Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6036 | 18331;18332;18333 | chr2:178730294;178730293;178730292 | chr2:179595021;179595020;179595019 |
| N2AB | 5719 | 17380;17381;17382 | chr2:178730294;178730293;178730292 | chr2:179595021;179595020;179595019 |
| N2A | 4792 | 14599;14600;14601 | chr2:178730294;178730293;178730292 | chr2:179595021;179595020;179595019 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/C | None | None | 0.013 | N | 0.366 | 0.298 | 0.532696708436 | gnomAD-4.0.0 | 1.59572E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86444E-06 | 0 | 0 |
| G/R | rs1308477986  |
-0.297 | 0.006 | N | 0.299 | 0.257 | 0.426787303895 | gnomAD-2.1.1 | 4.08E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.05E-06 | 0 |
| G/R | rs1308477986 |
-0.297 | 0.006 | N | 0.299 | 0.257 | 0.426787303895 | gnomAD-4.0.0 | 1.59572E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86443E-06 | 0 | 0 |
| G/V | None | None | 0.642 | N | 0.405 | 0.232 | 0.628109234573 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.0793 | likely_benign | 0.0811 | benign | -0.223 | Destabilizing | 0.139 | N | 0.238 | neutral | N | 0.441224032 | None | None | N |
| G/C | 0.1991 | likely_benign | 0.1796 | benign | -0.468 | Destabilizing | 0.013 | N | 0.366 | neutral | N | 0.487671184 | None | None | N |
| G/D | 0.2649 | likely_benign | 0.2702 | benign | -0.326 | Destabilizing | 0.642 | D | 0.341 | neutral | N | 0.42450514 | None | None | N |
| G/E | 0.1882 | likely_benign | 0.1973 | benign | -0.32 | Destabilizing | 0.543 | D | 0.334 | neutral | None | None | None | None | N |
| G/F | 0.4758 | ambiguous | 0.4811 | ambiguous | -0.45 | Destabilizing | 0.981 | D | 0.451 | neutral | None | None | None | None | N |
| G/H | 0.2781 | likely_benign | 0.2868 | benign | -0.928 | Destabilizing | 0.944 | D | 0.384 | neutral | None | None | None | None | N |
| G/I | 0.2336 | likely_benign | 0.2311 | benign | 0.33 | Stabilizing | 0.944 | D | 0.417 | neutral | None | None | None | None | N |
| G/K | 0.2079 | likely_benign | 0.2251 | benign | -0.702 | Destabilizing | 0.007 | N | 0.263 | neutral | None | None | None | None | N |
| G/L | 0.3115 | likely_benign | 0.3214 | benign | 0.33 | Stabilizing | 0.704 | D | 0.369 | neutral | None | None | None | None | N |
| G/M | 0.3434 | ambiguous | 0.3491 | ambiguous | 0.131 | Stabilizing | 0.981 | D | 0.429 | neutral | None | None | None | None | N |
| G/N | 0.2455 | likely_benign | 0.2539 | benign | -0.515 | Destabilizing | 0.704 | D | 0.333 | neutral | None | None | None | None | N |
| G/P | 0.9438 | likely_pathogenic | 0.9533 | pathogenic | 0.19 | Stabilizing | 0.944 | D | 0.395 | neutral | None | None | None | None | N |
| G/Q | 0.2055 | likely_benign | 0.2156 | benign | -0.524 | Destabilizing | 0.893 | D | 0.39 | neutral | None | None | None | None | N |
| G/R | 0.1652 | likely_benign | 0.1736 | benign | -0.64 | Destabilizing | 0.006 | N | 0.299 | neutral | N | 0.413557428 | None | None | N |
| G/S | 0.0806 | likely_benign | 0.0837 | benign | -0.858 | Destabilizing | 0.003 | N | 0.09 | neutral | N | 0.371766733 | None | None | N |
| G/T | 0.1068 | likely_benign | 0.1074 | benign | -0.737 | Destabilizing | 0.543 | D | 0.347 | neutral | None | None | None | None | N |
| G/V | 0.1529 | likely_benign | 0.1522 | benign | 0.19 | Stabilizing | 0.642 | D | 0.405 | neutral | N | 0.44495777 | None | None | N |
| G/W | 0.4037 | ambiguous | 0.4118 | ambiguous | -0.958 | Destabilizing | 0.995 | D | 0.417 | neutral | None | None | None | None | N |
| G/Y | 0.3633 | ambiguous | 0.3677 | ambiguous | -0.402 | Destabilizing | 0.981 | D | 0.452 | 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.