Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30096 | 90511;90512;90513 | chr2:178552614;178552613;178552612 | chr2:179417341;179417340;179417339 |
| N2AB | 28455 | 85588;85589;85590 | chr2:178552614;178552613;178552612 | chr2:179417341;179417340;179417339 |
| N2A | 27528 | 82807;82808;82809 | chr2:178552614;178552613;178552612 | chr2:179417341;179417340;179417339 |
| N2B | 21031 | 63316;63317;63318 | chr2:178552614;178552613;178552612 | chr2:179417341;179417340;179417339 |
| Novex-1 | 21156 | 63691;63692;63693 | chr2:178552614;178552613;178552612 | chr2:179417341;179417340;179417339 |
| Novex-2 | 21223 | 63892;63893;63894 | chr2:178552614;178552613;178552612 | chr2:179417341;179417340;179417339 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/E | None | None | 0.003 | N | 0.278 | 0.142 | 0.130388298395 | gnomAD-4.0.0 | 1.59106E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43279E-05 | 0 |
| Q/L | rs773339782  |
None | None | N | 0.238 | 0.117 | 0.219573609325 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| Q/L | rs773339782 |
None | None | N | 0.238 | 0.117 | 0.219573609325 | gnomAD-4.0.0 | 1.85894E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.5427E-06 | 0 | 0 |
| Q/P | None | -0.012 | 0.065 | N | 0.514 | 0.152 | 0.148003135375 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| Q/R | rs773339782 |
0.344 | 0.014 | N | 0.414 | 0.068 | 0.0482279557977 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 8.88E-06 | 0 |
| Q/R | rs773339782 |
0.344 | 0.014 | N | 0.414 | 0.068 | 0.0482279557977 | gnomAD-4.0.0 | 7.52593E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.09488E-06 | 2.31873E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.148 | likely_benign | 0.1383 | benign | -0.301 | Destabilizing | 0.008 | N | 0.324 | neutral | None | None | None | None | N |
| Q/C | 0.4859 | ambiguous | 0.4508 | ambiguous | 0.181 | Stabilizing | 0.497 | N | 0.443 | neutral | None | None | None | None | N |
| Q/D | 0.1606 | likely_benign | 0.1604 | benign | None | Stabilizing | None | N | 0.18 | neutral | None | None | None | None | N |
| Q/E | 0.074 | likely_benign | 0.0712 | benign | -0.002 | Destabilizing | 0.003 | N | 0.278 | neutral | N | 0.400672983 | None | None | N |
| Q/F | 0.4468 | ambiguous | 0.425 | ambiguous | -0.309 | Destabilizing | 0.022 | N | 0.556 | neutral | None | None | None | None | N |
| Q/G | 0.1198 | likely_benign | 0.123 | benign | -0.54 | Destabilizing | 0.008 | N | 0.427 | neutral | None | None | None | None | N |
| Q/H | 0.1401 | likely_benign | 0.14 | benign | -0.39 | Destabilizing | None | N | 0.185 | neutral | N | 0.420874897 | None | None | N |
| Q/I | 0.3373 | likely_benign | 0.3005 | benign | 0.254 | Stabilizing | 0.009 | N | 0.513 | neutral | None | None | None | None | N |
| Q/K | 0.091 | likely_benign | 0.0862 | benign | -0.051 | Destabilizing | 0.014 | N | 0.297 | neutral | N | 0.351553672 | None | None | N |
| Q/L | 0.0775 | likely_benign | 0.0705 | benign | 0.254 | Stabilizing | None | N | 0.238 | neutral | N | 0.424781994 | None | None | N |
| Q/M | 0.2213 | likely_benign | 0.2057 | benign | 0.54 | Stabilizing | 0.074 | N | 0.383 | neutral | None | None | None | None | N |
| Q/N | 0.1043 | likely_benign | 0.1099 | benign | -0.355 | Destabilizing | None | N | 0.177 | neutral | None | None | None | None | N |
| Q/P | 0.2757 | likely_benign | 0.242 | benign | 0.099 | Stabilizing | 0.065 | N | 0.514 | neutral | N | 0.4842143 | None | None | N |
| Q/R | 0.1089 | likely_benign | 0.1034 | benign | 0.12 | Stabilizing | 0.014 | N | 0.414 | neutral | N | 0.445906628 | None | None | N |
| Q/S | 0.1472 | likely_benign | 0.1466 | benign | -0.405 | Destabilizing | 0.004 | N | 0.272 | neutral | None | None | None | None | N |
| Q/T | 0.1585 | likely_benign | 0.1478 | benign | -0.243 | Destabilizing | 0.018 | N | 0.421 | neutral | None | None | None | None | N |
| Q/V | 0.2326 | likely_benign | 0.2033 | benign | 0.099 | Stabilizing | 0.009 | N | 0.451 | neutral | None | None | None | None | N |
| Q/W | 0.4372 | ambiguous | 0.4094 | ambiguous | -0.238 | Destabilizing | 0.788 | D | 0.447 | neutral | None | None | None | None | N |
| Q/Y | 0.268 | likely_benign | 0.2553 | benign | -0.019 | Destabilizing | 0.022 | N | 0.517 | 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.