Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20081 | 60466;60467;60468 | chr2:178591484;178591483;178591482 | chr2:179456211;179456210;179456209 |
| N2AB | 18440 | 55543;55544;55545 | chr2:178591484;178591483;178591482 | chr2:179456211;179456210;179456209 |
| N2A | 17513 | 52762;52763;52764 | chr2:178591484;178591483;178591482 | chr2:179456211;179456210;179456209 |
| N2B | 11016 | 33271;33272;33273 | chr2:178591484;178591483;178591482 | chr2:179456211;179456210;179456209 |
| Novex-1 | 11141 | 33646;33647;33648 | chr2:178591484;178591483;178591482 | chr2:179456211;179456210;179456209 |
| Novex-2 | 11208 | 33847;33848;33849 | chr2:178591484;178591483;178591482 | chr2:179456211;179456210;179456209 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/G | rs369680191  |
-0.305 | 1.0 | N | 0.705 | 0.579 | None | gnomAD-2.1.1 | 2.22E-05 | None | None | None | None | I | None | 0 | 0 | None | 4.55166E-04 | 0 | None | 0 | None | 0 | 9.4E-06 | 0 |
| D/G | rs369680191 |
-0.305 | 1.0 | N | 0.705 | 0.579 | None | gnomAD-4.0.0 | 9.05774E-06 | None | None | None | None | I | None | 0 | 0 | None | 3.19591E-04 | 0 | None | 0 | 0 | 2.71807E-06 | 0 | 3.37075E-05 |
| D/H | rs773444432 |
0.541 | 1.0 | N | 0.687 | 0.516 | 0.539478914628 | gnomAD-2.1.1 | 4.44E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.42E-06 | 0 |
| D/H | rs773444432 |
0.541 | 1.0 | N | 0.687 | 0.516 | 0.539478914628 | gnomAD-4.0.0 | 1.66195E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.92661E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.8898 | likely_pathogenic | 0.7821 | pathogenic | -0.023 | Destabilizing | 1.0 | D | 0.704 | prob.neutral | N | 0.519317172 | None | None | I |
| D/C | 0.9919 | likely_pathogenic | 0.9878 | pathogenic | -0.166 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | I |
| D/E | 0.8699 | likely_pathogenic | 0.7928 | pathogenic | -0.28 | Destabilizing | 1.0 | D | 0.473 | neutral | N | 0.49517253 | None | None | I |
| D/F | 0.9919 | likely_pathogenic | 0.9832 | pathogenic | 0.265 | Stabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | I |
| D/G | 0.925 | likely_pathogenic | 0.8384 | pathogenic | -0.252 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | N | 0.508214357 | None | None | I |
| D/H | 0.9623 | likely_pathogenic | 0.9202 | pathogenic | 0.628 | Stabilizing | 1.0 | D | 0.687 | prob.neutral | N | 0.52058462 | None | None | I |
| D/I | 0.9841 | likely_pathogenic | 0.9662 | pathogenic | 0.537 | Stabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | I |
| D/K | 0.989 | likely_pathogenic | 0.9768 | pathogenic | 0.353 | Stabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | I |
| D/L | 0.9621 | likely_pathogenic | 0.9339 | pathogenic | 0.537 | Stabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | I |
| D/M | 0.992 | likely_pathogenic | 0.984 | pathogenic | 0.378 | Stabilizing | 1.0 | D | 0.706 | prob.neutral | None | None | None | None | I |
| D/N | 0.7155 | likely_pathogenic | 0.5856 | pathogenic | -0.185 | Destabilizing | 1.0 | D | 0.67 | neutral | N | 0.496097583 | None | None | I |
| D/P | 0.9266 | likely_pathogenic | 0.8739 | pathogenic | 0.374 | Stabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | I |
| D/Q | 0.9756 | likely_pathogenic | 0.9516 | pathogenic | -0.085 | Destabilizing | 1.0 | D | 0.732 | prob.delet. | None | None | None | None | I |
| D/R | 0.9852 | likely_pathogenic | 0.9712 | pathogenic | 0.666 | Stabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | I |
| D/S | 0.8083 | likely_pathogenic | 0.6675 | pathogenic | -0.264 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | I |
| D/T | 0.9612 | likely_pathogenic | 0.9089 | pathogenic | -0.067 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | I |
| D/V | 0.9436 | likely_pathogenic | 0.8958 | pathogenic | 0.374 | Stabilizing | 1.0 | D | 0.714 | prob.delet. | N | 0.520077641 | None | None | I |
| D/W | 0.9975 | likely_pathogenic | 0.9952 | pathogenic | 0.403 | Stabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | I |
| D/Y | 0.9418 | likely_pathogenic | 0.8907 | pathogenic | 0.515 | Stabilizing | 1.0 | D | 0.703 | prob.neutral | N | 0.52083811 | 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.