Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6825 | 20698;20699;20700 | chr2:178725849;178725848;178725847 | chr2:179590576;179590575;179590574 |
| N2AB | 6508 | 19747;19748;19749 | chr2:178725849;178725848;178725847 | chr2:179590576;179590575;179590574 |
| N2A | 5581 | 16966;16967;16968 | chr2:178725849;178725848;178725847 | chr2:179590576;179590575;179590574 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | rs1405860500  |
0.098 | None | N | 0.087 | 0.109 | 0.0762999501168 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| T/I | rs763006525 |
0.184 | 0.012 | N | 0.283 | 0.139 | 0.318540980066 | gnomAD-2.1.1 | 2.01E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 4.45E-05 | 0 |
| T/I | rs763006525 |
0.184 | 0.012 | N | 0.283 | 0.139 | 0.318540980066 | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 7.35E-05 | 0 | 0 |
| T/I | rs763006525 |
0.184 | 0.012 | N | 0.283 | 0.139 | 0.318540980066 | gnomAD-4.0.0 | 3.40939E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.40857E-05 | 0 | 4.80584E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0531 | likely_benign | 0.0541 | benign | -0.382 | Destabilizing | None | N | 0.087 | neutral | N | 0.414565866 | None | None | N |
| T/C | 0.3144 | likely_benign | 0.3113 | benign | -0.256 | Destabilizing | 0.356 | N | 0.209 | neutral | None | None | None | None | N |
| T/D | 0.2054 | likely_benign | 0.2257 | benign | 0.238 | Stabilizing | 0.038 | N | 0.271 | neutral | None | None | None | None | N |
| T/E | 0.2171 | likely_benign | 0.2407 | benign | 0.175 | Stabilizing | 0.016 | N | 0.247 | neutral | None | None | None | None | N |
| T/F | 0.1397 | likely_benign | 0.1289 | benign | -0.916 | Destabilizing | 0.214 | N | 0.359 | neutral | None | None | None | None | N |
| T/G | 0.1203 | likely_benign | 0.1173 | benign | -0.514 | Destabilizing | 0.016 | N | 0.226 | neutral | None | None | None | None | N |
| T/H | 0.1668 | likely_benign | 0.1669 | benign | -0.759 | Destabilizing | 0.356 | N | 0.254 | neutral | None | None | None | None | N |
| T/I | 0.0849 | likely_benign | 0.0859 | benign | -0.152 | Destabilizing | 0.012 | N | 0.283 | neutral | N | 0.487890189 | None | None | N |
| T/K | 0.168 | likely_benign | 0.1779 | benign | -0.283 | Destabilizing | None | N | 0.161 | neutral | None | None | None | None | N |
| T/L | 0.0686 | likely_benign | 0.067 | benign | -0.152 | Destabilizing | 0.007 | N | 0.196 | neutral | None | None | None | None | N |
| T/M | 0.079 | likely_benign | 0.0769 | benign | -0.041 | Destabilizing | 0.003 | N | 0.177 | neutral | None | None | None | None | N |
| T/N | 0.0757 | likely_benign | 0.0726 | benign | -0.107 | Destabilizing | 0.029 | N | 0.143 | neutral | N | 0.505014512 | None | None | N |
| T/P | 0.0741 | likely_benign | 0.075 | benign | -0.2 | Destabilizing | None | N | 0.175 | neutral | N | 0.416470021 | None | None | N |
| T/Q | 0.1711 | likely_benign | 0.1745 | benign | -0.282 | Destabilizing | 0.072 | N | 0.318 | neutral | None | None | None | None | N |
| T/R | 0.1579 | likely_benign | 0.1649 | benign | -0.033 | Destabilizing | 0.038 | N | 0.293 | neutral | None | None | None | None | N |
| T/S | 0.0701 | likely_benign | 0.0673 | benign | -0.326 | Destabilizing | None | N | 0.123 | neutral | N | 0.421185194 | None | None | N |
| T/V | 0.0784 | likely_benign | 0.0801 | benign | -0.2 | Destabilizing | None | N | 0.087 | neutral | None | None | None | None | N |
| T/W | 0.4804 | ambiguous | 0.4747 | ambiguous | -0.947 | Destabilizing | 0.864 | D | 0.257 | neutral | None | None | None | None | N |
| T/Y | 0.1689 | likely_benign | 0.1669 | benign | -0.643 | Destabilizing | 0.356 | N | 0.343 | 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.