Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28423 | 85492;85493;85494 | chr2:178560865;178560864;178560863 | chr2:179425592;179425591;179425590 |
| N2AB | 26782 | 80569;80570;80571 | chr2:178560865;178560864;178560863 | chr2:179425592;179425591;179425590 |
| N2A | 25855 | 77788;77789;77790 | chr2:178560865;178560864;178560863 | chr2:179425592;179425591;179425590 |
| N2B | 19358 | 58297;58298;58299 | chr2:178560865;178560864;178560863 | chr2:179425592;179425591;179425590 |
| Novex-1 | 19483 | 58672;58673;58674 | chr2:178560865;178560864;178560863 | chr2:179425592;179425591;179425590 |
| Novex-2 | 19550 | 58873;58874;58875 | chr2:178560865;178560864;178560863 | chr2:179425592;179425591;179425590 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/Q | rs747851682  |
0.311 | 0.989 | N | 0.417 | 0.188 | None | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.6E-05 | None | 3.27E-05 | None | 0 | 8.89E-06 | 0 |
| R/Q | rs747851682 |
0.311 | 0.989 | N | 0.417 | 0.188 | None | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| R/Q | rs747851682 |
0.311 | 0.989 | N | 0.417 | 0.188 | None | gnomAD-4.0.0 | 8.67662E-06 | None | None | None | None | N | None | 4.00534E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 6.78076E-06 | 3.29424E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.2387 | likely_benign | 0.2268 | benign | 0.055 | Stabilizing | 0.559 | D | 0.453 | neutral | None | None | None | None | N |
| R/C | 0.1734 | likely_benign | 0.1717 | benign | -0.139 | Destabilizing | 0.998 | D | 0.523 | neutral | None | None | None | None | N |
| R/D | 0.5161 | ambiguous | 0.4617 | ambiguous | -0.15 | Destabilizing | 0.956 | D | 0.427 | neutral | None | None | None | None | N |
| R/E | 0.2587 | likely_benign | 0.2404 | benign | -0.094 | Destabilizing | 0.754 | D | 0.444 | neutral | None | None | None | None | N |
| R/F | 0.5129 | ambiguous | 0.4884 | ambiguous | -0.232 | Destabilizing | 0.993 | D | 0.483 | neutral | None | None | None | None | N |
| R/G | 0.145 | likely_benign | 0.1323 | benign | -0.118 | Destabilizing | 0.035 | N | 0.342 | neutral | N | 0.442508458 | None | None | N |
| R/H | 0.1106 | likely_benign | 0.1078 | benign | -0.673 | Destabilizing | 0.978 | D | 0.399 | neutral | None | None | None | None | N |
| R/I | 0.2317 | likely_benign | 0.2237 | benign | 0.468 | Stabilizing | 0.978 | D | 0.481 | neutral | None | None | None | None | N |
| R/K | 0.0916 | likely_benign | 0.0841 | benign | -0.054 | Destabilizing | 0.008 | N | 0.253 | neutral | None | None | None | None | N |
| R/L | 0.2101 | likely_benign | 0.1988 | benign | 0.468 | Stabilizing | 0.922 | D | 0.47 | neutral | N | 0.452168091 | None | None | N |
| R/M | 0.2081 | likely_benign | 0.2061 | benign | 0.034 | Stabilizing | 0.998 | D | 0.432 | neutral | None | None | None | None | N |
| R/N | 0.4036 | ambiguous | 0.3703 | ambiguous | 0.106 | Stabilizing | 0.86 | D | 0.433 | neutral | None | None | None | None | N |
| R/P | 0.5719 | likely_pathogenic | 0.477 | ambiguous | 0.35 | Stabilizing | 0.988 | D | 0.48 | neutral | N | 0.470753852 | None | None | N |
| R/Q | 0.0949 | likely_benign | 0.0905 | benign | 0.041 | Stabilizing | 0.989 | D | 0.417 | neutral | N | 0.434331692 | None | None | N |
| R/S | 0.2912 | likely_benign | 0.2755 | benign | -0.161 | Destabilizing | 0.86 | D | 0.481 | neutral | None | None | None | None | N |
| R/T | 0.1433 | likely_benign | 0.1441 | benign | 0.02 | Stabilizing | 0.86 | D | 0.461 | neutral | None | None | None | None | N |
| R/V | 0.3031 | likely_benign | 0.2864 | benign | 0.35 | Stabilizing | 0.956 | D | 0.47 | neutral | None | None | None | None | N |
| R/W | 0.1605 | likely_benign | 0.1547 | benign | -0.361 | Destabilizing | 0.998 | D | 0.553 | neutral | None | None | None | None | N |
| R/Y | 0.3594 | ambiguous | 0.3352 | benign | 0.063 | Stabilizing | 0.993 | D | 0.469 | 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.