Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28473 | 85642;85643;85644 | chr2:178560715;178560714;178560713 | chr2:179425442;179425441;179425440 |
| N2AB | 26832 | 80719;80720;80721 | chr2:178560715;178560714;178560713 | chr2:179425442;179425441;179425440 |
| N2A | 25905 | 77938;77939;77940 | chr2:178560715;178560714;178560713 | chr2:179425442;179425441;179425440 |
| N2B | 19408 | 58447;58448;58449 | chr2:178560715;178560714;178560713 | chr2:179425442;179425441;179425440 |
| Novex-1 | 19533 | 58822;58823;58824 | chr2:178560715;178560714;178560713 | chr2:179425442;179425441;179425440 |
| Novex-2 | 19600 | 59023;59024;59025 | chr2:178560715;178560714;178560713 | chr2:179425442;179425441;179425440 |
| 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/E | rs911764199  |
-1.336 | 0.976 | N | 0.721 | 0.305 | 0.335164054921 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 6.47E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/E | rs911764199 |
-1.336 | 0.976 | N | 0.721 | 0.305 | 0.335164054921 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/E | rs911764199 |
-1.336 | 0.976 | N | 0.721 | 0.305 | 0.335164054921 | gnomAD-4.0.0 | 6.57315E-06 | None | None | None | None | N | None | 2.41348E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | rs779477617 |
-0.762 | 0.976 | N | 0.789 | 0.408 | 0.49179695788 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 0 | 5.8E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/R | rs779477617 |
-0.762 | 0.976 | N | 0.789 | 0.408 | 0.49179695788 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | rs779477617 |
-0.762 | 0.976 | N | 0.789 | 0.408 | 0.49179695788 | gnomAD-4.0.0 | 3.84431E-06 | None | None | None | None | N | None | 1.69239E-05 | 3.39132E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/V | None | None | 0.988 | N | 0.785 | 0.309 | 0.579105583989 | gnomAD-4.0.0 | 1.59166E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85829E-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 | 0.1256 | likely_benign | 0.1182 | benign | -0.413 | Destabilizing | 0.414 | N | 0.402 | neutral | N | 0.467204619 | None | None | N |
| G/C | 0.1748 | likely_benign | 0.1718 | benign | -0.626 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| G/D | 0.2536 | likely_benign | 0.216 | benign | -0.998 | Destabilizing | 0.991 | D | 0.747 | deleterious | None | None | None | None | N |
| G/E | 0.1874 | likely_benign | 0.1586 | benign | -0.926 | Destabilizing | 0.976 | D | 0.721 | prob.delet. | N | 0.420237392 | None | None | N |
| G/F | 0.5375 | ambiguous | 0.5085 | ambiguous | -0.583 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| G/H | 0.344 | ambiguous | 0.3116 | benign | -1.349 | Destabilizing | 0.999 | D | 0.824 | deleterious | None | None | None | None | N |
| G/I | 0.2816 | likely_benign | 0.2602 | benign | 0.368 | Stabilizing | 0.995 | D | 0.852 | deleterious | None | None | None | None | N |
| G/K | 0.2983 | likely_benign | 0.2707 | benign | -0.901 | Destabilizing | 0.982 | D | 0.745 | deleterious | None | None | None | None | N |
| G/L | 0.3216 | likely_benign | 0.3044 | benign | 0.368 | Stabilizing | 0.991 | D | 0.785 | deleterious | None | None | None | None | N |
| G/M | 0.4301 | ambiguous | 0.4059 | ambiguous | 0.178 | Stabilizing | 0.999 | D | 0.847 | deleterious | None | None | None | None | N |
| G/N | 0.2768 | likely_benign | 0.2467 | benign | -0.837 | Destabilizing | 0.991 | D | 0.744 | deleterious | None | None | None | None | N |
| G/P | 0.8817 | likely_pathogenic | 0.8648 | pathogenic | 0.154 | Stabilizing | 0.995 | D | 0.807 | deleterious | None | None | None | None | N |
| G/Q | 0.2519 | likely_benign | 0.2202 | benign | -0.782 | Destabilizing | 0.682 | D | 0.485 | neutral | None | None | None | None | N |
| G/R | 0.2171 | likely_benign | 0.2022 | benign | -0.918 | Destabilizing | 0.976 | D | 0.789 | deleterious | N | 0.432283969 | None | None | N |
| G/S | 0.1069 | likely_benign | 0.1003 | benign | -1.176 | Destabilizing | 0.938 | D | 0.623 | neutral | None | None | None | None | N |
| G/T | 0.187 | likely_benign | 0.1701 | benign | -0.982 | Destabilizing | 0.991 | D | 0.741 | deleterious | None | None | None | None | N |
| G/V | 0.2006 | likely_benign | 0.1846 | benign | 0.154 | Stabilizing | 0.988 | D | 0.785 | deleterious | N | 0.484963661 | None | None | N |
| G/W | 0.369 | ambiguous | 0.3495 | ambiguous | -1.207 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | N |
| G/Y | 0.36 | ambiguous | 0.3458 | ambiguous | -0.597 | Destabilizing | 1.0 | D | 0.852 | deleterious | 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.