Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7841 | 23746;23747;23748 | chr2:178720121;178720120;178720119 | chr2:179584848;179584847;179584846 |
| N2AB | 7524 | 22795;22796;22797 | chr2:178720121;178720120;178720119 | chr2:179584848;179584847;179584846 |
| N2A | 6597 | 20014;20015;20016 | chr2:178720121;178720120;178720119 | chr2:179584848;179584847;179584846 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/D | rs753072306  |
0.068 | 0.256 | N | 0.423 | 0.11 | 0.166414681773 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| N/Y | rs753072306 |
-0.666 | 0.997 | N | 0.491 | 0.436 | 0.228597637076 | gnomAD-2.1.1 | 2.5E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 3.58643E-04 | None | 0 | None | 0 | 0 | 0 |
| N/Y | rs753072306 |
-0.666 | 0.997 | N | 0.491 | 0.436 | 0.228597637076 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.92456E-04 | None | 0 | 0 | 0 | 0 | 0 |
| N/Y | rs753072306 |
-0.666 | 0.997 | N | 0.491 | 0.436 | 0.228597637076 | gnomAD-4.0.0 | 7.43641E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.45043E-04 | None | 0 | 0 | 0 | 0 | 1.60123E-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 | 0.3024 | likely_benign | 0.2812 | benign | -0.659 | Destabilizing | 0.16 | N | 0.423 | neutral | None | None | None | None | N |
| N/C | 0.5196 | ambiguous | 0.4778 | ambiguous | 0.242 | Stabilizing | 0.998 | D | 0.552 | neutral | None | None | None | None | N |
| N/D | 0.1438 | likely_benign | 0.1368 | benign | -0.231 | Destabilizing | 0.256 | N | 0.423 | neutral | N | 0.479565336 | None | None | N |
| N/E | 0.3725 | ambiguous | 0.3557 | ambiguous | -0.258 | Destabilizing | 0.432 | N | 0.409 | neutral | None | None | None | None | N |
| N/F | 0.5787 | likely_pathogenic | 0.5431 | ambiguous | -1.016 | Destabilizing | 0.998 | D | 0.532 | neutral | None | None | None | None | N |
| N/G | 0.3214 | likely_benign | 0.2956 | benign | -0.839 | Destabilizing | 0.831 | D | 0.371 | neutral | None | None | None | None | N |
| N/H | 0.1442 | likely_benign | 0.1534 | benign | -0.954 | Destabilizing | 0.967 | D | 0.426 | neutral | N | 0.494553431 | None | None | N |
| N/I | 0.2712 | likely_benign | 0.2625 | benign | -0.261 | Destabilizing | 0.189 | N | 0.314 | neutral | N | 0.463503247 | None | None | N |
| N/K | 0.2754 | likely_benign | 0.2715 | benign | 0.034 | Stabilizing | 0.985 | D | 0.412 | neutral | N | 0.47667696 | None | None | N |
| N/L | 0.3458 | ambiguous | 0.3317 | benign | -0.261 | Destabilizing | 0.92 | D | 0.462 | neutral | None | None | None | None | N |
| N/M | 0.3648 | ambiguous | 0.351 | ambiguous | 0.399 | Stabilizing | 0.998 | D | 0.49 | neutral | None | None | None | None | N |
| N/P | 0.8126 | likely_pathogenic | 0.7837 | pathogenic | -0.369 | Destabilizing | 0.804 | D | 0.487 | neutral | None | None | None | None | N |
| N/Q | 0.3565 | ambiguous | 0.3509 | ambiguous | -0.583 | Destabilizing | 0.882 | D | 0.406 | neutral | None | None | None | None | N |
| N/R | 0.3676 | ambiguous | 0.3468 | ambiguous | 0.127 | Stabilizing | 0.952 | D | 0.408 | neutral | None | None | None | None | N |
| N/S | 0.1355 | likely_benign | 0.1272 | benign | -0.288 | Destabilizing | 0.003 | N | 0.217 | neutral | N | 0.504615709 | None | None | N |
| N/T | 0.1525 | likely_benign | 0.1475 | benign | -0.169 | Destabilizing | 0.406 | N | 0.37 | neutral | N | 0.471301154 | None | None | N |
| N/V | 0.3085 | likely_benign | 0.2901 | benign | -0.369 | Destabilizing | 0.492 | N | 0.449 | neutral | None | None | None | None | N |
| N/W | 0.8095 | likely_pathogenic | 0.786 | pathogenic | -0.893 | Destabilizing | 1.0 | D | 0.628 | neutral | None | None | None | None | N |
| N/Y | 0.1853 | likely_benign | 0.1811 | benign | -0.654 | Destabilizing | 0.997 | D | 0.491 | neutral | N | 0.456919882 | 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.