Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7340 | 22243;22244;22245 | chr2:178722881;178722880;178722879 | chr2:179587608;179587607;179587606 |
| N2AB | 7023 | 21292;21293;21294 | chr2:178722881;178722880;178722879 | chr2:179587608;179587607;179587606 |
| N2A | 6096 | 18511;18512;18513 | chr2:178722881;178722880;178722879 | chr2:179587608;179587607;179587606 |
| 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/D | None | None | 0.642 | N | 0.711 | 0.28 | 0.69243939542 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| V/I | rs566468573  |
-0.107 | 0.425 | N | 0.576 | 0.105 | 0.259761712551 | gnomAD-2.1.1 | 1.09162E-04 | None | None | None | None | I | None | 0 | 0 | None | 0 | 5.62E-05 | None | 6.89429E-04 | None | 0 | 2.68E-05 | 3.3456E-04 |
| V/I | rs566468573 |
-0.107 | 0.425 | N | 0.576 | 0.105 | 0.259761712551 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 2.07039E-04 | 0 |
| V/I | rs566468573 |
-0.107 | 0.425 | N | 0.576 | 0.105 | 0.259761712551 | gnomAD-4.0.0 | 5.27016E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.18703E-05 | 6.81438E-04 | 1.44249E-04 |
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 | 0.0848 | likely_benign | 0.1248 | benign | -1.405 | Destabilizing | 0.002 | N | 0.182 | neutral | N | 0.49036112 | None | None | I |
| V/C | 0.6145 | likely_pathogenic | 0.7406 | pathogenic | -1.238 | Destabilizing | 0.995 | D | 0.689 | prob.neutral | None | None | None | None | I |
| V/D | 0.4225 | ambiguous | 0.6987 | pathogenic | -0.374 | Destabilizing | 0.642 | D | 0.711 | prob.delet. | N | 0.510697031 | None | None | I |
| V/E | 0.3815 | ambiguous | 0.6325 | pathogenic | -0.219 | Destabilizing | 0.704 | D | 0.585 | neutral | None | None | None | None | I |
| V/F | 0.1617 | likely_benign | 0.2707 | benign | -0.759 | Destabilizing | 0.927 | D | 0.71 | prob.delet. | N | 0.471321743 | None | None | I |
| V/G | 0.1935 | likely_benign | 0.3154 | benign | -1.854 | Destabilizing | 0.473 | N | 0.615 | neutral | N | 0.483692006 | None | None | I |
| V/H | 0.5613 | ambiguous | 0.7949 | pathogenic | -1.257 | Destabilizing | 0.981 | D | 0.734 | prob.delet. | None | None | None | None | I |
| V/I | 0.0744 | likely_benign | 0.085 | benign | -0.205 | Destabilizing | 0.425 | N | 0.576 | neutral | N | 0.468583125 | None | None | I |
| V/K | 0.3673 | ambiguous | 0.6053 | pathogenic | -0.852 | Destabilizing | 0.031 | N | 0.467 | neutral | None | None | None | None | I |
| V/L | 0.1523 | likely_benign | 0.2362 | benign | -0.205 | Destabilizing | 0.27 | N | 0.475 | neutral | N | 0.496017656 | None | None | I |
| V/M | 0.1257 | likely_benign | 0.1874 | benign | -0.478 | Destabilizing | 0.981 | D | 0.639 | neutral | None | None | None | None | I |
| V/N | 0.3044 | likely_benign | 0.533 | ambiguous | -0.975 | Destabilizing | 0.704 | D | 0.713 | prob.delet. | None | None | None | None | I |
| V/P | 0.7362 | likely_pathogenic | 0.8957 | pathogenic | -0.573 | Destabilizing | 0.828 | D | 0.711 | prob.delet. | None | None | None | None | I |
| V/Q | 0.3673 | ambiguous | 0.593 | pathogenic | -0.809 | Destabilizing | 0.893 | D | 0.716 | prob.delet. | None | None | None | None | I |
| V/R | 0.3248 | likely_benign | 0.5449 | ambiguous | -0.8 | Destabilizing | 0.007 | N | 0.503 | neutral | None | None | None | None | I |
| V/S | 0.1584 | likely_benign | 0.2728 | benign | -1.771 | Destabilizing | 0.329 | N | 0.541 | neutral | None | None | None | None | I |
| V/T | 0.1119 | likely_benign | 0.1704 | benign | -1.446 | Destabilizing | 0.013 | N | 0.231 | neutral | None | None | None | None | I |
| V/W | 0.7899 | likely_pathogenic | 0.9304 | pathogenic | -0.949 | Destabilizing | 0.995 | D | 0.721 | prob.delet. | None | None | None | None | I |
| V/Y | 0.5031 | ambiguous | 0.7246 | pathogenic | -0.612 | Destabilizing | 0.981 | D | 0.717 | prob.delet. | None | None | None | None | I |
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.