Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20617 | 62074;62075;62076 | chr2:178589876;178589875;178589874 | chr2:179454603;179454602;179454601 |
| N2AB | 18976 | 57151;57152;57153 | chr2:178589876;178589875;178589874 | chr2:179454603;179454602;179454601 |
| N2A | 18049 | 54370;54371;54372 | chr2:178589876;178589875;178589874 | chr2:179454603;179454602;179454601 |
| N2B | 11552 | 34879;34880;34881 | chr2:178589876;178589875;178589874 | chr2:179454603;179454602;179454601 |
| Novex-1 | 11677 | 35254;35255;35256 | chr2:178589876;178589875;178589874 | chr2:179454603;179454602;179454601 |
| Novex-2 | 11744 | 35455;35456;35457 | chr2:178589876;178589875;178589874 | chr2:179454603;179454602;179454601 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/P | rs1243949460  |
0.098 | 0.984 | N | 0.487 | 0.3 | 0.391775403332 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| S/P | rs1243949460 |
0.098 | 0.984 | N | 0.487 | 0.3 | 0.391775403332 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.93949E-04 | None | 0 | 0 | 0 | 0 | 0 |
| S/P | rs1243949460 |
0.098 | 0.984 | N | 0.487 | 0.3 | 0.391775403332 | gnomAD-4.0.0 | 3.84534E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 4.86547E-05 | None | 0 | 0 | 0 | 1.3403E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1038 | likely_benign | 0.1061 | benign | -0.524 | Destabilizing | 0.103 | N | 0.156 | neutral | N | 0.470284997 | None | None | N |
| S/C | 0.1479 | likely_benign | 0.1411 | benign | -0.261 | Destabilizing | 0.999 | D | 0.513 | neutral | None | None | None | None | N |
| S/D | 0.6807 | likely_pathogenic | 0.6269 | pathogenic | 0.396 | Stabilizing | 0.851 | D | 0.404 | neutral | None | None | None | None | N |
| S/E | 0.6972 | likely_pathogenic | 0.618 | pathogenic | 0.433 | Stabilizing | 0.919 | D | 0.407 | neutral | None | None | None | None | N |
| S/F | 0.365 | ambiguous | 0.3371 | benign | -0.641 | Destabilizing | 0.952 | D | 0.529 | neutral | None | None | None | None | N |
| S/G | 0.1812 | likely_benign | 0.1883 | benign | -0.786 | Destabilizing | 0.702 | D | 0.425 | neutral | None | None | None | None | N |
| S/H | 0.4758 | ambiguous | 0.4161 | ambiguous | -1.024 | Destabilizing | 0.976 | D | 0.519 | neutral | None | None | None | None | N |
| S/I | 0.2775 | likely_benign | 0.2607 | benign | 0.074 | Stabilizing | 0.976 | D | 0.522 | neutral | None | None | None | None | N |
| S/K | 0.8698 | likely_pathogenic | 0.8168 | pathogenic | -0.138 | Destabilizing | 0.919 | D | 0.401 | neutral | None | None | None | None | N |
| S/L | 0.176 | likely_benign | 0.1706 | benign | 0.074 | Stabilizing | 0.811 | D | 0.471 | neutral | N | 0.468631558 | None | None | N |
| S/M | 0.2193 | likely_benign | 0.2089 | benign | 0.002 | Stabilizing | 0.999 | D | 0.512 | neutral | None | None | None | None | N |
| S/N | 0.1745 | likely_benign | 0.172 | benign | -0.238 | Destabilizing | 0.132 | N | 0.233 | neutral | None | None | None | None | N |
| S/P | 0.9509 | likely_pathogenic | 0.9332 | pathogenic | -0.092 | Destabilizing | 0.984 | D | 0.487 | neutral | N | 0.470901485 | None | None | N |
| S/Q | 0.5746 | likely_pathogenic | 0.5125 | ambiguous | -0.264 | Destabilizing | 0.988 | D | 0.469 | neutral | None | None | None | None | N |
| S/R | 0.8418 | likely_pathogenic | 0.7716 | pathogenic | -0.129 | Destabilizing | 0.988 | D | 0.467 | neutral | None | None | None | None | N |
| S/T | 0.0953 | likely_benign | 0.0996 | benign | -0.27 | Destabilizing | 0.896 | D | 0.428 | neutral | N | 0.426782149 | None | None | N |
| S/V | 0.2373 | likely_benign | 0.2258 | benign | -0.092 | Destabilizing | 0.919 | D | 0.459 | neutral | None | None | None | None | N |
| S/W | 0.614 | likely_pathogenic | 0.5439 | ambiguous | -0.676 | Destabilizing | 0.997 | D | 0.619 | neutral | None | None | None | None | N |
| S/Y | 0.3032 | likely_benign | 0.2605 | benign | -0.339 | Destabilizing | 0.076 | N | 0.355 | 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.