Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8054 | 24385;24386;24387 | chr2:178719230;178719229;178719228 | chr2:179583957;179583956;179583955 |
| N2AB | 7737 | 23434;23435;23436 | chr2:178719230;178719229;178719228 | chr2:179583957;179583956;179583955 |
| N2A | 6810 | 20653;20654;20655 | chr2:178719230;178719229;178719228 | chr2:179583957;179583956;179583955 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/K | rs745362139  |
-0.665 | 0.001 | N | 0.378 | 0.086 | 0.269558022972 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.11321E-04 | None | 0 | None | 0 | 0 | 0 |
| I/K | rs745362139 |
-0.665 | 0.001 | N | 0.378 | 0.086 | 0.269558022972 | gnomAD-4.0.0 | 2.22778E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 3.88199E-04 | None | 0 | 0 | 0 | 0 | 0 |
| I/L | rs72648976 |
-0.619 | 0.001 | N | 0.174 | 0.078 | 0.201204373187 | gnomAD-2.1.1 | 2.15513E-03 | None | None | None | None | N | None | 2.35299E-02 | 7.07014E-04 | None | 0 | 0 | None | 0 | None | 0 | 3.13E-05 | 7.02445E-04 |
| I/L | rs72648976 |
-0.619 | 0.001 | N | 0.174 | 0.078 | 0.201204373187 | gnomAD-3.1.2 | 6.42981E-03 | None | None | None | None | N | None | 2.2792E-02 | 1.50662E-03 | 0 | 0 | 0 | None | 0 | 0 | 7.35E-05 | 0 | 2.87081E-03 |
| I/L | rs72648976 |
-0.619 | 0.001 | N | 0.174 | 0.078 | 0.201204373187 | 1000 genomes | 5.99042E-03 | None | None | None | None | N | None | 2.19E-02 | 1.4E-03 | None | None | 0 | 0 | None | None | None | 0 | None |
| I/L | rs72648976 |
-0.619 | 0.001 | N | 0.174 | 0.078 | 0.201204373187 | gnomAD-4.0.0 | 1.14453E-03 | None | None | None | None | N | None | 2.26121E-02 | 9.66538E-04 | None | 0 | 0 | None | 0 | 1.65125E-04 | 2.03434E-05 | 0 | 1.08838E-03 |
| I/V | None | None | None | N | 0.118 | 0.09 | 0.295623431141 | gnomAD-4.0.0 | 6.84212E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99481E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.0933 | likely_benign | 0.091 | benign | -1.387 | Destabilizing | None | N | 0.183 | neutral | None | None | None | None | N |
| I/C | 0.3133 | likely_benign | 0.2727 | benign | -0.911 | Destabilizing | 0.132 | N | 0.497 | neutral | None | None | None | None | N |
| I/D | 0.1618 | likely_benign | 0.1674 | benign | -0.357 | Destabilizing | 0.009 | N | 0.39 | neutral | None | None | None | None | N |
| I/E | 0.1505 | likely_benign | 0.1638 | benign | -0.373 | Destabilizing | 0.004 | N | 0.375 | neutral | None | None | None | None | N |
| I/F | 0.0791 | likely_benign | 0.0819 | benign | -1.049 | Destabilizing | 0.041 | N | 0.402 | neutral | None | None | None | None | N |
| I/G | 0.1911 | likely_benign | 0.1868 | benign | -1.674 | Destabilizing | 0.001 | N | 0.387 | neutral | None | None | None | None | N |
| I/H | 0.1236 | likely_benign | 0.123 | benign | -0.875 | Destabilizing | 0.316 | N | 0.578 | neutral | None | None | None | None | N |
| I/K | 0.0905 | likely_benign | 0.0973 | benign | -0.68 | Destabilizing | 0.001 | N | 0.378 | neutral | N | 0.393392799 | None | None | N |
| I/L | 0.0744 | likely_benign | 0.0833 | benign | -0.694 | Destabilizing | 0.001 | N | 0.174 | neutral | N | 0.410269193 | None | None | N |
| I/M | 0.073 | likely_benign | 0.0759 | benign | -0.557 | Destabilizing | 0.032 | N | 0.477 | neutral | N | 0.461159373 | None | None | N |
| I/N | 0.0587 | likely_benign | 0.0632 | benign | -0.47 | Destabilizing | 0.009 | N | 0.38 | neutral | None | None | None | None | N |
| I/P | 0.2033 | likely_benign | 0.1855 | benign | -0.892 | Destabilizing | None | N | 0.356 | neutral | None | None | None | None | N |
| I/Q | 0.118 | likely_benign | 0.122 | benign | -0.658 | Destabilizing | 0.009 | N | 0.51 | neutral | None | None | None | None | N |
| I/R | 0.0695 | likely_benign | 0.0716 | benign | -0.17 | Destabilizing | None | N | 0.387 | neutral | N | 0.424390497 | None | None | N |
| I/S | 0.0708 | likely_benign | 0.0724 | benign | -1.164 | Destabilizing | None | N | 0.235 | neutral | None | None | None | None | N |
| I/T | 0.0646 | likely_benign | 0.0687 | benign | -1.06 | Destabilizing | None | N | 0.19 | neutral | N | 0.395491742 | None | None | N |
| I/V | 0.0672 | likely_benign | 0.0686 | benign | -0.892 | Destabilizing | None | N | 0.118 | neutral | N | 0.393048869 | None | None | N |
| I/W | 0.3792 | ambiguous | 0.3618 | ambiguous | -1.052 | Destabilizing | 0.316 | N | 0.539 | neutral | None | None | None | None | N |
| I/Y | 0.1588 | likely_benign | 0.1591 | benign | -0.806 | Destabilizing | 0.041 | N | 0.514 | 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.