Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7788 | 23587;23588;23589 | chr2:178720400;178720399;178720398 | chr2:179585127;179585126;179585125 |
| N2AB | 7471 | 22636;22637;22638 | chr2:178720400;178720399;178720398 | chr2:179585127;179585126;179585125 |
| N2A | 6544 | 19855;19856;19857 | chr2:178720400;178720399;178720398 | chr2:179585127;179585126;179585125 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/F | rs749160569  |
-0.75 | 0.204 | N | 0.562 | 0.109 | 0.515603885326 | gnomAD-2.1.1 | 2.87E-05 | None | None | None | None | N | None | 0 | 2.26835E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/F | rs749160569 |
-0.75 | 0.204 | N | 0.562 | 0.109 | 0.515603885326 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/F | rs749160569 |
-0.75 | 0.204 | N | 0.562 | 0.109 | 0.515603885326 | gnomAD-4.0.0 | 6.20211E-06 | None | None | None | None | N | None | 0 | 1.50291E-04 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.60277E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0598 | likely_benign | 0.0599 | benign | -0.777 | Destabilizing | None | N | 0.149 | neutral | N | 0.480169209 | None | None | N |
| S/C | 0.1083 | likely_benign | 0.1128 | benign | -0.607 | Destabilizing | 0.327 | N | 0.487 | neutral | N | 0.495686871 | None | None | N |
| S/D | 0.199 | likely_benign | 0.2241 | benign | -0.234 | Destabilizing | 0.083 | N | 0.453 | neutral | None | None | None | None | N |
| S/E | 0.2648 | likely_benign | 0.2939 | benign | -0.226 | Destabilizing | 0.05 | N | 0.418 | neutral | None | None | None | None | N |
| S/F | 0.0914 | likely_benign | 0.0979 | benign | -0.925 | Destabilizing | 0.204 | N | 0.562 | neutral | N | 0.497562891 | None | None | N |
| S/G | 0.099 | likely_benign | 0.0986 | benign | -1.031 | Destabilizing | 0.034 | N | 0.375 | neutral | None | None | None | None | N |
| S/H | 0.1811 | likely_benign | 0.1993 | benign | -1.49 | Destabilizing | 0.88 | D | 0.489 | neutral | None | None | None | None | N |
| S/I | 0.0821 | likely_benign | 0.0804 | benign | -0.206 | Destabilizing | None | N | 0.284 | neutral | None | None | None | None | N |
| S/K | 0.3688 | ambiguous | 0.397 | ambiguous | -0.635 | Destabilizing | 0.123 | N | 0.412 | neutral | None | None | None | None | N |
| S/L | 0.0638 | likely_benign | 0.0622 | benign | -0.206 | Destabilizing | None | N | 0.276 | neutral | None | None | None | None | N |
| S/M | 0.1188 | likely_benign | 0.1136 | benign | 0.015 | Stabilizing | 0.005 | N | 0.287 | neutral | None | None | None | None | N |
| S/N | 0.0938 | likely_benign | 0.0923 | benign | -0.611 | Destabilizing | 0.011 | N | 0.484 | neutral | None | None | None | None | N |
| S/P | 0.1186 | likely_benign | 0.1167 | benign | -0.363 | Destabilizing | None | N | 0.199 | neutral | N | 0.516764727 | None | None | N |
| S/Q | 0.2555 | likely_benign | 0.2842 | benign | -0.771 | Destabilizing | 0.407 | N | 0.513 | neutral | None | None | None | None | N |
| S/R | 0.2855 | likely_benign | 0.324 | benign | -0.571 | Destabilizing | 0.253 | N | 0.511 | neutral | None | None | None | None | N |
| S/T | 0.0625 | likely_benign | 0.0607 | benign | -0.646 | Destabilizing | None | N | 0.144 | neutral | N | 0.42750816 | None | None | N |
| S/V | 0.0883 | likely_benign | 0.0876 | benign | -0.363 | Destabilizing | 0.004 | N | 0.336 | neutral | None | None | None | None | N |
| S/W | 0.1873 | likely_benign | 0.1992 | benign | -0.87 | Destabilizing | 0.965 | D | 0.547 | neutral | None | None | None | None | N |
| S/Y | 0.1113 | likely_benign | 0.115 | benign | -0.603 | Destabilizing | 0.645 | D | 0.557 | neutral | N | 0.505721014 | 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.