Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3398 | 10417;10418;10419 | chr2:178759095;178759094;178759093 | chr2:179623822;179623821;179623820 |
| N2AB | 3398 | 10417;10418;10419 | chr2:178759095;178759094;178759093 | chr2:179623822;179623821;179623820 |
| N2A | 3398 | 10417;10418;10419 | chr2:178759095;178759094;178759093 | chr2:179623822;179623821;179623820 |
| N2B | 3352 | 10279;10280;10281 | chr2:178759095;178759094;178759093 | chr2:179623822;179623821;179623820 |
| Novex-1 | 3352 | 10279;10280;10281 | chr2:178759095;178759094;178759093 | chr2:179623822;179623821;179623820 |
| Novex-2 | 3352 | 10279;10280;10281 | chr2:178759095;178759094;178759093 | chr2:179623822;179623821;179623820 |
| Novex-3 | 3398 | 10417;10418;10419 | chr2:178759095;178759094;178759093 | chr2:179623822;179623821;179623820 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | rs2088221144  |
None | 0.704 | N | 0.395 | 0.554 | 0.346768085243 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/A | rs2088221144 |
None | 0.704 | N | 0.395 | 0.554 | 0.346768085243 | gnomAD-4.0.0 | 6.5697E-06 | None | None | None | None | N | None | 0 | 6.54536E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.11 | likely_benign | 0.114 | benign | -1.039 | Destabilizing | 0.704 | D | 0.395 | neutral | N | 0.512243175 | None | None | N |
| T/C | 0.5682 | likely_pathogenic | 0.5212 | ambiguous | -0.849 | Destabilizing | 0.999 | D | 0.478 | neutral | None | None | None | None | N |
| T/D | 0.4605 | ambiguous | 0.4905 | ambiguous | -1.533 | Destabilizing | 0.884 | D | 0.447 | neutral | None | None | None | None | N |
| T/E | 0.3973 | ambiguous | 0.4555 | ambiguous | -1.406 | Destabilizing | 0.939 | D | 0.447 | neutral | None | None | None | None | N |
| T/F | 0.3672 | ambiguous | 0.3658 | ambiguous | -0.715 | Destabilizing | 0.982 | D | 0.543 | neutral | None | None | None | None | N |
| T/G | 0.391 | ambiguous | 0.3748 | ambiguous | -1.401 | Destabilizing | 0.863 | D | 0.482 | neutral | None | None | None | None | N |
| T/H | 0.3275 | likely_benign | 0.3519 | ambiguous | -1.643 | Destabilizing | 0.991 | D | 0.518 | neutral | None | None | None | None | N |
| T/I | 0.1817 | likely_benign | 0.1891 | benign | -0.12 | Destabilizing | 0.852 | D | 0.445 | neutral | N | 0.495287295 | None | None | N |
| T/K | 0.321 | likely_benign | 0.3803 | ambiguous | -0.937 | Destabilizing | 0.939 | D | 0.451 | neutral | None | None | None | None | N |
| T/L | 0.1569 | likely_benign | 0.1658 | benign | -0.12 | Destabilizing | 0.759 | D | 0.437 | neutral | None | None | None | None | N |
| T/M | 0.136 | likely_benign | 0.13 | benign | -0.04 | Destabilizing | 0.579 | D | 0.38 | neutral | None | None | None | None | N |
| T/N | 0.1614 | likely_benign | 0.1615 | benign | -1.357 | Destabilizing | 0.134 | N | 0.31 | neutral | N | 0.488243912 | None | None | N |
| T/P | 0.7242 | likely_pathogenic | 0.7724 | pathogenic | -0.395 | Destabilizing | 0.988 | D | 0.481 | neutral | D | 0.5423755 | None | None | N |
| T/Q | 0.3362 | likely_benign | 0.3726 | ambiguous | -1.287 | Destabilizing | 0.991 | D | 0.482 | neutral | None | None | None | None | N |
| T/R | 0.228 | likely_benign | 0.2635 | benign | -0.956 | Destabilizing | 0.991 | D | 0.467 | neutral | None | None | None | None | N |
| T/S | 0.1499 | likely_benign | 0.1382 | benign | -1.492 | Destabilizing | 0.159 | N | 0.103 | neutral | N | 0.492165394 | None | None | N |
| T/V | 0.1756 | likely_benign | 0.1751 | benign | -0.395 | Destabilizing | 0.884 | D | 0.394 | neutral | None | None | None | None | N |
| T/W | 0.7592 | likely_pathogenic | 0.7495 | pathogenic | -0.849 | Destabilizing | 0.999 | D | 0.543 | neutral | None | None | None | None | N |
| T/Y | 0.3935 | ambiguous | 0.3969 | ambiguous | -0.525 | Destabilizing | 0.997 | D | 0.549 | 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.