Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21151 | 63676;63677;63678 | chr2:178587956;178587955;178587954 | chr2:179452683;179452682;179452681 |
| N2AB | 19510 | 58753;58754;58755 | chr2:178587956;178587955;178587954 | chr2:179452683;179452682;179452681 |
| N2A | 18583 | 55972;55973;55974 | chr2:178587956;178587955;178587954 | chr2:179452683;179452682;179452681 |
| N2B | 12086 | 36481;36482;36483 | chr2:178587956;178587955;178587954 | chr2:179452683;179452682;179452681 |
| Novex-1 | 12211 | 36856;36857;36858 | chr2:178587956;178587955;178587954 | chr2:179452683;179452682;179452681 |
| Novex-2 | 12278 | 37057;37058;37059 | chr2:178587956;178587955;178587954 | chr2:179452683;179452682;179452681 |
| 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 | None | None | 0.002 | N | 0.319 | 0.144 | 0.417334834585 | gnomAD-4.0.0 | 2.74231E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00563E-07 | 3.49333E-05 | 0 |
| V/I | rs1407254321  |
-0.093 | 0.172 | N | 0.449 | 0.194 | 0.480349945188 | gnomAD-2.1.1 | 8.2E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 6.63E-05 | None | 0 | 0 | 0 |
| V/I | rs1407254321 |
-0.093 | 0.172 | N | 0.449 | 0.194 | 0.480349945188 | gnomAD-4.0.0 | 3.1974E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 6.07386E-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 | 0.1556 | likely_benign | 0.1746 | benign | -0.392 | Destabilizing | 0.002 | N | 0.319 | neutral | N | 0.458489136 | None | None | I |
| V/C | 0.7262 | likely_pathogenic | 0.7731 | pathogenic | -0.731 | Destabilizing | 0.947 | D | 0.697 | prob.neutral | None | None | None | None | I |
| V/D | 0.7756 | likely_pathogenic | 0.7924 | pathogenic | -0.429 | Destabilizing | 0.638 | D | 0.792 | deleterious | N | 0.47967367 | None | None | I |
| V/E | 0.617 | likely_pathogenic | 0.6495 | pathogenic | -0.551 | Destabilizing | 0.7 | D | 0.746 | deleterious | None | None | None | None | I |
| V/F | 0.3219 | likely_benign | 0.3594 | ambiguous | -0.685 | Destabilizing | 0.781 | D | 0.692 | prob.neutral | N | 0.468294593 | None | None | I |
| V/G | 0.3423 | ambiguous | 0.3806 | ambiguous | -0.487 | Destabilizing | 0.468 | N | 0.705 | prob.neutral | N | 0.510918111 | None | None | I |
| V/H | 0.7881 | likely_pathogenic | 0.8181 | pathogenic | -0.008 | Destabilizing | 0.982 | D | 0.813 | deleterious | None | None | None | None | I |
| V/I | 0.1098 | likely_benign | 0.11 | benign | -0.295 | Destabilizing | 0.172 | N | 0.449 | neutral | N | 0.4977596 | None | None | I |
| V/K | 0.616 | likely_pathogenic | 0.6513 | pathogenic | -0.445 | Destabilizing | 0.7 | D | 0.75 | deleterious | None | None | None | None | I |
| V/L | 0.4216 | ambiguous | 0.4698 | ambiguous | -0.295 | Destabilizing | 0.094 | N | 0.497 | neutral | N | 0.497202239 | None | None | I |
| V/M | 0.3075 | likely_benign | 0.3328 | benign | -0.458 | Destabilizing | 0.826 | D | 0.677 | prob.neutral | None | None | None | None | I |
| V/N | 0.5656 | likely_pathogenic | 0.6035 | pathogenic | -0.238 | Destabilizing | 0.826 | D | 0.803 | deleterious | None | None | None | None | I |
| V/P | 0.9004 | likely_pathogenic | 0.9196 | pathogenic | -0.296 | Destabilizing | 0.7 | D | 0.771 | deleterious | None | None | None | None | I |
| V/Q | 0.5807 | likely_pathogenic | 0.628 | pathogenic | -0.491 | Destabilizing | 0.826 | D | 0.783 | deleterious | None | None | None | None | I |
| V/R | 0.5112 | ambiguous | 0.5451 | ambiguous | 0.098 | Stabilizing | 0.7 | D | 0.803 | deleterious | None | None | None | None | I |
| V/S | 0.3483 | ambiguous | 0.384 | ambiguous | -0.551 | Destabilizing | 0.539 | D | 0.683 | prob.neutral | None | None | None | None | I |
| V/T | 0.2802 | likely_benign | 0.2992 | benign | -0.577 | Destabilizing | 0.25 | N | 0.595 | neutral | None | None | None | None | I |
| V/W | 0.915 | likely_pathogenic | 0.9285 | pathogenic | -0.746 | Destabilizing | 0.982 | D | 0.829 | deleterious | None | None | None | None | I |
| V/Y | 0.723 | likely_pathogenic | 0.7622 | pathogenic | -0.459 | Destabilizing | 0.826 | D | 0.699 | prob.neutral | 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.