Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20966 | 63121;63122;63123 | chr2:178588829;178588828;178588827 | chr2:179453556;179453555;179453554 |
| N2AB | 19325 | 58198;58199;58200 | chr2:178588829;178588828;178588827 | chr2:179453556;179453555;179453554 |
| N2A | 18398 | 55417;55418;55419 | chr2:178588829;178588828;178588827 | chr2:179453556;179453555;179453554 |
| N2B | 11901 | 35926;35927;35928 | chr2:178588829;178588828;178588827 | chr2:179453556;179453555;179453554 |
| Novex-1 | 12026 | 36301;36302;36303 | chr2:178588829;178588828;178588827 | chr2:179453556;179453555;179453554 |
| Novex-2 | 12093 | 36502;36503;36504 | chr2:178588829;178588828;178588827 | chr2:179453556;179453555;179453554 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/C | rs767887086  |
-0.7 | 0.999 | N | 0.471 | 0.345 | 0.562540394707 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 4.65E-05 | 0 | 0 |
| R/C | rs767887086 |
-0.7 | 0.999 | N | 0.471 | 0.345 | 0.562540394707 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| R/C | rs767887086 |
-0.7 | 0.999 | N | 0.471 | 0.345 | 0.562540394707 | gnomAD-4.0.0 | 9.91825E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.56279E-05 | 0 | 1.18686E-05 | 0 | 1.60164E-05 |
| R/G | None | None | 0.954 | N | 0.445 | 0.353 | 0.504480301252 | gnomAD-4.0.0 | 1.36874E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79918E-06 | 0 | 0 |
| R/H | rs1174185176 |
-1.379 | 0.998 | N | 0.347 | 0.257 | 0.240491677333 | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | N | None | 1.30565E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| R/H | rs1174185176 |
-1.379 | 0.998 | N | 0.347 | 0.257 | 0.240491677333 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| R/H | rs1174185176 |
-1.379 | 0.998 | N | 0.347 | 0.257 | 0.240491677333 | gnomAD-4.0.0 | 6.19891E-06 | None | None | None | None | N | None | 4.00673E-05 | 1.66845E-05 | None | 3.37975E-05 | 0 | None | 0 | 0 | 4.2388E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.2412 | likely_benign | 0.261 | benign | -0.515 | Destabilizing | 0.688 | D | 0.376 | neutral | None | None | None | None | N |
| R/C | 0.1092 | likely_benign | 0.1181 | benign | -0.448 | Destabilizing | 0.999 | D | 0.471 | neutral | N | 0.461796013 | None | None | N |
| R/D | 0.6882 | likely_pathogenic | 0.7186 | pathogenic | 0.072 | Stabilizing | 0.915 | D | 0.464 | neutral | None | None | None | None | N |
| R/E | 0.3458 | ambiguous | 0.3546 | ambiguous | 0.18 | Stabilizing | 0.842 | D | 0.313 | neutral | None | None | None | None | N |
| R/F | 0.4292 | ambiguous | 0.483 | ambiguous | -0.458 | Destabilizing | 0.991 | D | 0.455 | neutral | None | None | None | None | N |
| R/G | 0.2343 | likely_benign | 0.2643 | benign | -0.801 | Destabilizing | 0.954 | D | 0.445 | neutral | N | 0.494425719 | None | None | N |
| R/H | 0.1049 | likely_benign | 0.1165 | benign | -1.196 | Destabilizing | 0.998 | D | 0.347 | neutral | N | 0.495292511 | None | None | N |
| R/I | 0.233 | likely_benign | 0.2507 | benign | 0.238 | Stabilizing | 0.974 | D | 0.463 | neutral | None | None | None | None | N |
| R/K | 0.0858 | likely_benign | 0.0913 | benign | -0.506 | Destabilizing | 0.688 | D | 0.381 | neutral | None | None | None | None | N |
| R/L | 0.1987 | likely_benign | 0.2297 | benign | 0.238 | Stabilizing | 0.954 | D | 0.445 | neutral | N | 0.436609567 | None | None | N |
| R/M | 0.2259 | likely_benign | 0.244 | benign | -0.109 | Destabilizing | 0.991 | D | 0.425 | neutral | None | None | None | None | N |
| R/N | 0.5064 | ambiguous | 0.5458 | ambiguous | 0.007 | Stabilizing | 0.971 | D | 0.348 | neutral | None | None | None | None | N |
| R/P | 0.1696 | likely_benign | 0.1799 | benign | 0.009 | Stabilizing | 0.004 | N | 0.171 | neutral | N | 0.355759052 | None | None | N |
| R/Q | 0.0856 | likely_benign | 0.0896 | benign | -0.162 | Destabilizing | 0.971 | D | 0.366 | neutral | None | None | None | None | N |
| R/S | 0.3534 | ambiguous | 0.3898 | ambiguous | -0.671 | Destabilizing | 0.911 | D | 0.413 | neutral | N | 0.421352113 | None | None | N |
| R/T | 0.2484 | likely_benign | 0.2761 | benign | -0.39 | Destabilizing | 0.915 | D | 0.404 | neutral | None | None | None | None | N |
| R/V | 0.2908 | likely_benign | 0.324 | benign | 0.009 | Stabilizing | 0.915 | D | 0.49 | neutral | None | None | None | None | N |
| R/W | 0.2165 | likely_benign | 0.2454 | benign | -0.212 | Destabilizing | 0.998 | D | 0.536 | neutral | None | None | None | None | N |
| R/Y | 0.3223 | likely_benign | 0.3524 | ambiguous | 0.114 | Stabilizing | 0.991 | D | 0.449 | 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.