Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31977 | 96154;96155;96156 | chr2:178544300;178544299;178544298 | chr2:179409027;179409026;179409025 |
| N2AB | 30336 | 91231;91232;91233 | chr2:178544300;178544299;178544298 | chr2:179409027;179409026;179409025 |
| N2A | 29409 | 88450;88451;88452 | chr2:178544300;178544299;178544298 | chr2:179409027;179409026;179409025 |
| N2B | 22912 | 68959;68960;68961 | chr2:178544300;178544299;178544298 | chr2:179409027;179409026;179409025 |
| Novex-1 | 23037 | 69334;69335;69336 | chr2:178544300;178544299;178544298 | chr2:179409027;179409026;179409025 |
| Novex-2 | 23104 | 69535;69536;69537 | chr2:178544300;178544299;178544298 | chr2:179409027;179409026;179409025 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/I | rs1575423808  |
None | None | N | 0.049 | 0.103 | 0.158396225186 | gnomAD-4.0.0 | 1.59137E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02425E-05 |
| M/T | rs1481950216 |
-1.091 | None | N | 0.082 | 0.071 | 0.403752378121 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 9.96E-05 | 5.58E-05 | None | 0 | None | 0 | 0 | 0 |
| M/T | rs1481950216 |
-1.091 | None | N | 0.082 | 0.071 | 0.403752378121 | gnomAD-4.0.0 | 4.78959E-06 | None | None | None | None | N | None | 0 | 0 | None | 3.82673E-05 | 2.51991E-05 | None | 0 | 0 | 4.49751E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/A | 0.1022 | likely_benign | 0.1037 | benign | -0.86 | Destabilizing | None | N | 0.079 | neutral | None | None | None | None | N |
| M/C | 0.4101 | ambiguous | 0.4315 | ambiguous | -0.431 | Destabilizing | 0.245 | N | 0.369 | neutral | None | None | None | None | N |
| M/D | 0.3467 | ambiguous | 0.3344 | benign | -0.076 | Destabilizing | 0.018 | N | 0.286 | neutral | None | None | None | None | N |
| M/E | 0.1699 | likely_benign | 0.1675 | benign | -0.121 | Destabilizing | 0.018 | N | 0.253 | neutral | None | None | None | None | N |
| M/F | 0.215 | likely_benign | 0.2156 | benign | -0.403 | Destabilizing | 0.018 | N | 0.332 | neutral | None | None | None | None | N |
| M/G | 0.2485 | likely_benign | 0.2447 | benign | -1.051 | Destabilizing | 0.004 | N | 0.229 | neutral | None | None | None | None | N |
| M/H | 0.2277 | likely_benign | 0.239 | benign | -0.179 | Destabilizing | 0.497 | N | 0.365 | neutral | None | None | None | None | N |
| M/I | 0.1247 | likely_benign | 0.1282 | benign | -0.431 | Destabilizing | None | N | 0.049 | neutral | N | 0.44500255 | None | None | N |
| M/K | 0.0955 | likely_benign | 0.0924 | benign | 0.043 | Stabilizing | 0.006 | N | 0.285 | neutral | N | 0.420701539 | None | None | N |
| M/L | 0.0865 | likely_benign | 0.0869 | benign | -0.431 | Destabilizing | None | N | 0.135 | neutral | N | 0.444829192 | None | None | N |
| M/N | 0.1531 | likely_benign | 0.1457 | benign | 0.27 | Stabilizing | 0.018 | N | 0.253 | neutral | None | None | None | None | N |
| M/P | 0.1378 | likely_benign | 0.1337 | benign | -0.547 | Destabilizing | 0.037 | N | 0.285 | neutral | None | None | None | None | N |
| M/Q | 0.1182 | likely_benign | 0.1217 | benign | 0.087 | Stabilizing | 0.037 | N | 0.332 | neutral | None | None | None | None | N |
| M/R | 0.1056 | likely_benign | 0.0984 | benign | 0.611 | Stabilizing | 0.014 | N | 0.323 | neutral | N | 0.452197882 | None | None | N |
| M/S | 0.1276 | likely_benign | 0.1243 | benign | -0.179 | Destabilizing | None | N | 0.085 | neutral | None | None | None | None | N |
| M/T | 0.0793 | likely_benign | 0.0755 | benign | -0.129 | Destabilizing | None | N | 0.082 | neutral | N | 0.410196543 | None | None | N |
| M/V | 0.069 | likely_benign | 0.0709 | benign | -0.547 | Destabilizing | None | N | 0.049 | neutral | N | 0.433785479 | None | None | N |
| M/W | 0.4198 | ambiguous | 0.4196 | ambiguous | -0.338 | Destabilizing | 0.497 | N | 0.371 | neutral | None | None | None | None | N |
| M/Y | 0.3091 | likely_benign | 0.3149 | benign | -0.264 | Destabilizing | 0.085 | N | 0.405 | 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.