Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3162 | 9709;9710;9711 | chr2:178766600;178766599;178766598 | chr2:179631327;179631326;179631325 |
| N2AB | 3162 | 9709;9710;9711 | chr2:178766600;178766599;178766598 | chr2:179631327;179631326;179631325 |
| N2A | 3162 | 9709;9710;9711 | chr2:178766600;178766599;178766598 | chr2:179631327;179631326;179631325 |
| N2B | 3116 | 9571;9572;9573 | chr2:178766600;178766599;178766598 | chr2:179631327;179631326;179631325 |
| Novex-1 | 3116 | 9571;9572;9573 | chr2:178766600;178766599;178766598 | chr2:179631327;179631326;179631325 |
| Novex-2 | 3116 | 9571;9572;9573 | chr2:178766600;178766599;178766598 | chr2:179631327;179631326;179631325 |
| Novex-3 | 3162 | 9709;9710;9711 | chr2:178766600;178766599;178766598 | chr2:179631327;179631326;179631325 |
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/K | None | None | 0.99 | N | 0.435 | 0.314 | 0.101711395817 | gnomAD-4.0.0 | 6.00442E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.2524E-06 | 0 | 3.66542E-05 |
| Q/R | rs727503681  |
0.014 | 0.98 | N | 0.446 | 0.245 | None | gnomAD-2.1.1 | 3.03519E-04 | None | None | None | None | N | None | 0 | 0 | None | 0 | 4.0393E-03 | None | 3.27E-05 | None | 0 | 8.85E-06 | 0 |
| Q/R | rs727503681 |
0.014 | 0.98 | N | 0.446 | 0.245 | None | gnomAD-3.1.2 | 5.26E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.34615E-03 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| Q/R | rs727503681 |
0.014 | 0.98 | N | 0.446 | 0.245 | None | gnomAD-4.0.0 | 8.7387E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 3.01084E-03 | None | 0 | 0 | 2.543E-06 | 1.09798E-05 | 3.20143E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.5561 | ambiguous | 0.648 | pathogenic | -0.384 | Destabilizing | 0.993 | D | 0.407 | neutral | None | None | None | None | N |
| Q/C | 0.9206 | likely_pathogenic | 0.9675 | pathogenic | 0.084 | Stabilizing | 1.0 | D | 0.671 | neutral | None | None | None | None | N |
| Q/D | 0.6784 | likely_pathogenic | 0.7429 | pathogenic | -0.056 | Destabilizing | 0.993 | D | 0.366 | neutral | None | None | None | None | N |
| Q/E | 0.1232 | likely_benign | 0.1482 | benign | -0.022 | Destabilizing | 0.953 | D | 0.424 | neutral | N | 0.341535404 | None | None | N |
| Q/F | 0.9415 | likely_pathogenic | 0.9605 | pathogenic | -0.268 | Destabilizing | 0.998 | D | 0.615 | neutral | None | None | None | None | N |
| Q/G | 0.5107 | ambiguous | 0.6113 | pathogenic | -0.667 | Destabilizing | 0.993 | D | 0.516 | neutral | None | None | None | None | N |
| Q/H | 0.5264 | ambiguous | 0.6233 | pathogenic | -0.487 | Destabilizing | 0.135 | N | 0.222 | neutral | N | 0.326445449 | None | None | N |
| Q/I | 0.8389 | likely_pathogenic | 0.9231 | pathogenic | 0.297 | Stabilizing | 0.999 | D | 0.613 | neutral | None | None | None | None | N |
| Q/K | 0.1884 | likely_benign | 0.3295 | benign | -0.131 | Destabilizing | 0.99 | D | 0.435 | neutral | N | 0.342843414 | None | None | N |
| Q/L | 0.4504 | ambiguous | 0.6085 | pathogenic | 0.297 | Stabilizing | 0.99 | D | 0.493 | neutral | N | 0.387859351 | None | None | N |
| Q/M | 0.6664 | likely_pathogenic | 0.7413 | pathogenic | 0.563 | Stabilizing | 0.999 | D | 0.387 | neutral | None | None | None | None | N |
| Q/N | 0.495 | ambiguous | 0.5177 | ambiguous | -0.599 | Destabilizing | 0.985 | D | 0.401 | neutral | None | None | None | None | N |
| Q/P | 0.8966 | likely_pathogenic | 0.9729 | pathogenic | 0.101 | Stabilizing | 0.999 | D | 0.451 | neutral | N | 0.387591802 | None | None | N |
| Q/R | 0.2528 | likely_benign | 0.4426 | ambiguous | -0.006 | Destabilizing | 0.98 | D | 0.446 | neutral | N | 0.325407609 | None | None | N |
| Q/S | 0.5436 | ambiguous | 0.5729 | pathogenic | -0.64 | Destabilizing | 0.993 | D | 0.378 | neutral | None | None | None | None | N |
| Q/T | 0.53 | ambiguous | 0.6279 | pathogenic | -0.426 | Destabilizing | 0.998 | D | 0.432 | neutral | None | None | None | None | N |
| Q/V | 0.6901 | likely_pathogenic | 0.8204 | pathogenic | 0.101 | Stabilizing | 0.999 | D | 0.502 | neutral | None | None | None | None | N |
| Q/W | 0.9011 | likely_pathogenic | 0.9624 | pathogenic | -0.177 | Destabilizing | 1.0 | D | 0.635 | neutral | None | None | None | None | N |
| Q/Y | 0.8245 | likely_pathogenic | 0.8903 | pathogenic | 0.041 | Stabilizing | 0.996 | D | 0.421 | 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.