Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17211 | 51856;51857;51858 | chr2:178609792;178609791;178609790 | chr2:179474519;179474518;179474517 |
| N2AB | 15570 | 46933;46934;46935 | chr2:178609792;178609791;178609790 | chr2:179474519;179474518;179474517 |
| N2A | 14643 | 44152;44153;44154 | chr2:178609792;178609791;178609790 | chr2:179474519;179474518;179474517 |
| N2B | 8146 | 24661;24662;24663 | chr2:178609792;178609791;178609790 | chr2:179474519;179474518;179474517 |
| Novex-1 | 8271 | 25036;25037;25038 | chr2:178609792;178609791;178609790 | chr2:179474519;179474518;179474517 |
| Novex-2 | 8338 | 25237;25238;25239 | chr2:178609792;178609791;178609790 | chr2:179474519;179474518;179474517 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/E | rs1447802224  |
None | 0.987 | N | 0.697 | 0.426 | 0.362960570912 | gnomAD-4.0.0 | 1.36901E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79967E-06 | 0 | 0 |
| G/V | rs1447802224 |
0.038 | 0.997 | D | 0.741 | 0.482 | 0.490489133298 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.49E-05 | 0 |
| G/V | rs1447802224 |
0.038 | 0.997 | D | 0.741 | 0.482 | 0.490489133298 | gnomAD-3.1.2 | 6.59E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/V | rs1447802224 |
0.038 | 0.997 | D | 0.741 | 0.482 | 0.490489133298 | gnomAD-4.0.0 | 4.34036E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.23155E-05 | None | 0 | 0 | 5.08813E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.2333 | likely_benign | 0.2619 | benign | -0.316 | Destabilizing | 0.977 | D | 0.571 | neutral | N | 0.490596492 | None | None | N |
| G/C | 0.356 | ambiguous | 0.4022 | ambiguous | -0.845 | Destabilizing | 1.0 | D | 0.726 | prob.delet. | None | None | None | None | N |
| G/D | 0.1481 | likely_benign | 0.1768 | benign | -0.667 | Destabilizing | 0.289 | N | 0.338 | neutral | None | None | None | None | N |
| G/E | 0.2638 | likely_benign | 0.3083 | benign | -0.79 | Destabilizing | 0.987 | D | 0.697 | prob.neutral | N | 0.48718945 | None | None | N |
| G/F | 0.7044 | likely_pathogenic | 0.7367 | pathogenic | -0.879 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| G/H | 0.47 | ambiguous | 0.5544 | ambiguous | -0.631 | Destabilizing | 1.0 | D | 0.72 | prob.delet. | None | None | None | None | N |
| G/I | 0.5804 | likely_pathogenic | 0.5977 | pathogenic | -0.282 | Destabilizing | 0.999 | D | 0.759 | deleterious | None | None | None | None | N |
| G/K | 0.5871 | likely_pathogenic | 0.6661 | pathogenic | -0.97 | Destabilizing | 0.99 | D | 0.692 | prob.neutral | None | None | None | None | N |
| G/L | 0.6342 | likely_pathogenic | 0.6701 | pathogenic | -0.282 | Destabilizing | 0.998 | D | 0.729 | prob.delet. | None | None | None | None | N |
| G/M | 0.6155 | likely_pathogenic | 0.6488 | pathogenic | -0.455 | Destabilizing | 1.0 | D | 0.746 | deleterious | None | None | None | None | N |
| G/N | 0.1949 | likely_benign | 0.2333 | benign | -0.603 | Destabilizing | 0.99 | D | 0.758 | deleterious | None | None | None | None | N |
| G/P | 0.9458 | likely_pathogenic | 0.9499 | pathogenic | -0.257 | Destabilizing | 0.998 | D | 0.739 | prob.delet. | None | None | None | None | N |
| G/Q | 0.4529 | ambiguous | 0.5318 | ambiguous | -0.832 | Destabilizing | 0.998 | D | 0.738 | prob.delet. | None | None | None | None | N |
| G/R | 0.5482 | ambiguous | 0.6265 | pathogenic | -0.552 | Destabilizing | 0.751 | D | 0.329 | neutral | N | 0.488052051 | None | None | N |
| G/S | 0.1507 | likely_benign | 0.1742 | benign | -0.766 | Destabilizing | 0.995 | D | 0.731 | prob.delet. | None | None | None | None | N |
| G/T | 0.3051 | likely_benign | 0.3395 | benign | -0.811 | Destabilizing | 0.995 | D | 0.728 | prob.delet. | None | None | None | None | N |
| G/V | 0.4323 | ambiguous | 0.456 | ambiguous | -0.257 | Destabilizing | 0.997 | D | 0.741 | deleterious | D | 0.540896785 | None | None | N |
| G/W | 0.6273 | likely_pathogenic | 0.6776 | pathogenic | -1.111 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | N |
| G/Y | 0.5188 | ambiguous | 0.5585 | ambiguous | -0.73 | Destabilizing | 1.0 | D | 0.769 | deleterious | 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.