Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31922 | 95989;95990;95991 | chr2:178544465;178544464;178544463 | chr2:179409192;179409191;179409190 |
| N2AB | 30281 | 91066;91067;91068 | chr2:178544465;178544464;178544463 | chr2:179409192;179409191;179409190 |
| N2A | 29354 | 88285;88286;88287 | chr2:178544465;178544464;178544463 | chr2:179409192;179409191;179409190 |
| N2B | 22857 | 68794;68795;68796 | chr2:178544465;178544464;178544463 | chr2:179409192;179409191;179409190 |
| Novex-1 | 22982 | 69169;69170;69171 | chr2:178544465;178544464;178544463 | chr2:179409192;179409191;179409190 |
| Novex-2 | 23049 | 69370;69371;69372 | chr2:178544465;178544464;178544463 | chr2:179409192;179409191;179409190 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | rs773198280  |
-0.776 | 0.999 | N | 0.507 | 0.4 | 0.353336612579 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| T/A | rs773198280 |
-0.776 | 0.999 | N | 0.507 | 0.4 | 0.353336612579 | 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 |
| T/A | rs773198280 |
-0.776 | 0.999 | N | 0.507 | 0.4 | 0.353336612579 | gnomAD-4.0.0 | 2.56923E-06 | None | None | None | None | N | None | 1.69273E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.40365E-06 | 0 | 0 |
| T/S | rs769771566 |
-1.131 | 0.999 | N | 0.531 | 0.299 | 0.317084106153 | gnomAD-2.1.1 | 1.07E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.35E-05 | 0 |
| T/S | rs769771566 |
-1.131 | 0.999 | N | 0.531 | 0.299 | 0.317084106153 | 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 |
| T/S | rs769771566 |
-1.131 | 0.999 | N | 0.531 | 0.299 | 0.317084106153 | gnomAD-4.0.0 | 5.13805E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.61298E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.2142 | likely_benign | 0.199 | benign | -0.677 | Destabilizing | 0.999 | D | 0.507 | neutral | N | 0.473805229 | None | None | N |
| T/C | 0.6625 | likely_pathogenic | 0.6823 | pathogenic | -0.575 | Destabilizing | 1.0 | D | 0.694 | prob.neutral | None | None | None | None | N |
| T/D | 0.5469 | ambiguous | 0.5591 | ambiguous | -1.375 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | N |
| T/E | 0.6979 | likely_pathogenic | 0.6666 | pathogenic | -1.334 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| T/F | 0.7543 | likely_pathogenic | 0.7317 | pathogenic | -0.683 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | N |
| T/G | 0.2424 | likely_benign | 0.242 | benign | -0.976 | Destabilizing | 1.0 | D | 0.764 | deleterious | None | None | None | None | N |
| T/H | 0.4762 | ambiguous | 0.4521 | ambiguous | -1.382 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | N |
| T/I | 0.8689 | likely_pathogenic | 0.8511 | pathogenic | 0.041 | Stabilizing | 1.0 | D | 0.797 | deleterious | N | 0.49910196 | None | None | N |
| T/K | 0.5303 | ambiguous | 0.4828 | ambiguous | -0.925 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| T/L | 0.4338 | ambiguous | 0.4044 | ambiguous | 0.041 | Stabilizing | 0.999 | D | 0.709 | prob.delet. | None | None | None | None | N |
| T/M | 0.3144 | likely_benign | 0.2887 | benign | 0.397 | Stabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | N |
| T/N | 0.2251 | likely_benign | 0.2385 | benign | -1.16 | Destabilizing | 1.0 | D | 0.783 | deleterious | N | 0.472422423 | None | None | N |
| T/P | 0.8306 | likely_pathogenic | 0.7898 | pathogenic | -0.165 | Destabilizing | 1.0 | D | 0.776 | deleterious | N | 0.490214417 | None | None | N |
| T/Q | 0.4787 | ambiguous | 0.4451 | ambiguous | -1.296 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | N |
| T/R | 0.4697 | ambiguous | 0.3988 | ambiguous | -0.723 | Destabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | N |
| T/S | 0.107 | likely_benign | 0.1152 | benign | -1.231 | Destabilizing | 0.999 | D | 0.531 | neutral | N | 0.476192249 | None | None | N |
| T/V | 0.6612 | likely_pathogenic | 0.6389 | pathogenic | -0.165 | Destabilizing | 0.999 | D | 0.604 | neutral | None | None | None | None | N |
| T/W | 0.9109 | likely_pathogenic | 0.8905 | pathogenic | -0.756 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | N |
| T/Y | 0.747 | likely_pathogenic | 0.72 | pathogenic | -0.454 | Destabilizing | 1.0 | D | 0.781 | 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.