Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18013 | 54262;54263;54264 | chr2:178605140;178605139;178605138 | chr2:179469867;179469866;179469865 |
| N2AB | 16372 | 49339;49340;49341 | chr2:178605140;178605139;178605138 | chr2:179469867;179469866;179469865 |
| N2A | 15445 | 46558;46559;46560 | chr2:178605140;178605139;178605138 | chr2:179469867;179469866;179469865 |
| N2B | 8948 | 27067;27068;27069 | chr2:178605140;178605139;178605138 | chr2:179469867;179469866;179469865 |
| Novex-1 | 9073 | 27442;27443;27444 | chr2:178605140;178605139;178605138 | chr2:179469867;179469866;179469865 |
| Novex-2 | 9140 | 27643;27644;27645 | chr2:178605140;178605139;178605138 | chr2:179469867;179469866;179469865 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/S | rs531242797  |
-0.733 | 0.005 | N | 0.142 | 0.046 | 0.15556083564 | gnomAD-2.1.1 | 1.09207E-04 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 8.82757E-04 | None | 0 | 0 | 0 |
| A/S | rs531242797 |
-0.733 | 0.005 | N | 0.142 | 0.046 | 0.15556083564 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 8.29531E-04 | 0 |
| A/S | rs531242797 |
-0.733 | 0.005 | N | 0.142 | 0.046 | 0.15556083564 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| A/S | rs531242797 |
-0.733 | 0.005 | N | 0.142 | 0.046 | 0.15556083564 | gnomAD-4.0.0 | 4.4027E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 7.69045E-04 | 1.602E-05 |
| A/T | rs531242797 |
-0.701 | None | N | 0.078 | 0.071 | 0.178374595973 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.97E-06 | 0 |
| A/T | rs531242797 |
-0.701 | None | N | 0.078 | 0.071 | 0.178374595973 | gnomAD-4.0.0 | 6.84636E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.9987E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.2902 | likely_benign | 0.318 | benign | -0.818 | Destabilizing | 0.824 | D | 0.405 | neutral | None | None | None | None | N |
| A/D | 0.119 | likely_benign | 0.1272 | benign | -0.816 | Destabilizing | 0.081 | N | 0.376 | neutral | None | None | None | None | N |
| A/E | 0.133 | likely_benign | 0.1301 | benign | -0.948 | Destabilizing | 0.117 | N | 0.341 | neutral | N | 0.421133108 | None | None | N |
| A/F | 0.1872 | likely_benign | 0.2064 | benign | -1.038 | Destabilizing | 0.555 | D | 0.458 | neutral | None | None | None | None | N |
| A/G | 0.1079 | likely_benign | 0.1125 | benign | -0.702 | Destabilizing | None | N | 0.081 | neutral | N | 0.417015367 | None | None | N |
| A/H | 0.1903 | likely_benign | 0.2084 | benign | -0.789 | Destabilizing | 0.555 | D | 0.443 | neutral | None | None | None | None | N |
| A/I | 0.1119 | likely_benign | 0.1222 | benign | -0.47 | Destabilizing | 0.235 | N | 0.445 | neutral | None | None | None | None | N |
| A/K | 0.1457 | likely_benign | 0.1644 | benign | -0.983 | Destabilizing | 0.002 | N | 0.227 | neutral | None | None | None | None | N |
| A/L | 0.1036 | likely_benign | 0.11 | benign | -0.47 | Destabilizing | 0.081 | N | 0.34 | neutral | None | None | None | None | N |
| A/M | 0.1342 | likely_benign | 0.1387 | benign | -0.404 | Destabilizing | 0.824 | D | 0.409 | neutral | None | None | None | None | N |
| A/N | 0.107 | likely_benign | 0.117 | benign | -0.606 | Destabilizing | 0.002 | N | 0.31 | neutral | None | None | None | None | N |
| A/P | 0.3236 | likely_benign | 0.3166 | benign | -0.472 | Destabilizing | 0.484 | N | 0.442 | neutral | N | 0.465193316 | None | None | N |
| A/Q | 0.156 | likely_benign | 0.1646 | benign | -0.897 | Destabilizing | 0.38 | N | 0.444 | neutral | None | None | None | None | N |
| A/R | 0.1658 | likely_benign | 0.1862 | benign | -0.486 | Destabilizing | 0.081 | N | 0.41 | neutral | None | None | None | None | N |
| A/S | 0.0741 | likely_benign | 0.073 | benign | -0.828 | Destabilizing | 0.005 | N | 0.142 | neutral | N | 0.419786314 | None | None | N |
| A/T | 0.0599 | likely_benign | 0.0611 | benign | -0.885 | Destabilizing | None | N | 0.078 | neutral | N | 0.423826697 | None | None | N |
| A/V | 0.0808 | likely_benign | 0.0841 | benign | -0.472 | Destabilizing | 0.062 | N | 0.306 | neutral | N | 0.422826619 | None | None | N |
| A/W | 0.4812 | ambiguous | 0.5117 | ambiguous | -1.208 | Destabilizing | 0.935 | D | 0.537 | neutral | None | None | None | None | N |
| A/Y | 0.2167 | likely_benign | 0.2395 | benign | -0.87 | Destabilizing | 0.555 | D | 0.459 | 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.