Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24388 | 73387;73388;73389 | chr2:178572970;178572969;178572968 | chr2:179437697;179437696;179437695 |
| N2AB | 22747 | 68464;68465;68466 | chr2:178572970;178572969;178572968 | chr2:179437697;179437696;179437695 |
| N2A | 21820 | 65683;65684;65685 | chr2:178572970;178572969;178572968 | chr2:179437697;179437696;179437695 |
| N2B | 15323 | 46192;46193;46194 | chr2:178572970;178572969;178572968 | chr2:179437697;179437696;179437695 |
| Novex-1 | 15448 | 46567;46568;46569 | chr2:178572970;178572969;178572968 | chr2:179437697;179437696;179437695 |
| Novex-2 | 15515 | 46768;46769;46770 | chr2:178572970;178572969;178572968 | chr2:179437697;179437696;179437695 |
| 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/S | rs768369089  |
-0.143 | None | N | 0.095 | 0.082 | 0.0611884634855 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| G/S | rs768369089 |
-0.143 | None | N | 0.095 | 0.082 | 0.0611884634855 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/S | rs768369089 |
-0.143 | None | N | 0.095 | 0.082 | 0.0611884634855 | gnomAD-4.0.0 | 2.56421E-06 | None | None | None | None | N | None | 1.69228E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.34055E-05 | 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 | 0.0946 | likely_benign | 0.1002 | benign | -0.185 | Destabilizing | 0.012 | N | 0.307 | neutral | N | 0.481022661 | None | None | N |
| G/C | 0.1359 | likely_benign | 0.1412 | benign | -0.879 | Destabilizing | 0.612 | D | 0.493 | neutral | N | 0.508534665 | None | None | N |
| G/D | 0.08 | likely_benign | 0.0897 | benign | -0.094 | Destabilizing | None | N | 0.201 | neutral | N | 0.446477057 | None | None | N |
| G/E | 0.1309 | likely_benign | 0.142 | benign | -0.243 | Destabilizing | 0.016 | N | 0.319 | neutral | None | None | None | None | N |
| G/F | 0.4534 | ambiguous | 0.4753 | ambiguous | -0.884 | Destabilizing | 0.356 | N | 0.514 | neutral | None | None | None | None | N |
| G/H | 0.142 | likely_benign | 0.1672 | benign | -0.379 | Destabilizing | 0.214 | N | 0.461 | neutral | None | None | None | None | N |
| G/I | 0.2898 | likely_benign | 0.2965 | benign | -0.344 | Destabilizing | 0.214 | N | 0.526 | neutral | None | None | None | None | N |
| G/K | 0.1621 | likely_benign | 0.1872 | benign | -0.533 | Destabilizing | None | N | 0.262 | neutral | None | None | None | None | N |
| G/L | 0.2934 | likely_benign | 0.3094 | benign | -0.344 | Destabilizing | 0.072 | N | 0.509 | neutral | None | None | None | None | N |
| G/M | 0.3198 | likely_benign | 0.3384 | benign | -0.488 | Destabilizing | 0.864 | D | 0.491 | neutral | None | None | None | None | N |
| G/N | 0.0824 | likely_benign | 0.0991 | benign | -0.268 | Destabilizing | None | N | 0.075 | neutral | None | None | None | None | N |
| G/P | 0.7235 | likely_pathogenic | 0.7394 | pathogenic | -0.261 | Destabilizing | 0.214 | N | 0.51 | neutral | None | None | None | None | N |
| G/Q | 0.1573 | likely_benign | 0.1728 | benign | -0.479 | Destabilizing | 0.072 | N | 0.499 | neutral | None | None | None | None | N |
| G/R | 0.1493 | likely_benign | 0.165 | benign | -0.211 | Destabilizing | 0.029 | N | 0.467 | neutral | N | 0.510221891 | None | None | N |
| G/S | 0.0664 | likely_benign | 0.0724 | benign | -0.471 | Destabilizing | None | N | 0.095 | neutral | N | 0.491924132 | None | None | N |
| G/T | 0.1128 | likely_benign | 0.1213 | benign | -0.535 | Destabilizing | 0.038 | N | 0.36 | neutral | None | None | None | None | N |
| G/V | 0.2065 | likely_benign | 0.216 | benign | -0.261 | Destabilizing | 0.055 | N | 0.521 | neutral | N | 0.508534665 | None | None | N |
| G/W | 0.3798 | ambiguous | 0.3693 | ambiguous | -1.033 | Destabilizing | 0.864 | D | 0.499 | neutral | None | None | None | None | N |
| G/Y | 0.2465 | likely_benign | 0.2759 | benign | -0.677 | Destabilizing | 0.356 | N | 0.514 | neutral | 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.