Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31549 | 94870;94871;94872 | chr2:178546783;178546782;178546781 | chr2:179411510;179411509;179411508 |
| N2AB | 29908 | 89947;89948;89949 | chr2:178546783;178546782;178546781 | chr2:179411510;179411509;179411508 |
| N2A | 28981 | 87166;87167;87168 | chr2:178546783;178546782;178546781 | chr2:179411510;179411509;179411508 |
| N2B | 22484 | 67675;67676;67677 | chr2:178546783;178546782;178546781 | chr2:179411510;179411509;179411508 |
| Novex-1 | 22609 | 68050;68051;68052 | chr2:178546783;178546782;178546781 | chr2:179411510;179411509;179411508 |
| Novex-2 | 22676 | 68251;68252;68253 | chr2:178546783;178546782;178546781 | chr2:179411510;179411509;179411508 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/G | rs1202729127  |
-1.133 | 0.201 | N | 0.369 | 0.118 | 0.15556083564 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/G | rs1202729127 |
-1.133 | 0.201 | N | 0.369 | 0.118 | 0.15556083564 | gnomAD-4.0.0 | 1.5914E-06 | None | None | None | None | N | None | 0 | 2.28666E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/I | None | None | 0.896 | N | 0.347 | 0.182 | 0.352910780287 | gnomAD-4.0.0 | 1.59138E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.88239E-05 | 0 | 0 | 0 | 0 |
| S/N | rs1697358835 |
None | 0.002 | N | 0.071 | 0.086 | 0.141422826196 | gnomAD-4.0.0 | 1.59138E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85858E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0912 | likely_benign | 0.0874 | benign | -0.172 | Destabilizing | 0.4 | N | 0.353 | neutral | None | None | None | None | N |
| S/C | 0.1275 | likely_benign | 0.1209 | benign | -0.371 | Destabilizing | 0.009 | N | 0.187 | neutral | N | 0.457953205 | None | None | N |
| S/D | 0.2783 | likely_benign | 0.2644 | benign | 0.068 | Stabilizing | 0.447 | N | 0.349 | neutral | None | None | None | None | N |
| S/E | 0.4323 | ambiguous | 0.4029 | ambiguous | -0.036 | Destabilizing | 0.617 | D | 0.348 | neutral | None | None | None | None | N |
| S/F | 0.2978 | likely_benign | 0.2595 | benign | -0.852 | Destabilizing | 0.972 | D | 0.367 | neutral | None | None | None | None | N |
| S/G | 0.0725 | likely_benign | 0.0692 | benign | -0.241 | Destabilizing | 0.201 | N | 0.369 | neutral | N | 0.468337983 | None | None | N |
| S/H | 0.3044 | likely_benign | 0.2845 | benign | -0.659 | Destabilizing | 0.85 | D | 0.321 | neutral | None | None | None | None | N |
| S/I | 0.2286 | likely_benign | 0.2021 | benign | -0.124 | Destabilizing | 0.896 | D | 0.347 | neutral | N | 0.495220727 | None | None | N |
| S/K | 0.5447 | ambiguous | 0.5029 | ambiguous | -0.48 | Destabilizing | 0.25 | N | 0.361 | neutral | None | None | None | None | N |
| S/L | 0.1285 | likely_benign | 0.1144 | benign | -0.124 | Destabilizing | 0.617 | D | 0.37 | neutral | None | None | None | None | N |
| S/M | 0.2333 | likely_benign | 0.2138 | benign | -0.109 | Destabilizing | 0.972 | D | 0.321 | neutral | None | None | None | None | N |
| S/N | 0.0979 | likely_benign | 0.0922 | benign | -0.203 | Destabilizing | 0.002 | N | 0.071 | neutral | N | 0.472821083 | None | None | N |
| S/P | 0.2243 | likely_benign | 0.1939 | benign | -0.114 | Destabilizing | 0.92 | D | 0.317 | neutral | None | None | None | None | N |
| S/Q | 0.4302 | ambiguous | 0.4013 | ambiguous | -0.421 | Destabilizing | 0.85 | D | 0.349 | neutral | None | None | None | None | N |
| S/R | 0.4727 | ambiguous | 0.4347 | ambiguous | -0.264 | Destabilizing | 0.004 | N | 0.177 | neutral | N | 0.480096559 | None | None | N |
| S/T | 0.0775 | likely_benign | 0.0758 | benign | -0.293 | Destabilizing | 0.334 | N | 0.431 | neutral | N | 0.452525956 | None | None | N |
| S/V | 0.2043 | likely_benign | 0.1837 | benign | -0.114 | Destabilizing | 0.617 | D | 0.344 | neutral | None | None | None | None | N |
| S/W | 0.41 | ambiguous | 0.361 | ambiguous | -0.931 | Destabilizing | 0.992 | D | 0.447 | neutral | None | None | None | None | N |
| S/Y | 0.2359 | likely_benign | 0.2108 | benign | -0.623 | Destabilizing | 0.972 | D | 0.368 | 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.