Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27562 | 82909;82910;82911 | chr2:178563448;178563447;178563446 | chr2:179428175;179428174;179428173 |
| N2AB | 25921 | 77986;77987;77988 | chr2:178563448;178563447;178563446 | chr2:179428175;179428174;179428173 |
| N2A | 24994 | 75205;75206;75207 | chr2:178563448;178563447;178563446 | chr2:179428175;179428174;179428173 |
| N2B | 18497 | 55714;55715;55716 | chr2:178563448;178563447;178563446 | chr2:179428175;179428174;179428173 |
| Novex-1 | 18622 | 56089;56090;56091 | chr2:178563448;178563447;178563446 | chr2:179428175;179428174;179428173 |
| Novex-2 | 18689 | 56290;56291;56292 | chr2:178563448;178563447;178563446 | chr2:179428175;179428174;179428173 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/H | rs376616067  |
-0.678 | 0.303 | N | 0.524 | 0.193 | None | gnomAD-2.1.1 | 1.00102E-04 | None | None | None | None | N | None | 9.09993E-04 | 1.41563E-04 | None | 0 | 0 | None | 0 | None | 0 | 7.83E-06 | 0 |
| Y/H | rs376616067 |
-0.678 | 0.303 | N | 0.524 | 0.193 | None | gnomAD-3.1.2 | 3.15657E-04 | None | None | None | None | N | None | 1.08664E-03 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 9.56023E-04 |
| Y/H | rs376616067 |
-0.678 | 0.303 | N | 0.524 | 0.193 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| Y/H | rs376616067 |
-0.678 | 0.303 | N | 0.524 | 0.193 | None | gnomAD-4.0.0 | 5.94933E-05 | None | None | None | None | N | None | 9.59949E-04 | 1.33373E-04 | None | 0 | 0 | None | 0 | 0 | 7.62885E-06 | 0 | 1.12047E-04 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.4662 | ambiguous | 0.4577 | ambiguous | -2.128 | Highly Destabilizing | 0.016 | N | 0.477 | neutral | None | None | None | None | N |
| Y/C | 0.1119 | likely_benign | 0.1109 | benign | -1.109 | Destabilizing | 0.621 | D | 0.598 | neutral | N | 0.49305053 | None | None | N |
| Y/D | 0.6843 | likely_pathogenic | 0.6553 | pathogenic | -1.003 | Destabilizing | None | N | 0.443 | neutral | N | 0.49279704 | None | None | N |
| Y/E | 0.7907 | likely_pathogenic | 0.7655 | pathogenic | -0.859 | Destabilizing | 0.039 | N | 0.52 | neutral | None | None | None | None | N |
| Y/F | 0.0915 | likely_benign | 0.0923 | benign | -0.648 | Destabilizing | 0.11 | N | 0.429 | neutral | N | 0.498812819 | None | None | N |
| Y/G | 0.5514 | ambiguous | 0.5347 | ambiguous | -2.485 | Highly Destabilizing | 0.039 | N | 0.577 | neutral | None | None | None | None | N |
| Y/H | 0.1909 | likely_benign | 0.1869 | benign | -0.854 | Destabilizing | 0.303 | N | 0.524 | neutral | N | 0.481187245 | None | None | N |
| Y/I | 0.3805 | ambiguous | 0.3476 | ambiguous | -1.019 | Destabilizing | 0.001 | N | 0.277 | neutral | None | None | None | None | N |
| Y/K | 0.7207 | likely_pathogenic | 0.6954 | pathogenic | -1.328 | Destabilizing | 0.125 | N | 0.597 | neutral | None | None | None | None | N |
| Y/L | 0.4213 | ambiguous | 0.3951 | ambiguous | -1.019 | Destabilizing | 0.016 | N | 0.455 | neutral | None | None | None | None | N |
| Y/M | 0.6349 | likely_pathogenic | 0.6006 | pathogenic | -0.833 | Destabilizing | 0.366 | N | 0.549 | neutral | None | None | None | None | N |
| Y/N | 0.4374 | ambiguous | 0.3999 | ambiguous | -1.876 | Destabilizing | 0.097 | N | 0.618 | neutral | N | 0.481187245 | None | None | N |
| Y/P | 0.9117 | likely_pathogenic | 0.9096 | pathogenic | -1.388 | Destabilizing | 0.221 | N | 0.685 | prob.delet. | None | None | None | None | N |
| Y/Q | 0.4769 | ambiguous | 0.4698 | ambiguous | -1.657 | Destabilizing | 0.221 | N | 0.569 | neutral | None | None | None | None | N |
| Y/R | 0.4716 | ambiguous | 0.4706 | ambiguous | -1.084 | Destabilizing | 0.221 | N | 0.643 | neutral | None | None | None | None | N |
| Y/S | 0.2206 | likely_benign | 0.1978 | benign | -2.411 | Highly Destabilizing | None | N | 0.362 | neutral | N | 0.479666308 | None | None | N |
| Y/T | 0.4165 | ambiguous | 0.3981 | ambiguous | -2.158 | Highly Destabilizing | 0.039 | N | 0.524 | neutral | None | None | None | None | N |
| Y/V | 0.2873 | likely_benign | 0.2663 | benign | -1.388 | Destabilizing | 0.016 | N | 0.489 | neutral | None | None | None | None | N |
| Y/W | 0.4356 | ambiguous | 0.4133 | ambiguous | -0.149 | Destabilizing | 0.869 | D | 0.549 | 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.