Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27632 | 83119;83120;83121 | chr2:178563238;178563237;178563236 | chr2:179427965;179427964;179427963 |
| N2AB | 25991 | 78196;78197;78198 | chr2:178563238;178563237;178563236 | chr2:179427965;179427964;179427963 |
| N2A | 25064 | 75415;75416;75417 | chr2:178563238;178563237;178563236 | chr2:179427965;179427964;179427963 |
| N2B | 18567 | 55924;55925;55926 | chr2:178563238;178563237;178563236 | chr2:179427965;179427964;179427963 |
| Novex-1 | 18692 | 56299;56300;56301 | chr2:178563238;178563237;178563236 | chr2:179427965;179427964;179427963 |
| Novex-2 | 18759 | 56500;56501;56502 | chr2:178563238;178563237;178563236 | chr2:179427965;179427964;179427963 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/I | rs1229009880  |
-0.204 | 1.0 | N | 0.713 | 0.533 | 0.577830415381 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.65837E-04 |
| T/I | rs1229009880 |
-0.204 | 1.0 | N | 0.713 | 0.533 | 0.577830415381 | gnomAD-4.0.0 | 1.36849E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99517E-07 | 1.15934E-05 | 0 |
| T/R | None | None | 0.999 | N | 0.701 | 0.476 | 0.67760892679 | gnomAD-4.0.0 | 6.84243E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99517E-07 | 0 | 0 |
| T/S | rs748765738 |
-0.405 | 0.998 | N | 0.403 | 0.42 | 0.277317399466 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| T/S | rs748765738 |
-0.405 | 0.998 | N | 0.403 | 0.42 | 0.277317399466 | gnomAD-4.0.0 | 4.80129E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.25001E-06 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.1308 | likely_benign | 0.1364 | benign | -0.761 | Destabilizing | 0.998 | D | 0.433 | neutral | N | 0.491544317 | None | None | N |
| T/C | 0.3641 | ambiguous | 0.3875 | ambiguous | -0.443 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | N |
| T/D | 0.6354 | likely_pathogenic | 0.6096 | pathogenic | 0.586 | Stabilizing | 1.0 | D | 0.643 | neutral | None | None | None | None | N |
| T/E | 0.4024 | ambiguous | 0.3902 | ambiguous | 0.566 | Stabilizing | 0.999 | D | 0.659 | neutral | None | None | None | None | N |
| T/F | 0.3545 | ambiguous | 0.3724 | ambiguous | -1.073 | Destabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | N |
| T/G | 0.4936 | ambiguous | 0.4917 | ambiguous | -0.957 | Destabilizing | 1.0 | D | 0.677 | prob.neutral | None | None | None | None | N |
| T/H | 0.3157 | likely_benign | 0.3088 | benign | -1.202 | Destabilizing | 0.844 | D | 0.439 | neutral | None | None | None | None | N |
| T/I | 0.1329 | likely_benign | 0.1395 | benign | -0.343 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | N | 0.497785287 | None | None | N |
| T/K | 0.2899 | likely_benign | 0.278 | benign | -0.324 | Destabilizing | 0.999 | D | 0.653 | neutral | N | 0.476376123 | None | None | N |
| T/L | 0.1194 | likely_benign | 0.1254 | benign | -0.343 | Destabilizing | 0.998 | D | 0.571 | neutral | None | None | None | None | N |
| T/M | 0.0976 | likely_benign | 0.1071 | benign | -0.168 | Destabilizing | 1.0 | D | 0.714 | prob.delet. | None | None | None | None | N |
| T/N | 0.2303 | likely_benign | 0.2263 | benign | -0.242 | Destabilizing | 0.999 | D | 0.566 | neutral | None | None | None | None | N |
| T/P | 0.3287 | likely_benign | 0.3438 | ambiguous | -0.452 | Destabilizing | 1.0 | D | 0.714 | prob.delet. | N | 0.492558275 | None | None | N |
| T/Q | 0.2532 | likely_benign | 0.2533 | benign | -0.373 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| T/R | 0.2309 | likely_benign | 0.2135 | benign | -0.174 | Destabilizing | 0.999 | D | 0.701 | prob.neutral | N | 0.477060913 | None | None | N |
| T/S | 0.1732 | likely_benign | 0.1764 | benign | -0.607 | Destabilizing | 0.998 | D | 0.403 | neutral | N | 0.483631052 | None | None | N |
| T/V | 0.1012 | likely_benign | 0.1089 | benign | -0.452 | Destabilizing | 1.0 | D | 0.489 | neutral | None | None | None | None | N |
| T/W | 0.7008 | likely_pathogenic | 0.7092 | pathogenic | -0.993 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| T/Y | 0.4232 | ambiguous | 0.4181 | ambiguous | -0.733 | Destabilizing | 0.999 | D | 0.749 | deleterious | 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.