Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34415 | 103468;103469;103470 | chr2:178533372;178533371;178533370 | chr2:179398099;179398098;179398097 |
| N2AB | 32774 | 98545;98546;98547 | chr2:178533372;178533371;178533370 | chr2:179398099;179398098;179398097 |
| N2A | 31847 | 95764;95765;95766 | chr2:178533372;178533371;178533370 | chr2:179398099;179398098;179398097 |
| N2B | 25350 | 76273;76274;76275 | chr2:178533372;178533371;178533370 | chr2:179398099;179398098;179398097 |
| Novex-1 | 25475 | 76648;76649;76650 | chr2:178533372;178533371;178533370 | chr2:179398099;179398098;179398097 |
| Novex-2 | 25542 | 76849;76850;76851 | chr2:178533372;178533371;178533370 | chr2:179398099;179398098;179398097 |
| 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 | rs919270464  |
-0.839 | 0.275 | N | 0.32 | 0.406 | 0.413635276047 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 1.14811E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/D | rs919270464 |
-0.839 | 0.275 | N | 0.32 | 0.406 | 0.413635276047 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/D | rs919270464 |
-0.839 | 0.275 | N | 0.32 | 0.406 | 0.413635276047 | gnomAD-4.0.0 | 6.57436E-06 | None | None | None | None | N | None | 2.41534E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | rs1170678153 |
-0.678 | 0.999 | N | 0.664 | 0.757 | 0.786541166568 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.87E-06 | 0 |
| G/R | rs1170678153 |
-0.678 | 0.999 | N | 0.664 | 0.757 | 0.786541166568 | gnomAD-4.0.0 | 1.59181E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85775E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.7 | likely_pathogenic | 0.5933 | pathogenic | -0.293 | Destabilizing | 0.984 | D | 0.415 | neutral | D | 0.542111463 | None | None | N |
| G/C | 0.8947 | likely_pathogenic | 0.8333 | pathogenic | -0.648 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | D | 0.590449644 | None | None | N |
| G/D | 0.7526 | likely_pathogenic | 0.6775 | pathogenic | -0.859 | Destabilizing | 0.275 | N | 0.32 | neutral | N | 0.473558241 | None | None | N |
| G/E | 0.8683 | likely_pathogenic | 0.7994 | pathogenic | -0.995 | Destabilizing | 0.996 | D | 0.552 | neutral | None | None | None | None | N |
| G/F | 0.9807 | likely_pathogenic | 0.9663 | pathogenic | -0.943 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | N |
| G/H | 0.9691 | likely_pathogenic | 0.9437 | pathogenic | -0.619 | Destabilizing | 1.0 | D | 0.673 | neutral | None | None | None | None | N |
| G/I | 0.9612 | likely_pathogenic | 0.9309 | pathogenic | -0.333 | Destabilizing | 0.999 | D | 0.703 | prob.neutral | None | None | None | None | N |
| G/K | 0.9679 | likely_pathogenic | 0.9524 | pathogenic | -0.928 | Destabilizing | 0.998 | D | 0.619 | neutral | None | None | None | None | N |
| G/L | 0.9719 | likely_pathogenic | 0.9505 | pathogenic | -0.333 | Destabilizing | 0.998 | D | 0.654 | neutral | None | None | None | None | N |
| G/M | 0.9762 | likely_pathogenic | 0.9565 | pathogenic | -0.44 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | None | None | None | None | N |
| G/N | 0.8263 | likely_pathogenic | 0.7477 | pathogenic | -0.479 | Destabilizing | 0.998 | D | 0.628 | neutral | None | None | None | None | N |
| G/P | 0.9904 | likely_pathogenic | 0.9839 | pathogenic | -0.286 | Destabilizing | 0.999 | D | 0.627 | neutral | None | None | None | None | N |
| G/Q | 0.9524 | likely_pathogenic | 0.9225 | pathogenic | -0.751 | Destabilizing | 0.999 | D | 0.661 | neutral | None | None | None | None | N |
| G/R | 0.9565 | likely_pathogenic | 0.9291 | pathogenic | -0.47 | Destabilizing | 0.999 | D | 0.664 | neutral | N | 0.503344463 | None | None | N |
| G/S | 0.5346 | ambiguous | 0.4027 | ambiguous | -0.567 | Destabilizing | 0.79 | D | 0.297 | neutral | N | 0.508478892 | None | None | N |
| G/T | 0.8456 | likely_pathogenic | 0.7663 | pathogenic | -0.643 | Destabilizing | 0.996 | D | 0.599 | neutral | None | None | None | None | N |
| G/V | 0.9231 | likely_pathogenic | 0.8655 | pathogenic | -0.286 | Destabilizing | 0.998 | D | 0.655 | neutral | D | 0.59024784 | None | None | N |
| G/W | 0.966 | likely_pathogenic | 0.9397 | pathogenic | -1.164 | Destabilizing | 1.0 | D | 0.682 | prob.neutral | None | None | None | None | N |
| G/Y | 0.96 | likely_pathogenic | 0.9299 | pathogenic | -0.798 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | 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.