Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3175 | 9748;9749;9750 | chr2:178766561;178766560;178766559 | chr2:179631288;179631287;179631286 |
| N2AB | 3175 | 9748;9749;9750 | chr2:178766561;178766560;178766559 | chr2:179631288;179631287;179631286 |
| N2A | 3175 | 9748;9749;9750 | chr2:178766561;178766560;178766559 | chr2:179631288;179631287;179631286 |
| N2B | 3129 | 9610;9611;9612 | chr2:178766561;178766560;178766559 | chr2:179631288;179631287;179631286 |
| Novex-1 | 3129 | 9610;9611;9612 | chr2:178766561;178766560;178766559 | chr2:179631288;179631287;179631286 |
| Novex-2 | 3129 | 9610;9611;9612 | chr2:178766561;178766560;178766559 | chr2:179631288;179631287;179631286 |
| Novex-3 | 3175 | 9748;9749;9750 | chr2:178766561;178766560;178766559 | chr2:179631288;179631287;179631286 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/I | rs762667276  |
-0.555 | 0.014 | N | 0.244 | 0.152 | 0.241078983079 | gnomAD-2.1.1 | 1.03672E-04 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 8.49285E-04 | None | 0 | 0 | 0 |
| V/I | rs762667276 |
-0.555 | 0.014 | N | 0.244 | 0.152 | 0.241078983079 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07125E-04 | 0 |
| V/I | rs762667276 |
-0.555 | 0.014 | N | 0.244 | 0.152 | 0.241078983079 | gnomAD-4.0.0 | 4.70889E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 8.34395E-04 | 0 |
| V/L | rs762667276 |
None | 0.247 | N | 0.436 | 0.334 | 0.241078983079 | 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 |
| V/L | rs762667276 |
None | 0.247 | N | 0.436 | 0.334 | 0.241078983079 | gnomAD-4.0.0 | 1.23918E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.6949E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.6523 | likely_pathogenic | 0.6352 | pathogenic | -1.255 | Destabilizing | 0.822 | D | 0.505 | neutral | N | 0.508552876 | None | None | N |
| V/C | 0.9651 | likely_pathogenic | 0.9644 | pathogenic | -0.713 | Destabilizing | 0.998 | D | 0.749 | deleterious | None | None | None | None | N |
| V/D | 0.9765 | likely_pathogenic | 0.9707 | pathogenic | -1.212 | Destabilizing | 0.99 | D | 0.854 | deleterious | D | 0.589560402 | None | None | N |
| V/E | 0.9362 | likely_pathogenic | 0.9308 | pathogenic | -1.237 | Destabilizing | 0.993 | D | 0.832 | deleterious | None | None | None | None | N |
| V/F | 0.7874 | likely_pathogenic | 0.8037 | pathogenic | -1.097 | Destabilizing | 0.942 | D | 0.805 | deleterious | D | 0.544891379 | None | None | N |
| V/G | 0.8727 | likely_pathogenic | 0.8518 | pathogenic | -1.532 | Destabilizing | 0.971 | D | 0.834 | deleterious | D | 0.589560402 | None | None | N |
| V/H | 0.99 | likely_pathogenic | 0.989 | pathogenic | -1.157 | Destabilizing | 0.998 | D | 0.817 | deleterious | None | None | None | None | N |
| V/I | 0.103 | likely_benign | 0.1027 | benign | -0.601 | Destabilizing | 0.014 | N | 0.244 | neutral | N | 0.476487282 | None | None | N |
| V/K | 0.9695 | likely_pathogenic | 0.9656 | pathogenic | -1.061 | Destabilizing | 0.978 | D | 0.831 | deleterious | None | None | None | None | N |
| V/L | 0.7495 | likely_pathogenic | 0.7847 | pathogenic | -0.601 | Destabilizing | 0.247 | N | 0.436 | neutral | N | 0.498652565 | None | None | N |
| V/M | 0.5709 | likely_pathogenic | 0.6276 | pathogenic | -0.469 | Destabilizing | 0.956 | D | 0.736 | prob.delet. | None | None | None | None | N |
| V/N | 0.952 | likely_pathogenic | 0.951 | pathogenic | -0.719 | Destabilizing | 0.993 | D | 0.847 | deleterious | None | None | None | None | N |
| V/P | 0.9817 | likely_pathogenic | 0.9742 | pathogenic | -0.785 | Destabilizing | 0.993 | D | 0.843 | deleterious | None | None | None | None | N |
| V/Q | 0.9581 | likely_pathogenic | 0.9533 | pathogenic | -0.904 | Destabilizing | 0.993 | D | 0.836 | deleterious | None | None | None | None | N |
| V/R | 0.9539 | likely_pathogenic | 0.9455 | pathogenic | -0.568 | Destabilizing | 0.993 | D | 0.848 | deleterious | None | None | None | None | N |
| V/S | 0.8515 | likely_pathogenic | 0.8492 | pathogenic | -1.124 | Destabilizing | 0.978 | D | 0.825 | deleterious | None | None | None | None | N |
| V/T | 0.5496 | ambiguous | 0.5506 | ambiguous | -1.041 | Destabilizing | 0.86 | D | 0.666 | neutral | None | None | None | None | N |
| V/W | 0.9949 | likely_pathogenic | 0.9939 | pathogenic | -1.262 | Destabilizing | 0.998 | D | 0.779 | deleterious | None | None | None | None | N |
| V/Y | 0.9785 | likely_pathogenic | 0.9799 | pathogenic | -0.977 | Destabilizing | 0.978 | D | 0.807 | 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.