Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32228 | 96907;96908;96909 | chr2:178543291;178543290;178543289 | chr2:179408018;179408017;179408016 |
| N2AB | 30587 | 91984;91985;91986 | chr2:178543291;178543290;178543289 | chr2:179408018;179408017;179408016 |
| N2A | 29660 | 89203;89204;89205 | chr2:178543291;178543290;178543289 | chr2:179408018;179408017;179408016 |
| N2B | 23163 | 69712;69713;69714 | chr2:178543291;178543290;178543289 | chr2:179408018;179408017;179408016 |
| Novex-1 | 23288 | 70087;70088;70089 | chr2:178543291;178543290;178543289 | chr2:179408018;179408017;179408016 |
| Novex-2 | 23355 | 70288;70289;70290 | chr2:178543291;178543290;178543289 | chr2:179408018;179408017;179408016 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/D | None | None | 0.801 | N | 0.391 | 0.279 | 0.535774538982 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| Y/H | None | None | 0.002 | N | 0.078 | 0.126 | 0.207176502487 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| Y/N | rs1277957429  |
-0.017 | 0.801 | N | 0.415 | 0.237 | 0.448597761117 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | I | None | 1.1489E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| Y/N | rs1277957429 |
-0.017 | 0.801 | N | 0.415 | 0.237 | 0.448597761117 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Y/N | rs1277957429 |
-0.017 | 0.801 | N | 0.415 | 0.237 | 0.448597761117 | gnomAD-4.0.0 | 6.57601E-06 | None | None | None | None | I | None | 2.41429E-05 | 0 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.5087 | ambiguous | 0.4469 | ambiguous | -0.93 | Destabilizing | 0.842 | D | 0.375 | neutral | None | None | None | None | I |
| Y/C | 0.1514 | likely_benign | 0.1368 | benign | -0.107 | Destabilizing | 0.997 | D | 0.331 | neutral | N | 0.471996987 | None | None | I |
| Y/D | 0.34 | ambiguous | 0.2899 | benign | 0.807 | Stabilizing | 0.801 | D | 0.391 | neutral | N | 0.453059099 | None | None | I |
| Y/E | 0.644 | likely_pathogenic | 0.5906 | pathogenic | 0.805 | Stabilizing | 0.842 | D | 0.409 | neutral | None | None | None | None | I |
| Y/F | 0.1048 | likely_benign | 0.0948 | benign | -0.412 | Destabilizing | 0.891 | D | 0.343 | neutral | N | 0.481920569 | None | None | I |
| Y/G | 0.3779 | ambiguous | 0.3695 | ambiguous | -1.14 | Destabilizing | 0.842 | D | 0.427 | neutral | None | None | None | None | I |
| Y/H | 0.0833 | likely_benign | 0.0861 | benign | 0.082 | Stabilizing | 0.002 | N | 0.078 | neutral | N | 0.438649794 | None | None | I |
| Y/I | 0.6273 | likely_pathogenic | 0.5147 | ambiguous | -0.385 | Destabilizing | 0.974 | D | 0.333 | neutral | None | None | None | None | I |
| Y/K | 0.5696 | likely_pathogenic | 0.556 | ambiguous | -0.046 | Destabilizing | 0.842 | D | 0.409 | neutral | None | None | None | None | I |
| Y/L | 0.4919 | ambiguous | 0.4176 | ambiguous | -0.385 | Destabilizing | 0.842 | D | 0.345 | neutral | None | None | None | None | I |
| Y/M | 0.6714 | likely_pathogenic | 0.604 | pathogenic | -0.233 | Destabilizing | 0.991 | D | 0.302 | neutral | None | None | None | None | I |
| Y/N | 0.1436 | likely_benign | 0.1306 | benign | -0.288 | Destabilizing | 0.801 | D | 0.415 | neutral | N | 0.476205318 | None | None | I |
| Y/P | 0.8816 | likely_pathogenic | 0.8643 | pathogenic | -0.549 | Destabilizing | 0.991 | D | 0.383 | neutral | None | None | None | None | I |
| Y/Q | 0.393 | ambiguous | 0.3641 | ambiguous | -0.222 | Destabilizing | 0.949 | D | 0.343 | neutral | None | None | None | None | I |
| Y/R | 0.3189 | likely_benign | 0.3227 | benign | 0.25 | Stabilizing | 0.842 | D | 0.381 | neutral | None | None | None | None | I |
| Y/S | 0.1719 | likely_benign | 0.1546 | benign | -0.758 | Destabilizing | 0.801 | D | 0.407 | neutral | N | 0.475858601 | None | None | I |
| Y/T | 0.4306 | ambiguous | 0.3648 | ambiguous | -0.669 | Destabilizing | 0.915 | D | 0.385 | neutral | None | None | None | None | I |
| Y/V | 0.4931 | ambiguous | 0.4092 | ambiguous | -0.549 | Destabilizing | 0.915 | D | 0.369 | neutral | None | None | None | None | I |
| Y/W | 0.3841 | ambiguous | 0.3743 | ambiguous | -0.449 | Destabilizing | 0.991 | D | 0.321 | neutral | None | None | None | None | I |
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.