Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8881 | 26866;26867;26868 | chr2:178714017;178714016;178714015 | chr2:179578744;179578743;179578742 |
| N2AB | 8564 | 25915;25916;25917 | chr2:178714017;178714016;178714015 | chr2:179578744;179578743;179578742 |
| N2A | 7637 | 23134;23135;23136 | chr2:178714017;178714016;178714015 | chr2:179578744;179578743;179578742 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/L | rs982955034  |
-0.463 | 0.828 | N | 0.251 | 0.188 | 0.386395597597 | gnomAD-2.1.1 | 7.14E-06 | None | None | None | None | N | None | 0 | 0 | None | 9.67E-05 | 0 | None | 0 | None | 0 | 7.81E-06 | 0 |
| F/L | rs982955034 |
-0.463 | 0.828 | N | 0.251 | 0.188 | 0.386395597597 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 5.76369E-04 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| F/L | rs982955034 |
-0.463 | 0.828 | N | 0.251 | 0.188 | 0.386395597597 | gnomAD-4.0.0 | 5.57812E-06 | None | None | None | None | N | None | 0 | 0 | None | 2.02744E-04 | 0 | None | 0 | 0 | 8.4769E-07 | 0 | 3.20328E-05 |
| F/S | None | None | 0.276 | N | 0.157 | 0.191 | 0.596902567841 | gnomAD-4.0.0 | 1.59173E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02627E-05 |
| F/V | rs1174332291 |
None | 0.238 | N | 0.217 | 0.17 | 0.505701759113 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| F/V | rs1174332291 |
None | 0.238 | N | 0.217 | 0.17 | 0.505701759113 | gnomAD-4.0.0 | 9.9166E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.35626E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.3613 | ambiguous | 0.4179 | ambiguous | -1.01 | Destabilizing | 0.864 | D | 0.278 | neutral | None | None | None | None | N |
| F/C | 0.2359 | likely_benign | 0.3333 | benign | -0.531 | Destabilizing | 0.999 | D | 0.263 | neutral | N | 0.501773845 | None | None | N |
| F/D | 0.5744 | likely_pathogenic | 0.5946 | pathogenic | 0.57 | Stabilizing | 0.969 | D | 0.31 | neutral | None | None | None | None | N |
| F/E | 0.6239 | likely_pathogenic | 0.6434 | pathogenic | 0.563 | Stabilizing | 0.969 | D | 0.337 | neutral | None | None | None | None | N |
| F/G | 0.5919 | likely_pathogenic | 0.6331 | pathogenic | -1.189 | Destabilizing | 0.969 | D | 0.307 | neutral | None | None | None | None | N |
| F/H | 0.3313 | likely_benign | 0.3613 | ambiguous | 0.262 | Stabilizing | 0.999 | D | 0.259 | neutral | None | None | None | None | N |
| F/I | 0.1161 | likely_benign | 0.1452 | benign | -0.549 | Destabilizing | 0.921 | D | 0.214 | neutral | N | 0.460753942 | None | None | N |
| F/K | 0.5773 | likely_pathogenic | 0.617 | pathogenic | -0.286 | Destabilizing | 0.969 | D | 0.323 | neutral | None | None | None | None | N |
| F/L | 0.5836 | likely_pathogenic | 0.6421 | pathogenic | -0.549 | Destabilizing | 0.828 | D | 0.251 | neutral | N | 0.436434287 | None | None | N |
| F/M | 0.3938 | ambiguous | 0.4437 | ambiguous | -0.593 | Destabilizing | 0.995 | D | 0.234 | neutral | None | None | None | None | N |
| F/N | 0.3884 | ambiguous | 0.4204 | ambiguous | -0.386 | Destabilizing | 0.991 | D | 0.309 | neutral | None | None | None | None | N |
| F/P | 0.9331 | likely_pathogenic | 0.9566 | pathogenic | -0.686 | Destabilizing | 0.995 | D | 0.306 | neutral | None | None | None | None | N |
| F/Q | 0.47 | ambiguous | 0.507 | ambiguous | -0.391 | Destabilizing | 0.995 | D | 0.299 | neutral | None | None | None | None | N |
| F/R | 0.4298 | ambiguous | 0.4749 | ambiguous | 0.144 | Stabilizing | 0.995 | D | 0.3 | neutral | None | None | None | None | N |
| F/S | 0.2035 | likely_benign | 0.2294 | benign | -1.003 | Destabilizing | 0.276 | N | 0.157 | neutral | N | 0.389083058 | None | None | N |
| F/T | 0.2887 | likely_benign | 0.3148 | benign | -0.924 | Destabilizing | 0.939 | D | 0.295 | neutral | None | None | None | None | N |
| F/V | 0.1299 | likely_benign | 0.1644 | benign | -0.686 | Destabilizing | 0.238 | N | 0.217 | neutral | N | 0.414904222 | None | None | N |
| F/W | 0.3548 | ambiguous | 0.3993 | ambiguous | -0.275 | Destabilizing | 1.0 | D | 0.279 | neutral | None | None | None | None | N |
| F/Y | 0.11 | likely_benign | 0.1221 | benign | -0.322 | Destabilizing | 0.993 | D | 0.283 | neutral | N | 0.440994745 | 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.