Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5314 | 16165;16166;16167 | chr2:178733353;178733352;178733351 | chr2:179598080;179598079;179598078 |
| N2AB | 4997 | 15214;15215;15216 | chr2:178733353;178733352;178733351 | chr2:179598080;179598079;179598078 |
| N2A | 4070 | 12433;12434;12435 | chr2:178733353;178733352;178733351 | chr2:179598080;179598079;179598078 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/D | rs371044267  |
0.053 | 0.98 | N | 0.559 | 0.34 | None | gnomAD-2.1.1 | 1.28718E-04 | None | None | None | None | N | None | 0 | 9.27751E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| N/D | rs371044267 |
0.053 | 0.98 | N | 0.559 | 0.34 | None | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 1.96438E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| N/D | rs371044267 |
0.053 | 0.98 | N | 0.559 | 0.34 | None | gnomAD-4.0.0 | 4.35539E-05 | None | None | None | None | N | None | 0 | 5.76252E-04 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| N/S | None | None | 0.659 | N | 0.305 | 0.237 | 0.271763555656 | gnomAD-4.0.0 | 3.42106E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59787E-06 | 0 | 1.65673E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.5137 | ambiguous | 0.5157 | ambiguous | -0.812 | Destabilizing | 0.971 | D | 0.625 | neutral | None | None | None | None | N |
| N/C | 0.581 | likely_pathogenic | 0.6014 | pathogenic | 0.034 | Stabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| N/D | 0.2286 | likely_benign | 0.2478 | benign | -0.206 | Destabilizing | 0.98 | D | 0.559 | neutral | N | 0.505913922 | None | None | N |
| N/E | 0.6781 | likely_pathogenic | 0.6965 | pathogenic | -0.085 | Destabilizing | 0.985 | D | 0.541 | neutral | None | None | None | None | N |
| N/F | 0.8345 | likely_pathogenic | 0.8457 | pathogenic | -0.596 | Destabilizing | 0.999 | D | 0.741 | deleterious | None | None | None | None | N |
| N/G | 0.4016 | ambiguous | 0.424 | ambiguous | -1.164 | Destabilizing | 0.985 | D | 0.524 | neutral | None | None | None | None | N |
| N/H | 0.1756 | likely_benign | 0.1838 | benign | -0.808 | Destabilizing | 0.999 | D | 0.621 | neutral | D | 0.57403336 | None | None | N |
| N/I | 0.6899 | likely_pathogenic | 0.6935 | pathogenic | 0.085 | Stabilizing | 0.997 | D | 0.754 | deleterious | D | 0.633007888 | None | None | N |
| N/K | 0.5092 | ambiguous | 0.4878 | ambiguous | -0.049 | Destabilizing | 0.4 | N | 0.307 | neutral | N | 0.481532522 | None | None | N |
| N/L | 0.5356 | ambiguous | 0.5564 | ambiguous | 0.085 | Stabilizing | 0.998 | D | 0.698 | prob.neutral | None | None | None | None | N |
| N/M | 0.5925 | likely_pathogenic | 0.6129 | pathogenic | 0.349 | Stabilizing | 1.0 | D | 0.726 | prob.delet. | None | None | None | None | N |
| N/P | 0.9153 | likely_pathogenic | 0.9299 | pathogenic | -0.184 | Destabilizing | 0.998 | D | 0.743 | deleterious | None | None | None | None | N |
| N/Q | 0.5189 | ambiguous | 0.5134 | ambiguous | -0.59 | Destabilizing | 0.996 | D | 0.621 | neutral | None | None | None | None | N |
| N/R | 0.5073 | ambiguous | 0.4867 | ambiguous | -0.15 | Destabilizing | 0.971 | D | 0.578 | neutral | None | None | None | None | N |
| N/S | 0.1246 | likely_benign | 0.1323 | benign | -0.779 | Destabilizing | 0.659 | D | 0.305 | neutral | N | 0.502019981 | None | None | N |
| N/T | 0.2985 | likely_benign | 0.3016 | benign | -0.449 | Destabilizing | 0.961 | D | 0.539 | neutral | N | 0.511135039 | None | None | N |
| N/V | 0.6687 | likely_pathogenic | 0.6709 | pathogenic | -0.184 | Destabilizing | 0.998 | D | 0.751 | deleterious | None | None | None | None | N |
| N/W | 0.9282 | likely_pathogenic | 0.9406 | pathogenic | -0.378 | Destabilizing | 1.0 | D | 0.708 | prob.delet. | None | None | None | None | N |
| N/Y | 0.3887 | ambiguous | 0.4122 | ambiguous | -0.136 | Destabilizing | 0.999 | D | 0.731 | prob.delet. | D | 0.540730222 | 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.