenic | 0.9537 | pathogenic | -0.854 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| G/H | 0.9526 | likely_pathogenic | 0.9309 | pathogenic | -1.868 | Destabilizing | 1.0 | D | 0.766 | deleterious | None | None | None | None | N |
| G/I | 0.9406 | likely_pathogenic | 0.9009 | pathogenic | -0.059 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| G/K | 0.9661 | likely_pathogenic | 0.9464 | pathogenic | -1.441 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| G/L | 0.9249 | likely_pathogenic | 0.8841 | pathogenic | -0.059 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| G/M | 0.934 | likely_pathogenic | 0.8973 | pathogenic | -0.067 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| G/N | 0.8749 | likely_pathogenic | 0.8276 | pathogenic | -1.327 | Destabilizing | 1.0 | D | 0.655 | neutral | None | None | None | None | N |
| G/P | 0.9847 | likely_pathogenic | 0.9786 | pathogenic | -0.26 | Destabilizing | 1.0 | D | 0.772 | deleterious | None | None | None | None | N |
| G/Q | 0.9117 | likely_pathogenic | 0.8705 | pathogenic | -1.346 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| G/R | 0.9206 | likely_pathogenic | 0.8798 | pathogenic | -1.333 | Destabilizing | 1.0 | D | 0.779 | deleterious | N | 0.505878547 | None | None | N |
| G/S | 0.2362 | likely_benign | 0.2052 | benign | -1.523 | Destabilizing | 1.0 | D | 0.658 | neutral | None | None | None | None | N |
| G/T | 0.648 | likely_pathogenic | 0.554 | ambiguous | -1.399 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| G/V | 0.8527 | likely_pathogenic | 0.7802 | pathogenic | -0.26 | Destabilizing | 1.0 | D | 0.799 | deleterious | N | 0.50357805 | None | None | N |
| G/W | 0.9566 | likely_pathogenic | 0.9354 | pathogenic | -1.55 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| G/Y | 0.9507 | likely_pathogenic | 0.9244 | pathogenic | -1.049 | Destabilizing | 1.0 | D | 0.782 | 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.