Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9741 | 29446;29447;29448 | chr2:178706653;178706652;178706651 | chr2:179571380;179571379;179571378 |
| N2AB | 9424 | 28495;28496;28497 | chr2:178706653;178706652;178706651 | chr2:179571380;179571379;179571378 |
| N2A | 8497 | 25714;25715;25716 | chr2:178706653;178706652;178706651 | chr2:179571380;179571379;179571378 |
| 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/H | None | None | 0.002 | None | 0.11 | 0.134 | 0.380223377699 | gnomAD-4.0.0 | 1.59103E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85788E-06 | 0 | 0 |
| Q/K | rs773039731  |
0.165 | 0.425 | None | 0.225 | 0.32 | 0.351830644314 | gnomAD-2.1.1 | 2.14E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 3.07188E-04 | None | 0 | None | 0 | 0 | 0 |
| Q/K | rs773039731 |
0.165 | 0.425 | None | 0.225 | 0.32 | 0.351830644314 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 3.84911E-04 | None | 0 | 0 | 0 | 0 | 0 |
| Q/K | rs773039731 |
0.165 | 0.425 | None | 0.225 | 0.32 | 0.351830644314 | gnomAD-4.0.0 | 8.96769E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.45412E-04 | None | 0 | 0 | 0 | 0 | 2.84382E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.2251 | likely_benign | 0.2214 | benign | -0.229 | Destabilizing | 0.495 | N | 0.315 | neutral | None | None | None | None | N |
| Q/C | 0.8742 | likely_pathogenic | 0.8143 | pathogenic | 0.019 | Stabilizing | 0.995 | D | 0.373 | neutral | None | None | None | None | N |
| Q/D | 0.6651 | likely_pathogenic | 0.5498 | ambiguous | 0.318 | Stabilizing | 0.828 | D | 0.17 | neutral | None | None | None | None | N |
| Q/E | 0.1405 | likely_benign | 0.1121 | benign | 0.312 | Stabilizing | 0.425 | N | 0.263 | neutral | None | None | None | None | N |
| Q/F | 0.8793 | likely_pathogenic | 0.8116 | pathogenic | -0.414 | Destabilizing | 0.944 | D | 0.395 | neutral | None | None | None | None | N |
| Q/G | 0.4141 | ambiguous | 0.345 | ambiguous | -0.42 | Destabilizing | 0.704 | D | 0.317 | neutral | None | None | None | None | N |
| Q/H | 0.3249 | likely_benign | 0.2692 | benign | -0.171 | Destabilizing | 0.002 | N | 0.11 | neutral | None | None | None | None | N |
| Q/I | 0.6759 | likely_pathogenic | 0.5703 | pathogenic | 0.185 | Stabilizing | 0.944 | D | 0.403 | neutral | None | None | None | None | N |
| Q/K | 0.1654 | likely_benign | 0.1204 | benign | 0.136 | Stabilizing | 0.425 | N | 0.225 | neutral | None | None | None | None | N |
| Q/L | 0.3346 | likely_benign | 0.2519 | benign | 0.185 | Stabilizing | 0.642 | D | 0.331 | neutral | None | None | None | None | N |
| Q/M | 0.5377 | ambiguous | 0.5028 | ambiguous | 0.227 | Stabilizing | 0.981 | D | 0.321 | neutral | None | None | None | None | N |
| Q/N | 0.4134 | ambiguous | 0.3694 | ambiguous | -0.301 | Destabilizing | 0.704 | D | 0.163 | neutral | None | None | None | None | N |
| Q/P | 0.1293 | likely_benign | 0.1083 | benign | 0.075 | Stabilizing | 0.006 | N | 0.157 | neutral | None | None | None | None | N |
| Q/R | 0.1934 | likely_benign | 0.1347 | benign | 0.262 | Stabilizing | 0.642 | D | 0.193 | neutral | None | None | None | None | N |
| Q/S | 0.2878 | likely_benign | 0.2764 | benign | -0.318 | Destabilizing | 0.495 | N | 0.181 | neutral | None | None | None | None | N |
| Q/T | 0.3005 | likely_benign | 0.2671 | benign | -0.158 | Destabilizing | 0.704 | D | 0.299 | neutral | None | None | None | None | N |
| Q/V | 0.4752 | ambiguous | 0.3916 | ambiguous | 0.075 | Stabilizing | 0.828 | D | 0.375 | neutral | None | None | None | None | N |
| Q/W | 0.8205 | likely_pathogenic | 0.698 | pathogenic | -0.397 | Destabilizing | 0.995 | D | 0.371 | neutral | None | None | None | None | N |
| Q/Y | 0.7459 | likely_pathogenic | 0.6318 | pathogenic | -0.127 | Destabilizing | 0.704 | D | 0.358 | 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.