Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 156 | 691;692;693 | chr2:178800512;178800511;178800510 | chr2:179665239;179665238;179665237 |
| N2AB | 156 | 691;692;693 | chr2:178800512;178800511;178800510 | chr2:179665239;179665238;179665237 |
| N2A | 156 | 691;692;693 | chr2:178800512;178800511;178800510 | chr2:179665239;179665238;179665237 |
| N2B | 156 | 691;692;693 | chr2:178800512;178800511;178800510 | chr2:179665239;179665238;179665237 |
| Novex-1 | 156 | 691;692;693 | chr2:178800512;178800511;178800510 | chr2:179665239;179665238;179665237 |
| Novex-2 | 156 | 691;692;693 | chr2:178800512;178800511;178800510 | chr2:179665239;179665238;179665237 |
| Novex-3 | 156 | 691;692;693 | chr2:178800512;178800511;178800510 | chr2:179665239;179665238;179665237 |
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/S | None | None | 0.956 | D | 0.625 | 0.546 | 0.438278051908 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | -0.104(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 | 0.4279 | ambiguous | 0.468 | ambiguous | -0.34 | Destabilizing | 0.86 | D | 0.533 | neutral | D | 0.59499544 | None | -0.427(TCAP) | N |
| G/C | 0.8581 | likely_pathogenic | 0.8731 | pathogenic | -0.821 | Destabilizing | 0.999 | D | 0.743 | deleterious | D | 0.686258032 | None | 0.03(TCAP) | N |
| G/D | 0.2733 | likely_benign | 0.2993 | benign | -0.568 | Destabilizing | 0.087 | N | 0.537 | neutral | D | 0.531595929 | None | -0.354(TCAP) | N |
| G/E | 0.41 | ambiguous | 0.4554 | ambiguous | -0.701 | Destabilizing | 0.988 | D | 0.7 | prob.neutral | None | None | None | -0.447(TCAP) | N |
| G/F | 0.9607 | likely_pathogenic | 0.9694 | pathogenic | -0.915 | Destabilizing | 1.0 | D | 0.758 | deleterious | None | None | None | 0.364(TCAP) | N |
| G/H | 0.8555 | likely_pathogenic | 0.8711 | pathogenic | -0.51 | Destabilizing | 1.0 | D | 0.702 | prob.neutral | None | None | None | 0.366(TCAP) | N |
| G/I | 0.8948 | likely_pathogenic | 0.9274 | pathogenic | -0.369 | Destabilizing | 0.999 | D | 0.759 | deleterious | None | None | None | -0.42(TCAP) | N |
| G/K | 0.7548 | likely_pathogenic | 0.786 | pathogenic | -0.869 | Destabilizing | 0.994 | D | 0.698 | prob.neutral | None | None | None | -0.48(TCAP) | N |
| G/L | 0.9089 | likely_pathogenic | 0.9243 | pathogenic | -0.369 | Destabilizing | 0.997 | D | 0.753 | deleterious | None | None | None | -0.42(TCAP) | N |
| G/M | 0.9127 | likely_pathogenic | 0.926 | pathogenic | -0.514 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | -0.081(TCAP) | N |
| G/N | 0.4351 | ambiguous | 0.4481 | ambiguous | -0.528 | Destabilizing | 0.988 | D | 0.669 | neutral | None | None | None | -0.345(TCAP) | N |
| G/P | 0.9772 | likely_pathogenic | 0.982 | pathogenic | -0.324 | Destabilizing | 0.992 | D | 0.731 | prob.delet. | None | None | None | -0.417(TCAP) | N |
| G/Q | 0.697 | likely_pathogenic | 0.7231 | pathogenic | -0.773 | Destabilizing | 0.997 | D | 0.733 | prob.delet. | None | None | None | -0.262(TCAP) | N |
| G/R | 0.6955 | likely_pathogenic | 0.7333 | pathogenic | -0.413 | Destabilizing | 0.996 | D | 0.733 | prob.delet. | D | 0.59512504 | None | -0.771(TCAP) | N |
| G/S | 0.2611 | likely_benign | 0.2755 | benign | -0.7 | Destabilizing | 0.956 | D | 0.625 | neutral | D | 0.53079851 | None | -0.104(TCAP) | N |
| G/T | 0.6224 | likely_pathogenic | 0.6825 | pathogenic | -0.756 | Destabilizing | 0.994 | D | 0.693 | prob.neutral | None | None | None | -0.157(TCAP) | N |
| G/V | 0.7734 | likely_pathogenic | 0.8291 | pathogenic | -0.324 | Destabilizing | 0.996 | D | 0.759 | deleterious | D | 0.701367179 | None | -0.417(TCAP) | N |
| G/W | 0.8969 | likely_pathogenic | 0.9164 | pathogenic | -1.104 | Destabilizing | 1.0 | D | 0.728 | prob.delet. | None | None | None | 0.418(TCAP) | N |
| G/Y | 0.9024 | likely_pathogenic | 0.9192 | pathogenic | -0.745 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | 0.412(TCAP) | 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.