Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3135 | 9628;9629;9630 | chr2:178767827;178767826;178767825 | chr2:179632554;179632553;179632552 |
| N2AB | 3135 | 9628;9629;9630 | chr2:178767827;178767826;178767825 | chr2:179632554;179632553;179632552 |
| N2A | 3135 | 9628;9629;9630 | chr2:178767827;178767826;178767825 | chr2:179632554;179632553;179632552 |
| N2B | 3089 | 9490;9491;9492 | chr2:178767827;178767826;178767825 | chr2:179632554;179632553;179632552 |
| Novex-1 | 3089 | 9490;9491;9492 | chr2:178767827;178767826;178767825 | chr2:179632554;179632553;179632552 |
| Novex-2 | 3089 | 9490;9491;9492 | chr2:178767827;178767826;178767825 | chr2:179632554;179632553;179632552 |
| Novex-3 | 3135 | 9628;9629;9630 | chr2:178767827;178767826;178767825 | chr2:179632554;179632553;179632552 |
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/M | rs557922344  |
-0.447 | 0.01 | N | 0.264 | 0.114 | 0.242244723065 | gnomAD-2.1.1 | 7.97E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.09016E-04 | None | 0 | None | 0 | 0 | 0 |
| V/M | rs557922344 |
-0.447 | 0.01 | N | 0.264 | 0.114 | 0.242244723065 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 1.92382E-04 | None | 0 | 0 | 0 | 2.06954E-04 | 0 |
| V/M | rs557922344 |
-0.447 | 0.01 | N | 0.264 | 0.114 | 0.242244723065 | 1000 genomes | 3.99361E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 1E-03 | None |
| V/M | rs557922344 |
-0.447 | 0.01 | N | 0.264 | 0.114 | 0.242244723065 | gnomAD-4.0.0 | 7.43435E-06 | None | None | None | None | N | None | 2.6656E-05 | 0 | None | 0 | 6.68628E-05 | None | 0 | 0 | 2.54239E-06 | 3.29359E-05 | 1.59974E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.174 | likely_benign | 0.1766 | benign | -1.0 | Destabilizing | 0.027 | N | 0.498 | neutral | N | 0.493393279 | None | None | N |
| V/C | 0.7067 | likely_pathogenic | 0.648 | pathogenic | -0.736 | Destabilizing | 0.935 | D | 0.597 | neutral | None | None | None | None | N |
| V/D | 0.4652 | ambiguous | 0.4927 | ambiguous | -0.497 | Destabilizing | 0.38 | N | 0.67 | neutral | None | None | None | None | N |
| V/E | 0.2304 | likely_benign | 0.2353 | benign | -0.532 | Destabilizing | 0.317 | N | 0.662 | neutral | N | 0.479972635 | None | None | N |
| V/F | 0.1379 | likely_benign | 0.1558 | benign | -0.827 | Destabilizing | 0.38 | N | 0.63 | neutral | None | None | None | None | N |
| V/G | 0.2634 | likely_benign | 0.263 | benign | -1.266 | Destabilizing | 0.117 | N | 0.665 | neutral | D | 0.559359102 | None | None | N |
| V/H | 0.4388 | ambiguous | 0.4198 | ambiguous | -0.749 | Destabilizing | 0.935 | D | 0.635 | neutral | None | None | None | None | N |
| V/I | 0.0777 | likely_benign | 0.0853 | benign | -0.401 | Destabilizing | 0.001 | N | 0.23 | neutral | None | None | None | None | N |
| V/K | 0.1967 | likely_benign | 0.183 | benign | -0.78 | Destabilizing | 0.149 | N | 0.671 | neutral | None | None | None | None | N |
| V/L | 0.1161 | likely_benign | 0.1256 | benign | -0.401 | Destabilizing | 0.01 | N | 0.265 | neutral | N | 0.509392031 | None | None | N |
| V/M | 0.0585 | likely_benign | 0.0626 | benign | -0.365 | Destabilizing | 0.01 | N | 0.264 | neutral | N | 0.501264314 | None | None | N |
| V/N | 0.2683 | likely_benign | 0.29 | benign | -0.547 | Destabilizing | 0.38 | N | 0.666 | neutral | None | None | None | None | N |
| V/P | 0.8105 | likely_pathogenic | 0.7733 | pathogenic | -0.564 | Destabilizing | 0.555 | D | 0.663 | neutral | None | None | None | None | N |
| V/Q | 0.1994 | likely_benign | 0.1887 | benign | -0.712 | Destabilizing | 0.38 | N | 0.661 | neutral | None | None | None | None | N |
| V/R | 0.1733 | likely_benign | 0.1667 | benign | -0.295 | Destabilizing | 0.38 | N | 0.665 | neutral | None | None | None | None | N |
| V/S | 0.1775 | likely_benign | 0.1893 | benign | -1.062 | Destabilizing | 0.081 | N | 0.639 | neutral | None | None | None | None | N |
| V/T | 0.1131 | likely_benign | 0.1156 | benign | -0.98 | Destabilizing | 0.001 | N | 0.258 | neutral | None | None | None | None | N |
| V/W | 0.5978 | likely_pathogenic | 0.6113 | pathogenic | -0.966 | Destabilizing | 0.935 | D | 0.637 | neutral | None | None | None | None | N |
| V/Y | 0.4002 | ambiguous | 0.4369 | ambiguous | -0.661 | Destabilizing | 0.555 | D | 0.627 | 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.