Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33639 | 101140;101141;101142 | chr2:178535700;178535699;178535698 | chr2:179400427;179400426;179400425 |
| N2AB | 31998 | 96217;96218;96219 | chr2:178535700;178535699;178535698 | chr2:179400427;179400426;179400425 |
| N2A | 31071 | 93436;93437;93438 | chr2:178535700;178535699;178535698 | chr2:179400427;179400426;179400425 |
| N2B | 24574 | 73945;73946;73947 | chr2:178535700;178535699;178535698 | chr2:179400427;179400426;179400425 |
| Novex-1 | 24699 | 74320;74321;74322 | chr2:178535700;178535699;178535698 | chr2:179400427;179400426;179400425 |
| Novex-2 | 24766 | 74521;74522;74523 | chr2:178535700;178535699;178535698 | chr2:179400427;179400426;179400425 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/Y | rs752173646  |
-0.56 | 0.995 | N | 0.382 | 0.317 | 0.409665357357 | gnomAD-2.1.1 | 1.79E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 1.59974E-04 | 7.82E-06 | 0 |
| N/Y | rs752173646 |
-0.56 | 0.995 | N | 0.382 | 0.317 | 0.409665357357 | gnomAD-3.1.2 | 3.94E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 4.70898E-04 | 0 | 1.47E-05 | 0 | 0 |
| N/Y | rs752173646 |
-0.56 | 0.995 | N | 0.382 | 0.317 | 0.409665357357 | gnomAD-4.0.0 | 1.2811E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.09859E-04 | 0 | 4.78611E-06 | 0 | 2.84446E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.4421 | ambiguous | 0.331 | benign | -0.504 | Destabilizing | 0.058 | N | 0.278 | neutral | None | None | None | None | N |
| N/C | 0.508 | ambiguous | 0.4003 | ambiguous | 0.268 | Stabilizing | 0.996 | D | 0.436 | neutral | None | None | None | None | N |
| N/D | 0.227 | likely_benign | 0.1483 | benign | 0.212 | Stabilizing | 0.002 | N | 0.241 | neutral | N | 0.471540499 | None | None | N |
| N/E | 0.7227 | likely_pathogenic | 0.5551 | ambiguous | 0.207 | Stabilizing | 0.389 | N | 0.303 | neutral | None | None | None | None | N |
| N/F | 0.8434 | likely_pathogenic | 0.7706 | pathogenic | -0.807 | Destabilizing | 0.996 | D | 0.423 | neutral | None | None | None | None | N |
| N/G | 0.4525 | ambiguous | 0.3401 | ambiguous | -0.709 | Destabilizing | 0.762 | D | 0.359 | neutral | None | None | None | None | N |
| N/H | 0.215 | likely_benign | 0.1619 | benign | -0.678 | Destabilizing | 0.986 | D | 0.323 | neutral | N | 0.510851035 | None | None | N |
| N/I | 0.6159 | likely_pathogenic | 0.48 | ambiguous | -0.04 | Destabilizing | 0.959 | D | 0.426 | neutral | N | 0.461238749 | None | None | N |
| N/K | 0.6899 | likely_pathogenic | 0.4753 | ambiguous | 0.059 | Stabilizing | 0.897 | D | 0.292 | neutral | N | 0.493379995 | None | None | N |
| N/L | 0.5146 | ambiguous | 0.3993 | ambiguous | -0.04 | Destabilizing | 0.897 | D | 0.401 | neutral | None | None | None | None | N |
| N/M | 0.6698 | likely_pathogenic | 0.5515 | ambiguous | 0.26 | Stabilizing | 0.997 | D | 0.376 | neutral | None | None | None | None | N |
| N/P | 0.8669 | likely_pathogenic | 0.8085 | pathogenic | -0.167 | Destabilizing | 0.868 | D | 0.371 | neutral | None | None | None | None | N |
| N/Q | 0.5992 | likely_pathogenic | 0.4501 | ambiguous | -0.384 | Destabilizing | 0.968 | D | 0.313 | neutral | None | None | None | None | N |
| N/R | 0.6584 | likely_pathogenic | 0.4844 | ambiguous | 0.067 | Stabilizing | 0.988 | D | 0.303 | neutral | None | None | None | None | N |
| N/S | 0.1005 | likely_benign | 0.0857 | benign | -0.264 | Destabilizing | 0.011 | N | 0.205 | neutral | N | 0.432904753 | None | None | N |
| N/T | 0.2116 | likely_benign | 0.1512 | benign | -0.105 | Destabilizing | 0.351 | N | 0.305 | neutral | N | 0.490782407 | None | None | N |
| N/V | 0.5603 | ambiguous | 0.4412 | ambiguous | -0.167 | Destabilizing | 0.72 | D | 0.404 | neutral | None | None | None | None | N |
| N/W | 0.9396 | likely_pathogenic | 0.9056 | pathogenic | -0.758 | Destabilizing | 0.999 | D | 0.557 | neutral | None | None | None | None | N |
| N/Y | 0.4712 | ambiguous | 0.3627 | ambiguous | -0.501 | Destabilizing | 0.995 | D | 0.382 | neutral | N | 0.479343004 | 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.