Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20288 | 61087;61088;61089 | chr2:178590863;178590862;178590861 | chr2:179455590;179455589;179455588 |
| N2AB | 18647 | 56164;56165;56166 | chr2:178590863;178590862;178590861 | chr2:179455590;179455589;179455588 |
| N2A | 17720 | 53383;53384;53385 | chr2:178590863;178590862;178590861 | chr2:179455590;179455589;179455588 |
| N2B | 11223 | 33892;33893;33894 | chr2:178590863;178590862;178590861 | chr2:179455590;179455589;179455588 |
| Novex-1 | 11348 | 34267;34268;34269 | chr2:178590863;178590862;178590861 | chr2:179455590;179455589;179455588 |
| Novex-2 | 11415 | 34468;34469;34470 | chr2:178590863;178590862;178590861 | chr2:179455590;179455589;179455588 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/G | rs370621197  |
-1.791 | 0.959 | N | 0.662 | 0.396 | None | gnomAD-2.1.1 | 7.16E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.57E-05 | 0 |
| A/G | rs370621197 |
-1.791 | 0.959 | N | 0.662 | 0.396 | None | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| A/G | rs370621197 |
-1.791 | 0.959 | N | 0.662 | 0.396 | None | gnomAD-4.0.0 | 1.30453E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.78473E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.4799 | ambiguous | 0.4347 | ambiguous | -2.084 | Highly Destabilizing | 0.999 | D | 0.679 | prob.neutral | None | None | None | None | N |
| A/D | 0.9865 | likely_pathogenic | 0.9844 | pathogenic | -2.491 | Highly Destabilizing | 0.997 | D | 0.792 | deleterious | None | None | None | None | N |
| A/E | 0.9621 | likely_pathogenic | 0.9571 | pathogenic | -2.306 | Highly Destabilizing | 0.996 | D | 0.803 | deleterious | N | 0.485424569 | None | None | N |
| A/F | 0.7805 | likely_pathogenic | 0.7673 | pathogenic | -1.007 | Destabilizing | 0.982 | D | 0.789 | deleterious | None | None | None | None | N |
| A/G | 0.3708 | ambiguous | 0.3602 | ambiguous | -1.768 | Destabilizing | 0.959 | D | 0.662 | neutral | N | 0.477662662 | None | None | N |
| A/H | 0.9825 | likely_pathogenic | 0.9809 | pathogenic | -2.04 | Highly Destabilizing | 0.999 | D | 0.751 | deleterious | None | None | None | None | N |
| A/I | 0.277 | likely_benign | 0.2657 | benign | -0.073 | Destabilizing | 0.759 | D | 0.657 | neutral | None | None | None | None | N |
| A/K | 0.9897 | likely_pathogenic | 0.9888 | pathogenic | -1.447 | Destabilizing | 0.969 | D | 0.789 | deleterious | None | None | None | None | N |
| A/L | 0.2845 | likely_benign | 0.2838 | benign | -0.073 | Destabilizing | 0.046 | N | 0.479 | neutral | None | None | None | None | N |
| A/M | 0.3184 | likely_benign | 0.3084 | benign | -0.652 | Destabilizing | 0.579 | D | 0.554 | neutral | None | None | None | None | N |
| A/N | 0.9554 | likely_pathogenic | 0.9489 | pathogenic | -1.803 | Destabilizing | 0.997 | D | 0.793 | deleterious | None | None | None | None | N |
| A/P | 0.9801 | likely_pathogenic | 0.9819 | pathogenic | -0.441 | Destabilizing | 0.996 | D | 0.807 | deleterious | N | 0.496780875 | None | None | N |
| A/Q | 0.9465 | likely_pathogenic | 0.9394 | pathogenic | -1.649 | Destabilizing | 0.991 | D | 0.809 | deleterious | None | None | None | None | N |
| A/R | 0.9788 | likely_pathogenic | 0.9775 | pathogenic | -1.492 | Destabilizing | 0.991 | D | 0.806 | deleterious | None | None | None | None | N |
| A/S | 0.2978 | likely_benign | 0.2723 | benign | -2.286 | Highly Destabilizing | 0.959 | D | 0.64 | neutral | D | 0.524831558 | None | None | N |
| A/T | 0.2274 | likely_benign | 0.2148 | benign | -1.958 | Destabilizing | 0.92 | D | 0.667 | neutral | N | 0.484664101 | None | None | N |
| A/V | 0.125 | likely_benign | 0.1204 | benign | -0.441 | Destabilizing | 0.061 | N | 0.282 | neutral | N | 0.367963132 | None | None | N |
| A/W | 0.9882 | likely_pathogenic | 0.9867 | pathogenic | -1.612 | Destabilizing | 0.999 | D | 0.768 | deleterious | None | None | None | None | N |
| A/Y | 0.9465 | likely_pathogenic | 0.9394 | pathogenic | -1.109 | Destabilizing | 0.997 | D | 0.788 | 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.