Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21723 | 65392;65393;65394 | chr2:178584384;178584383;178584382 | chr2:179449111;179449110;179449109 |
| N2AB | 20082 | 60469;60470;60471 | chr2:178584384;178584383;178584382 | chr2:179449111;179449110;179449109 |
| N2A | 19155 | 57688;57689;57690 | chr2:178584384;178584383;178584382 | chr2:179449111;179449110;179449109 |
| N2B | 12658 | 38197;38198;38199 | chr2:178584384;178584383;178584382 | chr2:179449111;179449110;179449109 |
| Novex-1 | 12783 | 38572;38573;38574 | chr2:178584384;178584383;178584382 | chr2:179449111;179449110;179449109 |
| Novex-2 | 12850 | 38773;38774;38775 | chr2:178584384;178584383;178584382 | chr2:179449111;179449110;179449109 |
| 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 | rs371802736  |
-0.283 | 0.997 | N | 0.765 | 0.405 | None | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| G/D | rs371802736 |
-0.283 | 0.997 | N | 0.765 | 0.405 | None | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 9.56938E-04 |
| G/D | rs371802736 |
-0.283 | 0.997 | N | 0.765 | 0.405 | None | gnomAD-4.0.0 | 6.19899E-06 | None | None | None | None | N | None | 0 | 1.66744E-05 | None | 0 | 0 | None | 0 | 3.29056E-04 | 4.23913E-06 | 0 | 3.20338E-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 | 0.3412 | ambiguous | 0.2509 | benign | -0.291 | Destabilizing | 0.995 | D | 0.635 | neutral | N | 0.512650766 | None | None | N |
| G/C | 0.4943 | ambiguous | 0.3786 | ambiguous | -0.831 | Destabilizing | 1.0 | D | 0.741 | deleterious | D | 0.536630825 | None | None | N |
| G/D | 0.4985 | ambiguous | 0.3335 | benign | -0.686 | Destabilizing | 0.997 | D | 0.765 | deleterious | N | 0.519233737 | None | None | N |
| G/E | 0.6075 | likely_pathogenic | 0.4354 | ambiguous | -0.843 | Destabilizing | 0.999 | D | 0.749 | deleterious | None | None | None | None | N |
| G/F | 0.8704 | likely_pathogenic | 0.7897 | pathogenic | -1.008 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| G/H | 0.7028 | likely_pathogenic | 0.5509 | ambiguous | -0.59 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| G/I | 0.8138 | likely_pathogenic | 0.684 | pathogenic | -0.389 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| G/K | 0.8443 | likely_pathogenic | 0.6923 | pathogenic | -0.899 | Destabilizing | 0.999 | D | 0.747 | deleterious | None | None | None | None | N |
| G/L | 0.8041 | likely_pathogenic | 0.6947 | pathogenic | -0.389 | Destabilizing | 0.999 | D | 0.781 | deleterious | None | None | None | None | N |
| G/M | 0.8004 | likely_pathogenic | 0.6973 | pathogenic | -0.449 | Destabilizing | 1.0 | D | 0.718 | prob.delet. | None | None | None | None | N |
| G/N | 0.4203 | ambiguous | 0.3218 | benign | -0.489 | Destabilizing | 0.669 | D | 0.505 | neutral | None | None | None | None | N |
| G/P | 0.9578 | likely_pathogenic | 0.9055 | pathogenic | -0.323 | Destabilizing | 1.0 | D | 0.772 | deleterious | None | None | None | None | N |
| G/Q | 0.6564 | likely_pathogenic | 0.506 | ambiguous | -0.773 | Destabilizing | 1.0 | D | 0.772 | deleterious | None | None | None | None | N |
| G/R | 0.7361 | likely_pathogenic | 0.5544 | ambiguous | -0.443 | Destabilizing | 0.999 | D | 0.765 | deleterious | N | 0.485583289 | None | None | N |
| G/S | 0.1917 | likely_benign | 0.151 | benign | -0.619 | Destabilizing | 0.997 | D | 0.724 | prob.delet. | D | 0.529202802 | None | None | N |
| G/T | 0.4443 | ambiguous | 0.3268 | benign | -0.706 | Destabilizing | 0.999 | D | 0.749 | deleterious | None | None | None | None | N |
| G/V | 0.6732 | likely_pathogenic | 0.5224 | ambiguous | -0.323 | Destabilizing | 0.999 | D | 0.783 | deleterious | D | 0.536123845 | None | None | N |
| G/W | 0.8013 | likely_pathogenic | 0.6919 | pathogenic | -1.185 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | N |
| G/Y | 0.79 | likely_pathogenic | 0.6753 | pathogenic | -0.829 | Destabilizing | 1.0 | D | 0.789 | 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.