Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9459 | 28600;28601;28602 | chr2:178710722;178710721;178710720 | chr2:179575449;179575448;179575447 |
| N2AB | 9142 | 27649;27650;27651 | chr2:178710722;178710721;178710720 | chr2:179575449;179575448;179575447 |
| N2A | 8215 | 24868;24869;24870 | chr2:178710722;178710721;178710720 | chr2:179575449;179575448;179575447 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs541910545  |
-2.297 | 0.005 | None | 0.164 | 0.186 | 0.450343601259 | gnomAD-2.1.1 | 8.03E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| V/A | rs541910545 |
-2.297 | 0.005 | None | 0.164 | 0.186 | 0.450343601259 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/A | rs541910545 |
-2.297 | 0.005 | None | 0.164 | 0.186 | 0.450343601259 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| V/A | rs541910545 |
-2.297 | 0.005 | None | 0.164 | 0.186 | 0.450343601259 | gnomAD-4.0.0 | 2.47867E-06 | None | None | None | None | N | None | 2.6656E-05 | 1.66644E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 1.09798E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.166 | likely_benign | 0.2145 | benign | -2.002 | Highly Destabilizing | 0.005 | N | 0.164 | neutral | None | None | None | None | N |
| V/C | 0.8804 | likely_pathogenic | 0.9188 | pathogenic | -1.901 | Destabilizing | 0.998 | D | 0.585 | neutral | None | None | None | None | N |
| V/D | 0.9409 | likely_pathogenic | 0.9749 | pathogenic | -2.414 | Highly Destabilizing | 0.974 | D | 0.641 | neutral | None | None | None | None | N |
| V/E | 0.9191 | likely_pathogenic | 0.9596 | pathogenic | -2.334 | Highly Destabilizing | 0.801 | D | 0.592 | neutral | None | None | None | None | N |
| V/F | 0.6823 | likely_pathogenic | 0.8491 | pathogenic | -1.455 | Destabilizing | 0.949 | D | 0.628 | neutral | None | None | None | None | N |
| V/G | 0.4259 | ambiguous | 0.5846 | pathogenic | -2.392 | Highly Destabilizing | 0.669 | D | 0.591 | neutral | None | None | None | None | N |
| V/H | 0.9802 | likely_pathogenic | 0.9933 | pathogenic | -1.802 | Destabilizing | 0.998 | D | 0.599 | neutral | None | None | None | None | N |
| V/I | 0.122 | likely_benign | 0.1512 | benign | -0.976 | Destabilizing | 0.454 | N | 0.489 | neutral | None | None | None | None | N |
| V/K | 0.9555 | likely_pathogenic | 0.9844 | pathogenic | -1.644 | Destabilizing | 0.842 | D | 0.566 | neutral | None | None | None | None | N |
| V/L | 0.4037 | ambiguous | 0.6234 | pathogenic | -0.976 | Destabilizing | 0.005 | N | 0.202 | neutral | None | None | None | None | N |
| V/M | 0.3487 | ambiguous | 0.5318 | ambiguous | -1.015 | Destabilizing | 0.949 | D | 0.529 | neutral | None | None | None | None | N |
| V/N | 0.8384 | likely_pathogenic | 0.9275 | pathogenic | -1.713 | Destabilizing | 0.974 | D | 0.646 | neutral | None | None | None | None | N |
| V/P | 0.8362 | likely_pathogenic | 0.9205 | pathogenic | -1.289 | Destabilizing | 0.974 | D | 0.616 | neutral | None | None | None | None | N |
| V/Q | 0.9299 | likely_pathogenic | 0.973 | pathogenic | -1.828 | Destabilizing | 0.974 | D | 0.639 | neutral | None | None | None | None | N |
| V/R | 0.9254 | likely_pathogenic | 0.9727 | pathogenic | -1.176 | Destabilizing | 0.974 | D | 0.645 | neutral | None | None | None | None | N |
| V/S | 0.5004 | ambiguous | 0.6205 | pathogenic | -2.318 | Highly Destabilizing | 0.728 | D | 0.523 | neutral | None | None | None | None | N |
| V/T | 0.2465 | likely_benign | 0.3336 | benign | -2.119 | Highly Destabilizing | 0.067 | N | 0.235 | neutral | None | None | None | None | N |
| V/W | 0.9863 | likely_pathogenic | 0.9958 | pathogenic | -1.695 | Destabilizing | 0.998 | D | 0.601 | neutral | None | None | None | None | N |
| V/Y | 0.9522 | likely_pathogenic | 0.984 | pathogenic | -1.406 | Destabilizing | 0.991 | D | 0.645 | 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.