Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3105 | 9538;9539;9540 | chr2:178767917;178767916;178767915 | chr2:179632644;179632643;179632642 |
| N2AB | 3105 | 9538;9539;9540 | chr2:178767917;178767916;178767915 | chr2:179632644;179632643;179632642 |
| N2A | 3105 | 9538;9539;9540 | chr2:178767917;178767916;178767915 | chr2:179632644;179632643;179632642 |
| N2B | 3059 | 9400;9401;9402 | chr2:178767917;178767916;178767915 | chr2:179632644;179632643;179632642 |
| Novex-1 | 3059 | 9400;9401;9402 | chr2:178767917;178767916;178767915 | chr2:179632644;179632643;179632642 |
| Novex-2 | 3059 | 9400;9401;9402 | chr2:178767917;178767916;178767915 | chr2:179632644;179632643;179632642 |
| Novex-3 | 3105 | 9538;9539;9540 | chr2:178767917;178767916;178767915 | chr2:179632644;179632643;179632642 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/F | None | None | 0.001 | N | 0.245 | 0.286 | 0.178374595973 | gnomAD-4.0.0 | 6.84092E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99297E-07 | 0 | 0 |
| I/T | rs753742861  |
-2.41 | 0.042 | N | 0.481 | 0.385 | 0.588622743037 | gnomAD-2.1.1 | 2.39E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 5.29E-05 | 0 |
| I/T | rs753742861 |
-2.41 | 0.042 | N | 0.481 | 0.385 | 0.588622743037 | gnomAD-4.0.0 | 1.27249E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.28521E-05 | 0 | 0 |
| I/V | None | None | None | N | 0.12 | 0.149 | 0.207176502487 | gnomAD-4.0.0 | 6.84092E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99297E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.551 | ambiguous | 0.6719 | pathogenic | -1.96 | Destabilizing | 0.025 | N | 0.323 | neutral | None | None | None | None | N |
| I/C | 0.7989 | likely_pathogenic | 0.8474 | pathogenic | -1.18 | Destabilizing | 0.883 | D | 0.558 | neutral | None | None | None | None | N |
| I/D | 0.8898 | likely_pathogenic | 0.9393 | pathogenic | -1.715 | Destabilizing | 0.22 | N | 0.596 | neutral | None | None | None | None | N |
| I/E | 0.7496 | likely_pathogenic | 0.837 | pathogenic | -1.617 | Destabilizing | 0.22 | N | 0.563 | neutral | None | None | None | None | N |
| I/F | 0.1887 | likely_benign | 0.2032 | benign | -1.24 | Destabilizing | 0.001 | N | 0.245 | neutral | N | 0.514688941 | None | None | N |
| I/G | 0.808 | likely_pathogenic | 0.8849 | pathogenic | -2.347 | Highly Destabilizing | 0.22 | N | 0.523 | neutral | None | None | None | None | N |
| I/H | 0.6807 | likely_pathogenic | 0.7633 | pathogenic | -1.384 | Destabilizing | 0.859 | D | 0.582 | neutral | None | None | None | None | N |
| I/K | 0.6108 | likely_pathogenic | 0.7241 | pathogenic | -1.403 | Destabilizing | 0.22 | N | 0.571 | neutral | None | None | None | None | N |
| I/L | 0.1404 | likely_benign | 0.1653 | benign | -0.911 | Destabilizing | 0.019 | N | 0.256 | neutral | N | 0.502026202 | None | None | N |
| I/M | 0.1247 | likely_benign | 0.1317 | benign | -0.811 | Destabilizing | 0.427 | N | 0.523 | neutral | N | 0.516167244 | None | None | N |
| I/N | 0.4385 | ambiguous | 0.5863 | pathogenic | -1.424 | Destabilizing | 0.427 | N | 0.627 | neutral | D | 0.640255698 | None | None | N |
| I/P | 0.8539 | likely_pathogenic | 0.8928 | pathogenic | -1.235 | Destabilizing | 0.001 | N | 0.395 | neutral | None | None | None | None | N |
| I/Q | 0.6012 | likely_pathogenic | 0.6921 | pathogenic | -1.489 | Destabilizing | 0.667 | D | 0.614 | neutral | None | None | None | None | N |
| I/R | 0.5314 | ambiguous | 0.6363 | pathogenic | -0.882 | Destabilizing | 0.667 | D | 0.612 | neutral | None | None | None | None | N |
| I/S | 0.4795 | ambiguous | 0.6075 | pathogenic | -2.032 | Highly Destabilizing | 0.003 | N | 0.323 | neutral | D | 0.57964562 | None | None | N |
| I/T | 0.3835 | ambiguous | 0.4999 | ambiguous | -1.802 | Destabilizing | 0.042 | N | 0.481 | neutral | N | 0.516744004 | None | None | N |
| I/V | 0.1002 | likely_benign | 0.1142 | benign | -1.235 | Destabilizing | None | N | 0.12 | neutral | N | 0.485819424 | None | None | N |
| I/W | 0.8027 | likely_pathogenic | 0.7998 | pathogenic | -1.358 | Destabilizing | 0.958 | D | 0.6 | neutral | None | None | None | None | N |
| I/Y | 0.5144 | ambiguous | 0.5734 | pathogenic | -1.125 | Destabilizing | 0.331 | N | 0.598 | 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.