Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 182 | 769;770;771 | chr2:178800434;178800433;178800432 | chr2:179665161;179665160;179665159 |
| N2AB | 182 | 769;770;771 | chr2:178800434;178800433;178800432 | chr2:179665161;179665160;179665159 |
| N2A | 182 | 769;770;771 | chr2:178800434;178800433;178800432 | chr2:179665161;179665160;179665159 |
| N2B | 182 | 769;770;771 | chr2:178800434;178800433;178800432 | chr2:179665161;179665160;179665159 |
| Novex-1 | 182 | 769;770;771 | chr2:178800434;178800433;178800432 | chr2:179665161;179665160;179665159 |
| Novex-2 | 182 | 769;770;771 | chr2:178800434;178800433;178800432 | chr2:179665161;179665160;179665159 |
| Novex-3 | 182 | 769;770;771 | chr2:178800434;178800433;178800432 | chr2:179665161;179665160;179665159 |
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/A | rs779093531  |
-1.01 | 0.955 | N | 0.363 | 0.354 | 0.525767821325 | gnomAD-2.1.1 | 7.96E-06 | None | None | None | -0.737(TCAP) | I | None | 0 | 2.89E-05 | None | 0 | 0 | None | 0 | None | 0 | 8.8E-06 | 0 |
| V/A | rs779093531 |
-1.01 | 0.955 | N | 0.363 | 0.354 | 0.525767821325 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | -0.737(TCAP) | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| V/A | rs779093531 |
-1.01 | 0.955 | N | 0.363 | 0.354 | 0.525767821325 | gnomAD-4.0.0 | 6.19593E-06 | None | None | None | -0.737(TCAP) | I | None | 0 | 3.33333E-05 | None | 0 | 0 | None | 0 | 0 | 6.77974E-06 | 0 | 0 |
| V/G | None | None | 0.997 | N | 0.566 | 0.58 | 0.861525825586 | gnomAD-4.0.0 | 6.84062E-07 | None | None | None | -0.686(TCAP) | I | None | 2.98686E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | rs370941860 |
-0.56 | 0.987 | N | 0.457 | 0.238 | None | gnomAD-2.1.1 | 1.59E-05 | None | None | None | -0.963(TCAP) | I | None | 6.15E-05 | 0 | None | 0 | 0 | None | 6.53E-05 | None | 0 | 8.8E-06 | 0 |
| V/I | rs370941860 |
-0.56 | 0.987 | N | 0.457 | 0.238 | None | gnomAD-3.1.2 | 1.97E-05 | None | None | None | -0.963(TCAP) | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| V/I | rs370941860 |
-0.56 | 0.987 | N | 0.457 | 0.238 | None | gnomAD-4.0.0 | 1.05326E-05 | None | None | None | -0.963(TCAP) | I | None | 4.00416E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 7.62704E-06 | 5.48944E-05 | 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 | 0.1617 | likely_benign | 0.1753 | benign | -0.317 | Destabilizing | 0.955 | D | 0.363 | neutral | N | 0.403574354 | None | -0.737(TCAP) | I |
| V/C | 0.9195 | likely_pathogenic | 0.9455 | pathogenic | -0.71 | Destabilizing | 1.0 | D | 0.532 | neutral | None | None | None | -0.451(TCAP) | I |
| V/D | 0.566 | likely_pathogenic | 0.6257 | pathogenic | -0.221 | Destabilizing | 0.999 | D | 0.561 | neutral | D | 0.617170225 | None | -1.706(TCAP) | I |
| V/E | 0.4045 | ambiguous | 0.4361 | ambiguous | -0.344 | Destabilizing | 0.982 | D | 0.557 | neutral | None | None | None | -1.828(TCAP) | I |
| V/F | 0.2304 | likely_benign | 0.2608 | benign | -0.672 | Destabilizing | 1.0 | D | 0.517 | neutral | N | 0.50371934 | None | 0.043(TCAP) | I |
| V/G | 0.3424 | ambiguous | 0.3884 | ambiguous | -0.39 | Destabilizing | 0.997 | D | 0.566 | neutral | N | 0.514123834 | None | -0.686(TCAP) | I |
| V/H | 0.7388 | likely_pathogenic | 0.7971 | pathogenic | 0.022 | Stabilizing | 1.0 | D | 0.636 | neutral | None | None | None | -0.587(TCAP) | I |
| V/I | 0.1143 | likely_benign | 0.1205 | benign | -0.277 | Destabilizing | 0.987 | D | 0.457 | neutral | N | 0.506773855 | None | -0.963(TCAP) | I |
| V/K | 0.5597 | ambiguous | 0.6363 | pathogenic | -0.324 | Destabilizing | 0.992 | D | 0.553 | neutral | None | None | None | -1.752(TCAP) | I |
| V/L | 0.3478 | ambiguous | 0.3944 | ambiguous | -0.277 | Destabilizing | 0.971 | D | 0.479 | neutral | N | 0.489859675 | None | -0.963(TCAP) | I |
| V/M | 0.2166 | likely_benign | 0.239 | benign | -0.444 | Destabilizing | 1.0 | D | 0.464 | neutral | None | None | None | -0.357(TCAP) | I |
| V/N | 0.4385 | ambiguous | 0.4842 | ambiguous | -0.108 | Destabilizing | 0.984 | D | 0.565 | neutral | None | None | None | -0.611(TCAP) | I |
| V/P | 0.9264 | likely_pathogenic | 0.9483 | pathogenic | -0.26 | Destabilizing | 0.992 | D | 0.588 | neutral | None | None | None | -0.875(TCAP) | I |
| V/Q | 0.4375 | ambiguous | 0.4736 | ambiguous | -0.337 | Destabilizing | 0.998 | D | 0.609 | neutral | None | None | None | -0.806(TCAP) | I |
| V/R | 0.4753 | ambiguous | 0.5555 | ambiguous | 0.15 | Stabilizing | 0.999 | D | 0.627 | neutral | None | None | None | -1.879(TCAP) | I |
| V/S | 0.2228 | likely_benign | 0.2424 | benign | -0.439 | Destabilizing | 0.688 | D | 0.417 | neutral | None | None | None | -0.52(TCAP) | I |
| V/T | 0.206 | likely_benign | 0.2285 | benign | -0.466 | Destabilizing | 0.965 | D | 0.438 | neutral | None | None | None | -0.65(TCAP) | I |
| V/W | 0.9126 | likely_pathogenic | 0.9321 | pathogenic | -0.732 | Destabilizing | 1.0 | D | 0.671 | neutral | None | None | None | -0.064(TCAP) | I |
| V/Y | 0.7311 | likely_pathogenic | 0.7769 | pathogenic | -0.443 | Destabilizing | 1.0 | D | 0.509 | neutral | None | None | None | 0.168(TCAP) | 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.