Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 111 | 556;557;558 | chr2:178800647;178800646;178800645 | chr2:179665374;179665373;179665372 |
| N2AB | 111 | 556;557;558 | chr2:178800647;178800646;178800645 | chr2:179665374;179665373;179665372 |
| N2A | 111 | 556;557;558 | chr2:178800647;178800646;178800645 | chr2:179665374;179665373;179665372 |
| N2B | 111 | 556;557;558 | chr2:178800647;178800646;178800645 | chr2:179665374;179665373;179665372 |
| Novex-1 | 111 | 556;557;558 | chr2:178800647;178800646;178800645 | chr2:179665374;179665373;179665372 |
| Novex-2 | 111 | 556;557;558 | chr2:178800647;178800646;178800645 | chr2:179665374;179665373;179665372 |
| Novex-3 | 111 | 556;557;558 | chr2:178800647;178800646;178800645 | chr2:179665374;179665373;179665372 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/R | None | None | 0.985 | N | 0.521 | 0.375 | 0.246215685461 | gnomAD-4.0.0 | 6.85677E-07 | None | None | None | -0.934(TCAP) | N | None | 2.99419E-05 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.4622 | ambiguous | 0.4874 | ambiguous | -0.185 | Destabilizing | 0.997 | D | 0.549 | neutral | None | None | None | -0.106(TCAP) | N |
| Q/C | 0.9632 | likely_pathogenic | 0.9634 | pathogenic | 0.147 | Stabilizing | 0.999 | D | 0.697 | prob.neutral | None | None | None | 0.126(TCAP) | N |
| Q/D | 0.7782 | likely_pathogenic | 0.7836 | pathogenic | 0.008 | Stabilizing | 0.99 | D | 0.528 | neutral | None | None | None | -0.779(TCAP) | N |
| Q/E | 0.1698 | likely_benign | 0.1653 | benign | -0.011 | Destabilizing | 0.978 | D | 0.383 | neutral | N | 0.468000746 | None | -0.771(TCAP) | N |
| Q/F | 0.9476 | likely_pathogenic | 0.9505 | pathogenic | -0.368 | Destabilizing | 0.999 | D | 0.703 | prob.neutral | None | None | None | -0.004(TCAP) | N |
| Q/G | 0.6096 | likely_pathogenic | 0.6279 | pathogenic | -0.381 | Destabilizing | 0.997 | D | 0.532 | neutral | None | None | None | -0.179(TCAP) | N |
| Q/H | 0.6074 | likely_pathogenic | 0.6224 | pathogenic | -0.222 | Destabilizing | 0.997 | D | 0.597 | neutral | D | 0.536339596 | None | 0.01(TCAP) | N |
| Q/I | 0.7882 | likely_pathogenic | 0.781 | pathogenic | 0.244 | Stabilizing | 0.998 | D | 0.715 | prob.delet. | None | None | None | 0.096(TCAP) | N |
| Q/K | 0.2684 | likely_benign | 0.2649 | benign | 0.063 | Stabilizing | 0.99 | D | 0.477 | neutral | N | 0.465660587 | None | -0.81(TCAP) | N |
| Q/L | 0.3991 | ambiguous | 0.41 | ambiguous | 0.244 | Stabilizing | 0.99 | D | 0.532 | neutral | N | 0.506573007 | None | 0.096(TCAP) | N |
| Q/M | 0.7056 | likely_pathogenic | 0.7118 | pathogenic | 0.363 | Stabilizing | 0.998 | D | 0.597 | neutral | None | None | None | 0.838(TCAP) | N |
| Q/N | 0.5993 | likely_pathogenic | 0.62 | pathogenic | -0.242 | Destabilizing | 0.997 | D | 0.577 | neutral | None | None | None | -0.835(TCAP) | N |
| Q/P | 0.675 | likely_pathogenic | 0.6705 | pathogenic | 0.13 | Stabilizing | 0.996 | D | 0.694 | prob.neutral | N | 0.512218389 | None | 0.033(TCAP) | N |
| Q/R | 0.2961 | likely_benign | 0.2855 | benign | 0.223 | Stabilizing | 0.985 | D | 0.521 | neutral | N | 0.496797361 | None | -0.934(TCAP) | N |
| Q/S | 0.4592 | ambiguous | 0.4831 | ambiguous | -0.234 | Destabilizing | 0.997 | D | 0.487 | neutral | None | None | None | -0.961(TCAP) | N |
| Q/T | 0.4424 | ambiguous | 0.4469 | ambiguous | -0.096 | Destabilizing | 0.979 | D | 0.64 | neutral | None | None | None | -0.864(TCAP) | N |
| Q/V | 0.5714 | likely_pathogenic | 0.578 | pathogenic | 0.13 | Stabilizing | 0.993 | D | 0.567 | neutral | None | None | None | 0.033(TCAP) | N |
| Q/W | 0.9484 | likely_pathogenic | 0.9467 | pathogenic | -0.362 | Destabilizing | 1.0 | D | 0.688 | prob.neutral | None | None | None | 0.005(TCAP) | N |
| Q/Y | 0.8788 | likely_pathogenic | 0.8863 | pathogenic | -0.098 | Destabilizing | 0.999 | D | 0.703 | prob.neutral | None | None | None | 0.195(TCAP) | 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.