Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20900 | 62923;62924;62925 | chr2:178589027;178589026;178589025 | chr2:179453754;179453753;179453752 |
| N2AB | 19259 | 58000;58001;58002 | chr2:178589027;178589026;178589025 | chr2:179453754;179453753;179453752 |
| N2A | 18332 | 55219;55220;55221 | chr2:178589027;178589026;178589025 | chr2:179453754;179453753;179453752 |
| N2B | 11835 | 35728;35729;35730 | chr2:178589027;178589026;178589025 | chr2:179453754;179453753;179453752 |
| Novex-1 | 11960 | 36103;36104;36105 | chr2:178589027;178589026;178589025 | chr2:179453754;179453753;179453752 |
| Novex-2 | 12027 | 36304;36305;36306 | chr2:178589027;178589026;178589025 | chr2:179453754;179453753;179453752 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/F | rs1320866364  |
-1.652 | 1.0 | N | 0.765 | 0.395 | 0.450928719235 | gnomAD-2.1.1 | 8.16E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 6.55E-05 | None | 0 | 0 | 0 |
| I/F | rs1320866364 |
-1.652 | 1.0 | N | 0.765 | 0.395 | 0.450928719235 | gnomAD-4.0.0 | 3.19957E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.86656E-05 | 0 |
| I/T | rs770522021 |
-2.782 | 1.0 | N | 0.711 | 0.425 | 0.652629836549 | gnomAD-2.1.1 | 1.22E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.70203E-04 | None | 0 | None | 0 | 0 | 0 |
| I/T | rs770522021 |
-2.782 | 1.0 | N | 0.711 | 0.425 | 0.652629836549 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.94401E-04 | None | 0 | 0 | 0 | 0 | 0 |
| I/T | rs770522021 |
-2.782 | 1.0 | N | 0.711 | 0.425 | 0.652629836549 | gnomAD-4.0.0 | 6.57756E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.94401E-04 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.9002 | likely_pathogenic | 0.8744 | pathogenic | -2.463 | Highly Destabilizing | 0.999 | D | 0.575 | neutral | None | None | None | None | N |
| I/C | 0.8885 | likely_pathogenic | 0.8813 | pathogenic | -2.08 | Highly Destabilizing | 1.0 | D | 0.746 | deleterious | None | None | None | None | N |
| I/D | 0.9877 | likely_pathogenic | 0.9847 | pathogenic | -3.095 | Highly Destabilizing | 1.0 | D | 0.764 | deleterious | None | None | None | None | N |
| I/E | 0.9623 | likely_pathogenic | 0.9497 | pathogenic | -2.988 | Highly Destabilizing | 1.0 | D | 0.76 | deleterious | None | None | None | None | N |
| I/F | 0.4479 | ambiguous | 0.4696 | ambiguous | -1.555 | Destabilizing | 1.0 | D | 0.765 | deleterious | N | 0.519249593 | None | None | N |
| I/G | 0.9762 | likely_pathogenic | 0.9713 | pathogenic | -2.872 | Highly Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | N |
| I/H | 0.8675 | likely_pathogenic | 0.8688 | pathogenic | -2.056 | Highly Destabilizing | 1.0 | D | 0.772 | deleterious | None | None | None | None | N |
| I/K | 0.8887 | likely_pathogenic | 0.8697 | pathogenic | -1.905 | Destabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | N |
| I/L | 0.2788 | likely_benign | 0.2849 | benign | -1.325 | Destabilizing | 0.993 | D | 0.402 | neutral | N | 0.482827433 | None | None | N |
| I/M | 0.3271 | likely_benign | 0.3175 | benign | -1.4 | Destabilizing | 1.0 | D | 0.767 | deleterious | N | 0.49227097 | None | None | N |
| I/N | 0.8333 | likely_pathogenic | 0.8148 | pathogenic | -2.069 | Highly Destabilizing | 1.0 | D | 0.785 | deleterious | N | 0.468998474 | None | None | N |
| I/P | 0.9965 | likely_pathogenic | 0.9959 | pathogenic | -1.683 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| I/Q | 0.8862 | likely_pathogenic | 0.8662 | pathogenic | -2.166 | Highly Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| I/R | 0.8302 | likely_pathogenic | 0.8004 | pathogenic | -1.341 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | N |
| I/S | 0.8309 | likely_pathogenic | 0.7968 | pathogenic | -2.643 | Highly Destabilizing | 1.0 | D | 0.707 | prob.neutral | N | 0.465591432 | None | None | N |
| I/T | 0.6769 | likely_pathogenic | 0.588 | pathogenic | -2.421 | Highly Destabilizing | 1.0 | D | 0.711 | prob.delet. | N | 0.497834171 | None | None | N |
| I/V | 0.1141 | likely_benign | 0.1111 | benign | -1.683 | Destabilizing | 0.993 | D | 0.417 | neutral | N | 0.484790303 | None | None | N |
| I/W | 0.9443 | likely_pathogenic | 0.9561 | pathogenic | -1.788 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| I/Y | 0.8058 | likely_pathogenic | 0.8439 | pathogenic | -1.581 | Destabilizing | 1.0 | D | 0.753 | 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.