Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9348 | 28267;28268;28269 | chr2:178711194;178711193;178711192 | chr2:179575921;179575920;179575919 |
| N2AB | 9031 | 27316;27317;27318 | chr2:178711194;178711193;178711192 | chr2:179575921;179575920;179575919 |
| N2A | 8104 | 24535;24536;24537 | chr2:178711194;178711193;178711192 | chr2:179575921;179575920;179575919 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/E | rs794727987  |
-0.301 | 0.425 | None | 0.314 | 0.167 | 0.221019684889 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | I | None | 1.14863E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| Q/E | rs794727987 |
-0.301 | 0.425 | None | 0.314 | 0.167 | 0.221019684889 | gnomAD-3.1.2 | 3.95E-05 | None | None | None | None | I | None | 1.44928E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Q/E | rs794727987 |
-0.301 | 0.425 | None | 0.314 | 0.167 | 0.221019684889 | gnomAD-4.0.0 | 4.33796E-06 | None | None | None | None | I | None | 8.01346E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.60097E-05 |
| Q/H | None | None | 0.006 | None | 0.249 | 0.072 | 0.139678290688 | gnomAD-4.0.0 | 6.84179E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15934E-05 | 0 |
| Q/K | None | None | 0.425 | None | 0.295 | 0.206 | 0.202086224978 | gnomAD-4.0.0 | 1.36836E-06 | None | None | None | None | I | None | 2.98739E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15934E-05 | 0 |
| Q/R | rs1414782408 |
None | 0.642 | None | 0.273 | 0.146 | 0.195762928549 | 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 |
| Q/R | rs1414782408 |
None | 0.642 | None | 0.273 | 0.146 | 0.195762928549 | gnomAD-4.0.0 | 6.57281E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.46994E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.3359 | likely_benign | 0.3268 | benign | -0.748 | Destabilizing | 0.176 | N | 0.339 | neutral | None | None | None | None | I |
| Q/C | 0.7905 | likely_pathogenic | 0.777 | pathogenic | -0.145 | Destabilizing | 0.995 | D | 0.456 | neutral | None | None | None | None | I |
| Q/D | 0.585 | likely_pathogenic | 0.6051 | pathogenic | -0.609 | Destabilizing | 0.704 | D | 0.242 | neutral | None | None | None | None | I |
| Q/E | 0.1168 | likely_benign | 0.116 | benign | -0.545 | Destabilizing | 0.425 | N | 0.314 | neutral | None | None | None | None | I |
| Q/F | 0.6888 | likely_pathogenic | 0.6989 | pathogenic | -0.789 | Destabilizing | 0.944 | D | 0.455 | neutral | None | None | None | None | I |
| Q/G | 0.4177 | ambiguous | 0.4205 | ambiguous | -1.034 | Destabilizing | 0.495 | N | 0.404 | neutral | None | None | None | None | I |
| Q/H | 0.2706 | likely_benign | 0.2612 | benign | -1.094 | Destabilizing | 0.006 | N | 0.249 | neutral | None | None | None | None | I |
| Q/I | 0.4336 | ambiguous | 0.4281 | ambiguous | -0.037 | Destabilizing | 0.543 | D | 0.451 | neutral | None | None | None | None | I |
| Q/K | 0.1101 | likely_benign | 0.1191 | benign | -0.137 | Destabilizing | 0.425 | N | 0.295 | neutral | None | None | None | None | I |
| Q/L | 0.2128 | likely_benign | 0.218 | benign | -0.037 | Destabilizing | 0.27 | N | 0.408 | neutral | None | None | None | None | I |
| Q/M | 0.4365 | ambiguous | 0.4244 | ambiguous | 0.552 | Stabilizing | 0.944 | D | 0.385 | neutral | None | None | None | None | I |
| Q/N | 0.4363 | ambiguous | 0.4339 | ambiguous | -0.627 | Destabilizing | 0.704 | D | 0.245 | neutral | None | None | None | None | I |
| Q/P | 0.6678 | likely_pathogenic | 0.7627 | pathogenic | -0.245 | Destabilizing | 0.784 | D | 0.473 | neutral | None | None | None | None | I |
| Q/R | 0.1165 | likely_benign | 0.1244 | benign | -0.084 | Destabilizing | 0.642 | D | 0.273 | neutral | None | None | None | None | I |
| Q/S | 0.3405 | ambiguous | 0.3159 | benign | -0.769 | Destabilizing | 0.037 | N | 0.124 | neutral | None | None | None | None | I |
| Q/T | 0.2833 | likely_benign | 0.2629 | benign | -0.52 | Destabilizing | 0.013 | N | 0.249 | neutral | None | None | None | None | I |
| Q/V | 0.3301 | likely_benign | 0.3321 | benign | -0.245 | Destabilizing | 0.031 | N | 0.344 | neutral | None | None | None | None | I |
| Q/W | 0.6611 | likely_pathogenic | 0.6872 | pathogenic | -0.643 | Destabilizing | 0.995 | D | 0.473 | neutral | None | None | None | None | I |
| Q/Y | 0.5118 | ambiguous | 0.516 | ambiguous | -0.374 | Destabilizing | 0.704 | D | 0.503 | neutral | 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.