Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27097 | 81514;81515;81516 | chr2:178564843;178564842;178564841 | chr2:179429570;179429569;179429568 |
| N2AB | 25456 | 76591;76592;76593 | chr2:178564843;178564842;178564841 | chr2:179429570;179429569;179429568 |
| N2A | 24529 | 73810;73811;73812 | chr2:178564843;178564842;178564841 | chr2:179429570;179429569;179429568 |
| N2B | 18032 | 54319;54320;54321 | chr2:178564843;178564842;178564841 | chr2:179429570;179429569;179429568 |
| Novex-1 | 18157 | 54694;54695;54696 | chr2:178564843;178564842;178564841 | chr2:179429570;179429569;179429568 |
| Novex-2 | 18224 | 54895;54896;54897 | chr2:178564843;178564842;178564841 | chr2:179429570;179429569;179429568 |
| 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/L | rs794729511  |
0.103 | 0.704 | N | 0.28 | 0.094 | 0.192905019026 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | I | None | 6.48E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/L | rs794729511 |
0.103 | 0.704 | N | 0.28 | 0.094 | 0.192905019026 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | I | None | 4.82E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/L | rs794729511 |
0.103 | 0.704 | N | 0.28 | 0.094 | 0.192905019026 | gnomAD-4.0.0 | 3.09925E-06 | None | None | None | None | I | None | 5.33205E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.60133E-05 |
| V/M | rs794729511 |
-0.199 | 0.988 | N | 0.311 | 0.235 | 0.264547087235 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.95E-06 | 0 |
| V/M | rs794729511 |
-0.199 | 0.988 | N | 0.311 | 0.235 | 0.264547087235 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/M | rs794729511 |
-0.199 | 0.988 | N | 0.311 | 0.235 | 0.264547087235 | gnomAD-4.0.0 | 9.29842E-06 | None | None | None | None | I | None | 1.33518E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.01727E-05 | 0 | 3.20379E-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 | 0.3829 | ambiguous | 0.3295 | benign | -0.259 | Destabilizing | 0.704 | D | 0.222 | neutral | N | 0.445866555 | None | None | I |
| V/C | 0.8359 | likely_pathogenic | 0.8018 | pathogenic | -0.641 | Destabilizing | 0.999 | D | 0.264 | neutral | None | None | None | None | I |
| V/D | 0.7694 | likely_pathogenic | 0.7409 | pathogenic | -0.35 | Destabilizing | 0.939 | D | 0.339 | neutral | None | None | None | None | I |
| V/E | 0.6631 | likely_pathogenic | 0.6387 | pathogenic | -0.481 | Destabilizing | 0.92 | D | 0.356 | neutral | N | 0.463932241 | None | None | I |
| V/F | 0.3946 | ambiguous | 0.3524 | ambiguous | -0.693 | Destabilizing | 0.991 | D | 0.289 | neutral | None | None | None | None | I |
| V/G | 0.4228 | ambiguous | 0.3847 | ambiguous | -0.319 | Destabilizing | 0.92 | D | 0.369 | neutral | N | 0.461068081 | None | None | I |
| V/H | 0.8536 | likely_pathogenic | 0.8204 | pathogenic | 0.019 | Stabilizing | 0.999 | D | 0.245 | neutral | None | None | None | None | I |
| V/I | 0.0938 | likely_benign | 0.088 | benign | -0.254 | Destabilizing | 0.17 | N | 0.195 | neutral | None | None | None | None | I |
| V/K | 0.6732 | likely_pathogenic | 0.6507 | pathogenic | -0.296 | Destabilizing | 0.939 | D | 0.373 | neutral | None | None | None | None | I |
| V/L | 0.2889 | likely_benign | 0.2671 | benign | -0.254 | Destabilizing | 0.704 | D | 0.28 | neutral | N | 0.47626682 | None | None | I |
| V/M | 0.2795 | likely_benign | 0.2475 | benign | -0.415 | Destabilizing | 0.988 | D | 0.311 | neutral | N | 0.51474785 | None | None | I |
| V/N | 0.5932 | likely_pathogenic | 0.5401 | ambiguous | -0.047 | Destabilizing | 0.982 | D | 0.332 | neutral | None | None | None | None | I |
| V/P | 0.65 | likely_pathogenic | 0.6154 | pathogenic | -0.226 | Destabilizing | 0.046 | N | 0.256 | neutral | None | None | None | None | I |
| V/Q | 0.6205 | likely_pathogenic | 0.5783 | pathogenic | -0.295 | Destabilizing | 0.991 | D | 0.319 | neutral | None | None | None | None | I |
| V/R | 0.5946 | likely_pathogenic | 0.5792 | pathogenic | 0.173 | Stabilizing | 0.991 | D | 0.319 | neutral | None | None | None | None | I |
| V/S | 0.4643 | ambiguous | 0.4137 | ambiguous | -0.333 | Destabilizing | 0.2 | N | 0.185 | neutral | None | None | None | None | I |
| V/T | 0.453 | ambiguous | 0.3963 | ambiguous | -0.374 | Destabilizing | 0.17 | N | 0.183 | neutral | None | None | None | None | I |
| V/W | 0.939 | likely_pathogenic | 0.9248 | pathogenic | -0.761 | Destabilizing | 0.999 | D | 0.315 | neutral | None | None | None | None | I |
| V/Y | 0.7633 | likely_pathogenic | 0.7289 | pathogenic | -0.462 | Destabilizing | 0.997 | D | 0.287 | 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.