Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 10121 | 30586;30587;30588 | chr2:178702526;178702525;178702524 | chr2:179567253;179567252;179567251 |
| N2AB | 9804 | 29635;29636;29637 | chr2:178702526;178702525;178702524 | chr2:179567253;179567252;179567251 |
| N2A | 8877 | 26854;26855;26856 | chr2:178702526;178702525;178702524 | chr2:179567253;179567252;179567251 |
| 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 | rs1433870889  |
0.387 | 0.047 | None | 0.141 | 0.227 | 0.0611884634855 | gnomAD-2.1.1 | 4.01E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.56E-05 | None | 0 | None | 0 | 0 | 0 |
| Q/E | rs1433870889 |
0.387 | 0.047 | None | 0.141 | 0.227 | 0.0611884634855 | gnomAD-4.0.0 | 4.77259E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 8.31762E-05 | None | 0 | 0 | 0 | 0 | 0 |
| Q/H | rs1366841002 |
0.057 | 0.794 | None | 0.229 | 0.158 | 0.0846915920261 | gnomAD-2.1.1 | 4.01E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| Q/H | rs1366841002 |
0.057 | 0.794 | None | 0.229 | 0.158 | 0.0846915920261 | gnomAD-4.0.0 | 1.59086E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43271E-05 | 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 | 0.271 | likely_benign | 0.2623 | benign | -0.111 | Destabilizing | None | N | 0.127 | neutral | None | None | None | None | N |
| Q/C | 0.9505 | likely_pathogenic | 0.9496 | pathogenic | -0.281 | Destabilizing | 0.94 | D | 0.187 | neutral | None | None | None | None | N |
| Q/D | 0.5368 | ambiguous | 0.4732 | ambiguous | -0.219 | Destabilizing | 0.228 | N | 0.259 | neutral | None | None | None | None | N |
| Q/E | 0.1161 | likely_benign | 0.1026 | benign | -0.278 | Destabilizing | 0.047 | N | 0.141 | neutral | None | None | None | None | N |
| Q/F | 0.9426 | likely_pathogenic | 0.9323 | pathogenic | -0.579 | Destabilizing | 0.94 | D | 0.244 | neutral | None | None | None | None | N |
| Q/G | 0.433 | ambiguous | 0.4065 | ambiguous | -0.178 | Destabilizing | 0.129 | N | 0.249 | neutral | None | None | None | None | N |
| Q/H | 0.5403 | ambiguous | 0.4643 | ambiguous | 0.018 | Stabilizing | 0.794 | D | 0.229 | neutral | None | None | None | None | N |
| Q/I | 0.7498 | likely_pathogenic | 0.7387 | pathogenic | -0.028 | Destabilizing | 0.418 | N | 0.339 | neutral | None | None | None | None | N |
| Q/K | 0.1837 | likely_benign | 0.1401 | benign | -0.117 | Destabilizing | 0.001 | N | 0.104 | neutral | None | None | None | None | N |
| Q/L | 0.3694 | ambiguous | 0.3422 | ambiguous | -0.028 | Destabilizing | 0.183 | N | 0.219 | neutral | None | None | None | None | N |
| Q/M | 0.622 | likely_pathogenic | 0.6222 | pathogenic | -0.075 | Destabilizing | 0.94 | D | 0.228 | neutral | None | None | None | None | N |
| Q/N | 0.4399 | ambiguous | 0.4053 | ambiguous | -0.398 | Destabilizing | 0.418 | N | 0.245 | neutral | None | None | None | None | N |
| Q/P | 0.146 | likely_benign | 0.1195 | benign | -0.035 | Destabilizing | None | N | 0.121 | neutral | None | None | None | None | N |
| Q/R | 0.2266 | likely_benign | 0.1721 | benign | 0.057 | Stabilizing | 0.101 | N | 0.248 | neutral | None | None | None | None | N |
| Q/S | 0.3052 | likely_benign | 0.2883 | benign | -0.368 | Destabilizing | 0.061 | N | 0.159 | neutral | None | None | None | None | N |
| Q/T | 0.3651 | ambiguous | 0.3411 | ambiguous | -0.318 | Destabilizing | 0.228 | N | 0.269 | neutral | None | None | None | None | N |
| Q/V | 0.5562 | ambiguous | 0.523 | ambiguous | -0.035 | Destabilizing | 0.129 | N | 0.261 | neutral | None | None | None | None | N |
| Q/W | 0.9151 | likely_pathogenic | 0.8735 | pathogenic | -0.684 | Destabilizing | 0.983 | D | 0.212 | neutral | None | None | None | None | N |
| Q/Y | 0.8735 | likely_pathogenic | 0.8443 | pathogenic | -0.389 | Destabilizing | 0.94 | D | 0.294 | 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.