Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3386 | 10381;10382;10383 | chr2:178759131;178759130;178759129 | chr2:179623858;179623857;179623856 |
| N2AB | 3386 | 10381;10382;10383 | chr2:178759131;178759130;178759129 | chr2:179623858;179623857;179623856 |
| N2A | 3386 | 10381;10382;10383 | chr2:178759131;178759130;178759129 | chr2:179623858;179623857;179623856 |
| N2B | 3340 | 10243;10244;10245 | chr2:178759131;178759130;178759129 | chr2:179623858;179623857;179623856 |
| Novex-1 | 3340 | 10243;10244;10245 | chr2:178759131;178759130;178759129 | chr2:179623858;179623857;179623856 |
| Novex-2 | 3340 | 10243;10244;10245 | chr2:178759131;178759130;178759129 | chr2:179623858;179623857;179623856 |
| Novex-3 | 3386 | 10381;10382;10383 | chr2:178759131;178759130;178759129 | chr2:179623858;179623857;179623856 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/L | rs2088233776  |
None | 0.994 | N | 0.571 | 0.468 | 0.72796072516 | gnomAD-4.0.0 | 1.59082E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85698E-06 | 0 | 0 |
| P/S | None | None | 0.978 | N | 0.391 | 0.409 | 0.32053947749 | gnomAD-4.0.0 | 1.59081E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.857E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.1013 | likely_benign | 0.1123 | benign | -0.441 | Destabilizing | 0.978 | D | 0.361 | neutral | N | 0.507573053 | None | None | N |
| P/C | 0.818 | likely_pathogenic | 0.8068 | pathogenic | -0.589 | Destabilizing | 1.0 | D | 0.649 | neutral | None | None | None | None | N |
| P/D | 0.5302 | ambiguous | 0.6035 | pathogenic | -0.438 | Destabilizing | 0.983 | D | 0.379 | neutral | None | None | None | None | N |
| P/E | 0.3452 | ambiguous | 0.3698 | ambiguous | -0.546 | Destabilizing | 0.967 | D | 0.37 | neutral | None | None | None | None | N |
| P/F | 0.7346 | likely_pathogenic | 0.7659 | pathogenic | -0.684 | Destabilizing | 1.0 | D | 0.649 | neutral | None | None | None | None | N |
| P/G | 0.4703 | ambiguous | 0.5176 | ambiguous | -0.569 | Destabilizing | 0.992 | D | 0.439 | neutral | None | None | None | None | N |
| P/H | 0.3227 | likely_benign | 0.3616 | ambiguous | -0.162 | Destabilizing | 0.999 | D | 0.59 | neutral | None | None | None | None | N |
| P/I | 0.5397 | ambiguous | 0.5574 | ambiguous | -0.25 | Destabilizing | 0.999 | D | 0.669 | neutral | None | None | None | None | N |
| P/K | 0.4593 | ambiguous | 0.4996 | ambiguous | -0.478 | Destabilizing | 0.967 | D | 0.392 | neutral | None | None | None | None | N |
| P/L | 0.2061 | likely_benign | 0.2089 | benign | -0.25 | Destabilizing | 0.994 | D | 0.571 | neutral | N | 0.513098491 | None | None | N |
| P/M | 0.5332 | ambiguous | 0.5252 | ambiguous | -0.393 | Destabilizing | 1.0 | D | 0.59 | neutral | None | None | None | None | N |
| P/N | 0.456 | ambiguous | 0.5185 | ambiguous | -0.207 | Destabilizing | 0.998 | D | 0.585 | neutral | None | None | None | None | N |
| P/Q | 0.226 | likely_benign | 0.2348 | benign | -0.439 | Destabilizing | 0.63 | D | 0.269 | neutral | N | 0.4920411 | None | None | N |
| P/R | 0.2976 | likely_benign | 0.3236 | benign | 0.028 | Stabilizing | 0.994 | D | 0.519 | neutral | N | 0.510760964 | None | None | N |
| P/S | 0.1716 | likely_benign | 0.202 | benign | -0.52 | Destabilizing | 0.978 | D | 0.391 | neutral | N | 0.489869743 | None | None | N |
| P/T | 0.1604 | likely_benign | 0.1799 | benign | -0.529 | Destabilizing | 0.989 | D | 0.386 | neutral | N | 0.506588735 | None | None | N |
| P/V | 0.3655 | ambiguous | 0.3781 | ambiguous | -0.28 | Destabilizing | 0.998 | D | 0.489 | neutral | None | None | None | None | N |
| P/W | 0.8411 | likely_pathogenic | 0.8418 | pathogenic | -0.781 | Destabilizing | 1.0 | D | 0.647 | neutral | None | None | None | None | N |
| P/Y | 0.635 | likely_pathogenic | 0.6679 | pathogenic | -0.482 | Destabilizing | 0.999 | D | 0.661 | 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.