Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1373 | 4342;4343;4344 | chr2:178778965;178778964;178778963 | chr2:179643692;179643691;179643690 |
| N2AB | 1373 | 4342;4343;4344 | chr2:178778965;178778964;178778963 | chr2:179643692;179643691;179643690 |
| N2A | 1373 | 4342;4343;4344 | chr2:178778965;178778964;178778963 | chr2:179643692;179643691;179643690 |
| N2B | 1327 | 4204;4205;4206 | chr2:178778965;178778964;178778963 | chr2:179643692;179643691;179643690 |
| Novex-1 | 1327 | 4204;4205;4206 | chr2:178778965;178778964;178778963 | chr2:179643692;179643691;179643690 |
| Novex-2 | 1327 | 4204;4205;4206 | chr2:178778965;178778964;178778963 | chr2:179643692;179643691;179643690 |
| Novex-3 | 1373 | 4342;4343;4344 | chr2:178778965;178778964;178778963 | chr2:179643692;179643691;179643690 |
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/T | rs867802403  |
None | 1.0 | N | 0.769 | 0.457 | None | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | I | None | 4.82E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | rs867802403 |
None | 1.0 | N | 0.769 | 0.457 | None | gnomAD-4.0.0 | 1.31411E-05 | None | None | None | None | I | None | 4.82462E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/V | rs139294675 |
0.059 | 1.0 | N | 0.697 | 0.431 | None | gnomAD-2.1.1 | 1.2E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.65E-05 | 0 |
| A/V | rs139294675 |
0.059 | 1.0 | N | 0.697 | 0.431 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/V | rs139294675 |
0.059 | 1.0 | N | 0.697 | 0.431 | None | gnomAD-4.0.0 | 1.61102E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.11875E-05 | 0 | 1.60051E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.8311 | likely_pathogenic | 0.7913 | pathogenic | -0.736 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | I |
| A/D | 0.9111 | likely_pathogenic | 0.8549 | pathogenic | -0.235 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | I |
| A/E | 0.8995 | likely_pathogenic | 0.8628 | pathogenic | -0.226 | Destabilizing | 1.0 | D | 0.851 | deleterious | N | 0.505198093 | None | None | I |
| A/F | 0.894 | likely_pathogenic | 0.8868 | pathogenic | -0.676 | Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | I |
| A/G | 0.461 | ambiguous | 0.3953 | ambiguous | -0.942 | Destabilizing | 1.0 | D | 0.621 | neutral | D | 0.615359507 | None | None | I |
| A/H | 0.9399 | likely_pathogenic | 0.905 | pathogenic | -0.973 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | I |
| A/I | 0.8333 | likely_pathogenic | 0.8077 | pathogenic | -0.015 | Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | I |
| A/K | 0.9685 | likely_pathogenic | 0.9496 | pathogenic | -0.645 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | I |
| A/L | 0.7891 | likely_pathogenic | 0.7802 | pathogenic | -0.015 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | I |
| A/M | 0.7951 | likely_pathogenic | 0.7552 | pathogenic | -0.156 | Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | I |
| A/N | 0.8603 | likely_pathogenic | 0.797 | pathogenic | -0.48 | Destabilizing | 1.0 | D | 0.896 | deleterious | None | None | None | None | I |
| A/P | 0.9925 | likely_pathogenic | 0.9978 | pathogenic | -0.185 | Destabilizing | 1.0 | D | 0.871 | deleterious | D | 0.638654644 | None | None | I |
| A/Q | 0.8742 | likely_pathogenic | 0.8239 | pathogenic | -0.533 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | I |
| A/R | 0.9182 | likely_pathogenic | 0.8942 | pathogenic | -0.485 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | I |
| A/S | 0.1771 | likely_benign | 0.1421 | benign | -0.989 | Destabilizing | 1.0 | D | 0.63 | neutral | N | 0.514095914 | None | None | I |
| A/T | 0.3348 | likely_benign | 0.2728 | benign | -0.858 | Destabilizing | 1.0 | D | 0.769 | deleterious | N | 0.513555313 | None | None | I |
| A/V | 0.5362 | ambiguous | 0.5012 | ambiguous | -0.185 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | N | 0.486333656 | None | None | I |
| A/W | 0.9872 | likely_pathogenic | 0.9854 | pathogenic | -1.019 | Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | I |
| A/Y | 0.9415 | likely_pathogenic | 0.9282 | pathogenic | -0.552 | Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | I |
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.