Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30535 | 91828;91829;91830 | chr2:178550235;178550234;178550233 | chr2:179414962;179414961;179414960 |
| N2AB | 28894 | 86905;86906;86907 | chr2:178550235;178550234;178550233 | chr2:179414962;179414961;179414960 |
| N2A | 27967 | 84124;84125;84126 | chr2:178550235;178550234;178550233 | chr2:179414962;179414961;179414960 |
| N2B | 21470 | 64633;64634;64635 | chr2:178550235;178550234;178550233 | chr2:179414962;179414961;179414960 |
| Novex-1 | 21595 | 65008;65009;65010 | chr2:178550235;178550234;178550233 | chr2:179414962;179414961;179414960 |
| Novex-2 | 21662 | 65209;65210;65211 | chr2:178550235;178550234;178550233 | chr2:179414962;179414961;179414960 |
| 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/D | rs374896493  |
-0.459 | 1.0 | N | 0.743 | 0.324 | None | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| G/D | rs374896493 |
-0.459 | 1.0 | N | 0.743 | 0.324 | None | gnomAD-4.0.0 | 3.18528E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.72125E-06 | 0 | 0 |
| G/S | None | None | 1.0 | N | 0.724 | 0.316 | 0.202949470691 | gnomAD-4.0.0 | 3.18505E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.72079E-06 | 0 | 0 |
| G/V | rs374896493 |
0.033 | 1.0 | N | 0.756 | 0.332 | 0.576407682716 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| G/V | rs374896493 |
0.033 | 1.0 | N | 0.756 | 0.332 | 0.576407682716 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| G/V | rs374896493 |
0.033 | 1.0 | N | 0.756 | 0.332 | 0.576407682716 | gnomAD-4.0.0 | 1.31553E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.93988E-05 | 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 | 0.1702 | likely_benign | 0.2165 | benign | -0.28 | Destabilizing | 1.0 | D | 0.655 | neutral | N | 0.508386733 | None | None | N |
| G/C | 0.233 | likely_benign | 0.2899 | benign | -0.748 | Destabilizing | 1.0 | D | 0.747 | deleterious | N | 0.478733893 | None | None | N |
| G/D | 0.2815 | likely_benign | 0.3615 | ambiguous | -0.462 | Destabilizing | 1.0 | D | 0.743 | deleterious | N | 0.472961864 | None | None | N |
| G/E | 0.2594 | likely_benign | 0.3443 | ambiguous | -0.542 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | N |
| G/F | 0.6705 | likely_pathogenic | 0.7922 | pathogenic | -0.708 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| G/H | 0.4528 | ambiguous | 0.5599 | ambiguous | -0.748 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | N |
| G/I | 0.3605 | ambiguous | 0.4555 | ambiguous | -0.082 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| G/K | 0.5523 | ambiguous | 0.6764 | pathogenic | -0.903 | Destabilizing | 1.0 | D | 0.726 | prob.delet. | None | None | None | None | N |
| G/L | 0.5248 | ambiguous | 0.6532 | pathogenic | -0.082 | Destabilizing | 1.0 | D | 0.754 | deleterious | None | None | None | None | N |
| G/M | 0.5066 | ambiguous | 0.6107 | pathogenic | -0.336 | Destabilizing | 1.0 | D | 0.748 | deleterious | None | None | None | None | N |
| G/N | 0.2797 | likely_benign | 0.3288 | benign | -0.568 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | N |
| G/P | 0.8894 | likely_pathogenic | 0.9332 | pathogenic | -0.108 | Destabilizing | 1.0 | D | 0.72 | prob.delet. | None | None | None | None | N |
| G/Q | 0.3992 | ambiguous | 0.4914 | ambiguous | -0.709 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| G/R | 0.4419 | ambiguous | 0.5824 | pathogenic | -0.633 | Destabilizing | 1.0 | D | 0.71 | prob.delet. | N | 0.457146918 | None | None | N |
| G/S | 0.1111 | likely_benign | 0.1348 | benign | -0.784 | Destabilizing | 1.0 | D | 0.724 | prob.delet. | N | 0.494724003 | None | None | N |
| G/T | 0.1708 | likely_benign | 0.1987 | benign | -0.772 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | N |
| G/V | 0.2639 | likely_benign | 0.3558 | ambiguous | -0.108 | Destabilizing | 1.0 | D | 0.756 | deleterious | N | 0.501287403 | None | None | N |
| G/W | 0.5997 | likely_pathogenic | 0.7194 | pathogenic | -1.025 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | N |
| G/Y | 0.5044 | ambiguous | 0.6402 | pathogenic | -0.595 | Destabilizing | 1.0 | D | 0.745 | 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.