Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35684 | 107275;107276;107277 | chr2:178528701;178528700;178528699 | chr2:179393428;179393427;179393426 |
| N2AB | 34043 | 102352;102353;102354 | chr2:178528701;178528700;178528699 | chr2:179393428;179393427;179393426 |
| N2A | 33116 | 99571;99572;99573 | chr2:178528701;178528700;178528699 | chr2:179393428;179393427;179393426 |
| N2B | 26619 | 80080;80081;80082 | chr2:178528701;178528700;178528699 | chr2:179393428;179393427;179393426 |
| Novex-1 | 26744 | 80455;80456;80457 | chr2:178528701;178528700;178528699 | chr2:179393428;179393427;179393426 |
| Novex-2 | 26811 | 80656;80657;80658 | chr2:178528701;178528700;178528699 | chr2:179393428;179393427;179393426 |
| 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 | None | None | 0.884 | N | 0.463 | 0.497 | 0.454426139905 | gnomAD-4.0.0 | 1.59186E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85871E-06 | 0 | 0 |
| G/R | rs761040950  |
-0.283 | 0.999 | N | 0.807 | 0.605 | 0.59105502098 | gnomAD-2.1.1 | 2.02E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 1.64042E-04 | None | 0 | 0 | 0 |
| G/R | rs761040950 |
-0.283 | 0.999 | N | 0.807 | 0.605 | 0.59105502098 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 4.13565E-04 | 0 |
| G/R | rs761040950 |
-0.283 | 0.999 | N | 0.807 | 0.605 | 0.59105502098 | gnomAD-4.0.0 | 1.05364E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.47642E-07 | 1.75805E-04 | 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 | 0.5492 | ambiguous | 0.4785 | ambiguous | -0.417 | Destabilizing | 0.884 | D | 0.325 | neutral | N | 0.512136021 | None | None | I |
| G/C | 0.8672 | likely_pathogenic | 0.8319 | pathogenic | -0.842 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | I |
| G/D | 0.6607 | likely_pathogenic | 0.6228 | pathogenic | -0.554 | Destabilizing | 0.998 | D | 0.801 | deleterious | None | None | None | None | I |
| G/E | 0.7084 | likely_pathogenic | 0.6637 | pathogenic | -0.678 | Destabilizing | 0.884 | D | 0.463 | neutral | N | 0.491509284 | None | None | I |
| G/F | 0.9612 | likely_pathogenic | 0.9521 | pathogenic | -0.943 | Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | I |
| G/H | 0.9287 | likely_pathogenic | 0.9053 | pathogenic | -0.889 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | I |
| G/I | 0.8874 | likely_pathogenic | 0.8549 | pathogenic | -0.321 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | I |
| G/K | 0.8794 | likely_pathogenic | 0.8533 | pathogenic | -1.013 | Destabilizing | 0.999 | D | 0.803 | deleterious | None | None | None | None | I |
| G/L | 0.9452 | likely_pathogenic | 0.9283 | pathogenic | -0.321 | Destabilizing | 0.999 | D | 0.789 | deleterious | None | None | None | None | I |
| G/M | 0.9376 | likely_pathogenic | 0.9191 | pathogenic | -0.334 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | I |
| G/N | 0.7486 | likely_pathogenic | 0.7035 | pathogenic | -0.62 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | I |
| G/P | 0.9932 | likely_pathogenic | 0.9915 | pathogenic | -0.314 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | I |
| G/Q | 0.8586 | likely_pathogenic | 0.8243 | pathogenic | -0.85 | Destabilizing | 0.999 | D | 0.805 | deleterious | None | None | None | None | I |
| G/R | 0.8302 | likely_pathogenic | 0.7891 | pathogenic | -0.658 | Destabilizing | 0.999 | D | 0.807 | deleterious | N | 0.512258176 | None | None | I |
| G/S | 0.4279 | ambiguous | 0.3675 | ambiguous | -0.837 | Destabilizing | 0.994 | D | 0.659 | neutral | None | None | None | None | I |
| G/T | 0.7298 | likely_pathogenic | 0.6541 | pathogenic | -0.883 | Destabilizing | 0.999 | D | 0.797 | deleterious | None | None | None | None | I |
| G/V | 0.8123 | likely_pathogenic | 0.7653 | pathogenic | -0.314 | Destabilizing | 0.999 | D | 0.787 | deleterious | N | 0.512624643 | None | None | I |
| G/W | 0.9182 | likely_pathogenic | 0.9055 | pathogenic | -1.193 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | I |
| G/Y | 0.9139 | likely_pathogenic | 0.893 | pathogenic | -0.81 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | I |
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.