Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17619 | 53080;53081;53082 | chr2:178607932;178607931;178607930 | chr2:179472659;179472658;179472657 |
| N2AB | 15978 | 48157;48158;48159 | chr2:178607932;178607931;178607930 | chr2:179472659;179472658;179472657 |
| N2A | 15051 | 45376;45377;45378 | chr2:178607932;178607931;178607930 | chr2:179472659;179472658;179472657 |
| N2B | 8554 | 25885;25886;25887 | chr2:178607932;178607931;178607930 | chr2:179472659;179472658;179472657 |
| Novex-1 | 8679 | 26260;26261;26262 | chr2:178607932;178607931;178607930 | chr2:179472659;179472658;179472657 |
| Novex-2 | 8746 | 26461;26462;26463 | chr2:178607932;178607931;178607930 | chr2:179472659;179472658;179472657 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/R | rs2055315972  |
None | 0.988 | N | 0.614 | 0.386 | 0.70392570768 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| C/R | rs2055315972 |
None | 0.988 | N | 0.614 | 0.386 | 0.70392570768 | gnomAD-4.0.0 | 6.58172E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47228E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.5639 | ambiguous | 0.5594 | ambiguous | -1.954 | Destabilizing | 0.079 | N | 0.203 | neutral | None | None | None | None | N |
| C/D | 0.9619 | likely_pathogenic | 0.9432 | pathogenic | -0.387 | Destabilizing | 0.939 | D | 0.6 | neutral | None | None | None | None | N |
| C/E | 0.9799 | likely_pathogenic | 0.9682 | pathogenic | -0.293 | Destabilizing | 0.939 | D | 0.604 | neutral | None | None | None | None | N |
| C/F | 0.6543 | likely_pathogenic | 0.5635 | ambiguous | -1.348 | Destabilizing | 0.996 | D | 0.587 | neutral | N | 0.510906963 | None | None | N |
| C/G | 0.518 | ambiguous | 0.4732 | ambiguous | -2.252 | Highly Destabilizing | 0.704 | D | 0.596 | neutral | N | 0.451564284 | None | None | N |
| C/H | 0.9256 | likely_pathogenic | 0.8892 | pathogenic | -2.08 | Highly Destabilizing | 0.999 | D | 0.576 | neutral | None | None | None | None | N |
| C/I | 0.682 | likely_pathogenic | 0.6082 | pathogenic | -1.188 | Destabilizing | 0.969 | D | 0.573 | neutral | None | None | None | None | N |
| C/K | 0.99 | likely_pathogenic | 0.9827 | pathogenic | -1.056 | Destabilizing | 0.939 | D | 0.589 | neutral | None | None | None | None | N |
| C/L | 0.7467 | likely_pathogenic | 0.6825 | pathogenic | -1.188 | Destabilizing | 0.863 | D | 0.553 | neutral | None | None | None | None | N |
| C/M | 0.8618 | likely_pathogenic | 0.8206 | pathogenic | -0.179 | Destabilizing | 0.997 | D | 0.557 | neutral | None | None | None | None | N |
| C/N | 0.8624 | likely_pathogenic | 0.8204 | pathogenic | -1.037 | Destabilizing | 0.939 | D | 0.599 | neutral | None | None | None | None | N |
| C/P | 0.977 | likely_pathogenic | 0.9765 | pathogenic | -1.419 | Destabilizing | 0.991 | D | 0.618 | neutral | None | None | None | None | N |
| C/Q | 0.9521 | likely_pathogenic | 0.9261 | pathogenic | -0.965 | Destabilizing | 0.991 | D | 0.595 | neutral | None | None | None | None | N |
| C/R | 0.9457 | likely_pathogenic | 0.9114 | pathogenic | -0.806 | Destabilizing | 0.988 | D | 0.614 | neutral | N | 0.480517865 | None | None | N |
| C/S | 0.5104 | ambiguous | 0.4709 | ambiguous | -1.624 | Destabilizing | 0.159 | N | 0.357 | neutral | N | 0.468982983 | None | None | N |
| C/T | 0.7212 | likely_pathogenic | 0.6728 | pathogenic | -1.344 | Destabilizing | 0.759 | D | 0.553 | neutral | None | None | None | None | N |
| C/V | 0.5236 | ambiguous | 0.4835 | ambiguous | -1.419 | Destabilizing | 0.939 | D | 0.561 | neutral | None | None | None | None | N |
| C/W | 0.9242 | likely_pathogenic | 0.8781 | pathogenic | -1.26 | Destabilizing | 0.999 | D | 0.572 | neutral | N | 0.481278334 | None | None | N |
| C/Y | 0.8142 | likely_pathogenic | 0.7369 | pathogenic | -1.296 | Destabilizing | 0.996 | D | 0.578 | neutral | N | 0.46890807 | 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.