Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2784 | 8575;8576;8577 | chr2:178770442;178770441;178770440 | chr2:179635169;179635168;179635167 |
| N2AB | 2784 | 8575;8576;8577 | chr2:178770442;178770441;178770440 | chr2:179635169;179635168;179635167 |
| N2A | 2784 | 8575;8576;8577 | chr2:178770442;178770441;178770440 | chr2:179635169;179635168;179635167 |
| N2B | 2738 | 8437;8438;8439 | chr2:178770442;178770441;178770440 | chr2:179635169;179635168;179635167 |
| Novex-1 | 2738 | 8437;8438;8439 | chr2:178770442;178770441;178770440 | chr2:179635169;179635168;179635167 |
| Novex-2 | 2738 | 8437;8438;8439 | chr2:178770442;178770441;178770440 | chr2:179635169;179635168;179635167 |
| Novex-3 | 2784 | 8575;8576;8577 | chr2:178770442;178770441;178770440 | chr2:179635169;179635168;179635167 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/I | None | None | 0.117 | D | 0.211 | 0.193 | 0.386395597597 | gnomAD-4.0.0 | 1.59055E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85649E-06 | 0 | 0 |
| L/P | None | None | 0.999 | D | 0.786 | 0.715 | 0.904605819014 | gnomAD-4.0.0 | 2.73631E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59717E-06 | 0 | 0 |
| L/R | rs766041336  |
-0.089 | 0.999 | D | 0.781 | 0.662 | 0.885753467148 | gnomAD-2.1.1 | 3.99E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.83E-06 | 0 |
| L/R | rs766041336 |
-0.089 | 0.999 | D | 0.781 | 0.662 | 0.885753467148 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.78927E-04 |
| L/R | rs766041336 |
-0.089 | 0.999 | D | 0.781 | 0.662 | 0.885753467148 | gnomAD-4.0.0 | 1.23904E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.47445E-07 | 0 | 1.59995E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.2812 | likely_benign | 0.411 | ambiguous | -0.846 | Destabilizing | 0.983 | D | 0.631 | neutral | None | None | None | None | N |
| L/C | 0.7032 | likely_pathogenic | 0.811 | pathogenic | -0.892 | Destabilizing | 1.0 | D | 0.754 | deleterious | None | None | None | None | N |
| L/D | 0.7931 | likely_pathogenic | 0.9093 | pathogenic | -0.036 | Destabilizing | 0.999 | D | 0.785 | deleterious | None | None | None | None | N |
| L/E | 0.5063 | ambiguous | 0.6817 | pathogenic | -0.042 | Destabilizing | 0.999 | D | 0.783 | deleterious | None | None | None | None | N |
| L/F | 0.1981 | likely_benign | 0.2965 | benign | -0.458 | Destabilizing | 0.993 | D | 0.723 | prob.delet. | D | 0.60102513 | None | None | N |
| L/G | 0.6484 | likely_pathogenic | 0.8051 | pathogenic | -1.103 | Destabilizing | 0.999 | D | 0.771 | deleterious | None | None | None | None | N |
| L/H | 0.3434 | ambiguous | 0.5002 | ambiguous | -0.25 | Destabilizing | 1.0 | D | 0.777 | deleterious | D | 0.545631573 | None | None | N |
| L/I | 0.0827 | likely_benign | 0.1011 | benign | -0.245 | Destabilizing | 0.117 | N | 0.211 | neutral | D | 0.530665983 | None | None | N |
| L/K | 0.4304 | ambiguous | 0.5848 | pathogenic | -0.58 | Destabilizing | 0.998 | D | 0.771 | deleterious | None | None | None | None | N |
| L/M | 0.1432 | likely_benign | 0.1643 | benign | -0.526 | Destabilizing | 0.995 | D | 0.699 | prob.neutral | None | None | None | None | N |
| L/N | 0.4645 | ambiguous | 0.6586 | pathogenic | -0.54 | Destabilizing | 0.999 | D | 0.783 | deleterious | None | None | None | None | N |
| L/P | 0.6676 | likely_pathogenic | 0.8348 | pathogenic | -0.413 | Destabilizing | 0.999 | D | 0.786 | deleterious | D | 0.602733534 | None | None | N |
| L/Q | 0.2625 | likely_benign | 0.359 | ambiguous | -0.606 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| L/R | 0.3482 | ambiguous | 0.495 | ambiguous | -0.157 | Destabilizing | 0.999 | D | 0.781 | deleterious | D | 0.602292905 | None | None | N |
| L/S | 0.3664 | ambiguous | 0.5573 | ambiguous | -1.112 | Destabilizing | 0.998 | D | 0.774 | deleterious | None | None | None | None | N |
| L/T | 0.2414 | likely_benign | 0.3607 | ambiguous | -0.991 | Destabilizing | 0.995 | D | 0.741 | deleterious | None | None | None | None | N |
| L/V | 0.1144 | likely_benign | 0.1313 | benign | -0.413 | Destabilizing | 0.898 | D | 0.469 | neutral | D | 0.602733534 | None | None | N |
| L/W | 0.3693 | ambiguous | 0.5127 | ambiguous | -0.515 | Destabilizing | 1.0 | D | 0.77 | deleterious | None | None | None | None | N |
| L/Y | 0.4584 | ambiguous | 0.6204 | pathogenic | -0.279 | Destabilizing | 0.999 | D | 0.786 | 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.