Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14147 | 42664;42665;42666 | chr2:178634060;178634059;178634058 | chr2:179498787;179498786;179498785 |
| N2AB | 12506 | 37741;37742;37743 | chr2:178634060;178634059;178634058 | chr2:179498787;179498786;179498785 |
| N2A | 11579 | 34960;34961;34962 | chr2:178634060;178634059;178634058 | chr2:179498787;179498786;179498785 |
| N2B | 5082 | 15469;15470;15471 | chr2:178634060;178634059;178634058 | chr2:179498787;179498786;179498785 |
| Novex-1 | 5207 | 15844;15845;15846 | chr2:178634060;178634059;178634058 | chr2:179498787;179498786;179498785 |
| Novex-2 | 5274 | 16045;16046;16047 | chr2:178634060;178634059;178634058 | chr2:179498787;179498786;179498785 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/R | None | None | 1.0 | D | 0.779 | 0.47 | 0.57134723113 | gnomAD-4.0.0 | 6.84534E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99727E-07 | 0 | 0 |
| P/T | None | None | 1.0 | N | 0.815 | 0.436 | 0.498259528926 | gnomAD-4.0.0 | 3.18598E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.56235E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.1002 | likely_benign | 0.0971 | benign | -0.709 | Destabilizing | 1.0 | D | 0.763 | deleterious | D | 0.590950936 | None | None | N |
| P/C | 0.5778 | likely_pathogenic | 0.558 | ambiguous | -0.593 | Destabilizing | 1.0 | D | 0.732 | prob.delet. | None | None | None | None | N |
| P/D | 0.4742 | ambiguous | 0.479 | ambiguous | -0.028 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| P/E | 0.3084 | likely_benign | 0.2898 | benign | -0.098 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| P/F | 0.5448 | ambiguous | 0.5513 | ambiguous | -0.671 | Destabilizing | 1.0 | D | 0.736 | prob.delet. | None | None | None | None | N |
| P/G | 0.3439 | ambiguous | 0.3547 | ambiguous | -0.92 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| P/H | 0.1984 | likely_benign | 0.1903 | benign | -0.448 | Destabilizing | 1.0 | D | 0.728 | prob.delet. | D | 0.563356159 | None | None | N |
| P/I | 0.394 | ambiguous | 0.3947 | ambiguous | -0.283 | Destabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | N |
| P/K | 0.2622 | likely_benign | 0.2647 | benign | -0.468 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| P/L | 0.152 | likely_benign | 0.149 | benign | -0.283 | Destabilizing | 1.0 | D | 0.807 | deleterious | D | 0.616129321 | None | None | N |
| P/M | 0.3757 | ambiguous | 0.399 | ambiguous | -0.314 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | N |
| P/N | 0.3652 | ambiguous | 0.3744 | ambiguous | -0.171 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | N |
| P/Q | 0.167 | likely_benign | 0.168 | benign | -0.362 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | N |
| P/R | 0.1756 | likely_benign | 0.1729 | benign | -0.021 | Destabilizing | 1.0 | D | 0.779 | deleterious | D | 0.560652647 | None | None | N |
| P/S | 0.142 | likely_benign | 0.1368 | benign | -0.673 | Destabilizing | 1.0 | D | 0.818 | deleterious | N | 0.504613913 | None | None | N |
| P/T | 0.1402 | likely_benign | 0.1305 | benign | -0.631 | Destabilizing | 1.0 | D | 0.815 | deleterious | N | 0.511156116 | None | None | N |
| P/V | 0.2651 | likely_benign | 0.274 | benign | -0.388 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| P/W | 0.7546 | likely_pathogenic | 0.7523 | pathogenic | -0.765 | Destabilizing | 1.0 | D | 0.728 | prob.delet. | None | None | None | None | N |
| P/Y | 0.507 | ambiguous | 0.5157 | ambiguous | -0.463 | Destabilizing | 1.0 | D | 0.747 | 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.