Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7456 | 22591;22592;22593 | chr2:178722421;178722420;178722419 | chr2:179587148;179587147;179587146 |
| N2AB | 7139 | 21640;21641;21642 | chr2:178722421;178722420;178722419 | chr2:179587148;179587147;179587146 |
| N2A | 6212 | 18859;18860;18861 | chr2:178722421;178722420;178722419 | chr2:179587148;179587147;179587146 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/E | rs1318521268  |
-0.528 | 0.999 | D | 0.648 | 0.517 | 0.85662319448 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| G/E | rs1318521268 |
-0.528 | 0.999 | D | 0.648 | 0.517 | 0.85662319448 | gnomAD-4.0.0 | 1.59202E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43316E-05 | 0 |
| G/R | rs1244883494 |
-0.516 | 1.0 | D | 0.686 | 0.595 | 0.899589805243 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 6.46831E-04 | None | 0 | None | 0 | 0 | 0 |
| G/R | rs1244883494 |
-0.516 | 1.0 | D | 0.686 | 0.595 | 0.899589805243 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.93798E-04 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | rs1244883494 |
-0.516 | 1.0 | D | 0.686 | 0.595 | 0.899589805243 | gnomAD-4.0.0 | 6.57687E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.93798E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.287 | likely_benign | 0.2624 | benign | -0.327 | Destabilizing | 0.98 | D | 0.466 | neutral | D | 0.593151667 | None | None | N |
| G/C | 0.5667 | likely_pathogenic | 0.5031 | ambiguous | -0.934 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | N |
| G/D | 0.193 | likely_benign | 0.161 | benign | -0.501 | Destabilizing | 0.668 | D | 0.371 | neutral | None | None | None | None | N |
| G/E | 0.3026 | likely_benign | 0.2553 | benign | -0.646 | Destabilizing | 0.999 | D | 0.648 | neutral | D | 0.550817338 | None | None | N |
| G/F | 0.8738 | likely_pathogenic | 0.8396 | pathogenic | -0.948 | Destabilizing | 1.0 | D | 0.728 | prob.delet. | None | None | None | None | N |
| G/H | 0.4763 | ambiguous | 0.4235 | ambiguous | -0.44 | Destabilizing | 1.0 | D | 0.674 | neutral | None | None | None | None | N |
| G/I | 0.7829 | likely_pathogenic | 0.7232 | pathogenic | -0.438 | Destabilizing | 1.0 | D | 0.72 | prob.delet. | None | None | None | None | N |
| G/K | 0.5089 | ambiguous | 0.4352 | ambiguous | -0.839 | Destabilizing | 1.0 | D | 0.659 | neutral | None | None | None | None | N |
| G/L | 0.805 | likely_pathogenic | 0.759 | pathogenic | -0.438 | Destabilizing | 1.0 | D | 0.681 | prob.neutral | None | None | None | None | N |
| G/M | 0.7756 | likely_pathogenic | 0.7214 | pathogenic | -0.606 | Destabilizing | 1.0 | D | 0.716 | prob.delet. | None | None | None | None | N |
| G/N | 0.232 | likely_benign | 0.2053 | benign | -0.551 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | None | N |
| G/P | 0.9798 | likely_pathogenic | 0.9776 | pathogenic | -0.369 | Destabilizing | 0.999 | D | 0.665 | neutral | None | None | None | None | N |
| G/Q | 0.3964 | ambiguous | 0.3457 | ambiguous | -0.795 | Destabilizing | 1.0 | D | 0.685 | prob.neutral | None | None | None | None | N |
| G/R | 0.3586 | ambiguous | 0.3073 | benign | -0.389 | Destabilizing | 1.0 | D | 0.686 | prob.neutral | D | 0.601509595 | None | None | N |
| G/S | 0.1124 | likely_benign | 0.1104 | benign | -0.717 | Destabilizing | 0.922 | D | 0.381 | neutral | None | None | None | None | N |
| G/T | 0.3662 | ambiguous | 0.3266 | benign | -0.785 | Destabilizing | 0.999 | D | 0.67 | neutral | None | None | None | None | N |
| G/V | 0.6651 | likely_pathogenic | 0.6035 | pathogenic | -0.369 | Destabilizing | 1.0 | D | 0.683 | prob.neutral | D | 0.647790723 | None | None | N |
| G/W | 0.7616 | likely_pathogenic | 0.7139 | pathogenic | -1.104 | Destabilizing | 1.0 | D | 0.681 | prob.neutral | None | None | None | None | N |
| G/Y | 0.7417 | likely_pathogenic | 0.6686 | pathogenic | -0.766 | Destabilizing | 1.0 | D | 0.726 | prob.delet. | 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.