Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21316 | 64171;64172;64173 | chr2:178587265;178587264;178587263 | chr2:179451992;179451991;179451990 |
| N2AB | 19675 | 59248;59249;59250 | chr2:178587265;178587264;178587263 | chr2:179451992;179451991;179451990 |
| N2A | 18748 | 56467;56468;56469 | chr2:178587265;178587264;178587263 | chr2:179451992;179451991;179451990 |
| N2B | 12251 | 36976;36977;36978 | chr2:178587265;178587264;178587263 | chr2:179451992;179451991;179451990 |
| Novex-1 | 12376 | 37351;37352;37353 | chr2:178587265;178587264;178587263 | chr2:179451992;179451991;179451990 |
| Novex-2 | 12443 | 37552;37553;37554 | chr2:178587265;178587264;178587263 | chr2:179451992;179451991;179451990 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/I | rs772434894  |
-0.367 | 0.008 | N | 0.176 | 0.058 | 0.242244723065 | gnomAD-2.1.1 | 2.82E-05 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 4.46E-05 | 0 |
| V/I | rs772434894 |
-0.367 | 0.008 | N | 0.176 | 0.058 | 0.242244723065 | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 7.25E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| V/I | rs772434894 |
-0.367 | 0.008 | N | 0.176 | 0.058 | 0.242244723065 | gnomAD-4.0.0 | 2.04587E-05 | None | None | None | None | N | None | 5.34531E-05 | 3.33756E-05 | None | 0 | 2.23694E-05 | None | 0 | 0 | 1.78045E-05 | 4.39242E-05 | 1.60205E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.2959 | likely_benign | 0.27 | benign | -1.305 | Destabilizing | 0.09 | N | 0.437 | neutral | N | 0.493007141 | None | None | N |
| V/C | 0.7529 | likely_pathogenic | 0.7547 | pathogenic | -0.998 | Destabilizing | 0.001 | N | 0.239 | neutral | None | None | None | None | N |
| V/D | 0.9058 | likely_pathogenic | 0.8845 | pathogenic | -0.873 | Destabilizing | 0.773 | D | 0.639 | neutral | N | 0.501843303 | None | None | N |
| V/E | 0.8233 | likely_pathogenic | 0.8107 | pathogenic | -0.809 | Destabilizing | 0.818 | D | 0.623 | neutral | None | None | None | None | N |
| V/F | 0.4164 | ambiguous | 0.4129 | ambiguous | -0.859 | Destabilizing | 0.81 | D | 0.571 | neutral | N | 0.479229143 | None | None | N |
| V/G | 0.5784 | likely_pathogenic | 0.5362 | ambiguous | -1.67 | Destabilizing | 0.773 | D | 0.624 | neutral | N | 0.505717644 | None | None | N |
| V/H | 0.9147 | likely_pathogenic | 0.9137 | pathogenic | -1.094 | Destabilizing | 0.981 | D | 0.635 | neutral | None | None | None | None | N |
| V/I | 0.0823 | likely_benign | 0.0895 | benign | -0.387 | Destabilizing | 0.008 | N | 0.176 | neutral | N | 0.516286646 | None | None | N |
| V/K | 0.9073 | likely_pathogenic | 0.8963 | pathogenic | -1.043 | Destabilizing | 0.818 | D | 0.612 | neutral | None | None | None | None | N |
| V/L | 0.2815 | likely_benign | 0.2958 | benign | -0.387 | Destabilizing | 0.002 | N | 0.145 | neutral | N | 0.505434934 | None | None | N |
| V/M | 0.2477 | likely_benign | 0.2594 | benign | -0.436 | Destabilizing | 0.69 | D | 0.525 | neutral | None | None | None | None | N |
| V/N | 0.76 | likely_pathogenic | 0.7365 | pathogenic | -1.044 | Destabilizing | 0.932 | D | 0.655 | neutral | None | None | None | None | N |
| V/P | 0.9304 | likely_pathogenic | 0.9016 | pathogenic | -0.658 | Destabilizing | 0.932 | D | 0.628 | neutral | None | None | None | None | N |
| V/Q | 0.8045 | likely_pathogenic | 0.7877 | pathogenic | -1.067 | Destabilizing | 0.932 | D | 0.628 | neutral | None | None | None | None | N |
| V/R | 0.8762 | likely_pathogenic | 0.8552 | pathogenic | -0.675 | Destabilizing | 0.818 | D | 0.654 | neutral | None | None | None | None | N |
| V/S | 0.5195 | ambiguous | 0.4812 | ambiguous | -1.638 | Destabilizing | 0.388 | N | 0.574 | neutral | None | None | None | None | N |
| V/T | 0.425 | ambiguous | 0.4046 | ambiguous | -1.437 | Destabilizing | 0.388 | N | 0.451 | neutral | None | None | None | None | N |
| V/W | 0.9689 | likely_pathogenic | 0.9696 | pathogenic | -1.09 | Destabilizing | 0.981 | D | 0.653 | neutral | None | None | None | None | N |
| V/Y | 0.8637 | likely_pathogenic | 0.8569 | pathogenic | -0.744 | Destabilizing | 0.818 | D | 0.564 | 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.