Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1299 | 4120;4121;4122 | chr2:178779297;178779296;178779295 | chr2:179644024;179644023;179644022 |
| N2AB | 1299 | 4120;4121;4122 | chr2:178779297;178779296;178779295 | chr2:179644024;179644023;179644022 |
| N2A | 1299 | 4120;4121;4122 | chr2:178779297;178779296;178779295 | chr2:179644024;179644023;179644022 |
| N2B | 1253 | 3982;3983;3984 | chr2:178779297;178779296;178779295 | chr2:179644024;179644023;179644022 |
| Novex-1 | 1253 | 3982;3983;3984 | chr2:178779297;178779296;178779295 | chr2:179644024;179644023;179644022 |
| Novex-2 | 1253 | 3982;3983;3984 | chr2:178779297;178779296;178779295 | chr2:179644024;179644023;179644022 |
| Novex-3 | 1299 | 4120;4121;4122 | chr2:178779297;178779296;178779295 | chr2:179644024;179644023;179644022 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/S | rs1219843676  |
-0.417 | 0.17 | N | 0.196 | 0.064 | 0.0762999501168 | gnomAD-2.1.1 | 4E-06 | None | None | None | None | N | None | 0 | 0 | None | 9.95E-05 | 0 | None | 0 | None | 0 | 0 | 0 |
| N/S | rs1219843676 |
-0.417 | 0.17 | N | 0.196 | 0.064 | 0.0762999501168 | gnomAD-4.0.0 | 1.59118E-06 | None | None | None | None | N | None | 0 | 0 | None | 4.76735E-05 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| N/Y | rs1304157069 |
None | 0.997 | N | 0.665 | 0.491 | 0.468753983522 | gnomAD-4.0.0 | 1.20051E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31272E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.884 | likely_pathogenic | 0.8884 | pathogenic | -0.519 | Destabilizing | 0.91 | D | 0.389 | neutral | None | None | None | None | N |
| N/C | 0.9341 | likely_pathogenic | 0.9318 | pathogenic | 0.037 | Stabilizing | 0.999 | D | 0.683 | prob.neutral | None | None | None | None | N |
| N/D | 0.6231 | likely_pathogenic | 0.6245 | pathogenic | 0.245 | Stabilizing | 0.939 | D | 0.375 | neutral | N | 0.41703021 | None | None | N |
| N/E | 0.9552 | likely_pathogenic | 0.9638 | pathogenic | 0.296 | Stabilizing | 0.953 | D | 0.433 | neutral | None | None | None | None | N |
| N/F | 0.9908 | likely_pathogenic | 0.9905 | pathogenic | -0.675 | Destabilizing | 0.998 | D | 0.692 | prob.neutral | None | None | None | None | N |
| N/G | 0.8325 | likely_pathogenic | 0.8457 | pathogenic | -0.763 | Destabilizing | 0.91 | D | 0.378 | neutral | None | None | None | None | N |
| N/H | 0.7276 | likely_pathogenic | 0.7186 | pathogenic | -0.478 | Destabilizing | 0.997 | D | 0.531 | neutral | N | 0.456783811 | None | None | N |
| N/I | 0.9527 | likely_pathogenic | 0.9516 | pathogenic | 0.061 | Stabilizing | 0.991 | D | 0.693 | prob.neutral | N | 0.510208841 | None | None | N |
| N/K | 0.976 | likely_pathogenic | 0.9779 | pathogenic | 0.118 | Stabilizing | 0.939 | D | 0.445 | neutral | N | 0.437865064 | None | None | N |
| N/L | 0.9505 | likely_pathogenic | 0.9508 | pathogenic | 0.061 | Stabilizing | 0.986 | D | 0.608 | neutral | None | None | None | None | N |
| N/M | 0.9617 | likely_pathogenic | 0.9609 | pathogenic | 0.079 | Stabilizing | 0.999 | D | 0.635 | neutral | None | None | None | None | N |
| N/P | 0.8797 | likely_pathogenic | 0.8845 | pathogenic | -0.104 | Destabilizing | 0.993 | D | 0.667 | neutral | None | None | None | None | N |
| N/Q | 0.9544 | likely_pathogenic | 0.9585 | pathogenic | -0.342 | Destabilizing | 0.993 | D | 0.559 | neutral | None | None | None | None | N |
| N/R | 0.9745 | likely_pathogenic | 0.9775 | pathogenic | 0.146 | Stabilizing | 0.986 | D | 0.552 | neutral | None | None | None | None | N |
| N/S | 0.3419 | ambiguous | 0.3425 | ambiguous | -0.406 | Destabilizing | 0.17 | N | 0.196 | neutral | N | 0.447438665 | None | None | N |
| N/T | 0.7087 | likely_pathogenic | 0.7088 | pathogenic | -0.176 | Destabilizing | 0.885 | D | 0.367 | neutral | N | 0.445593574 | None | None | N |
| N/V | 0.949 | likely_pathogenic | 0.9475 | pathogenic | -0.104 | Destabilizing | 0.986 | D | 0.678 | prob.neutral | None | None | None | None | N |
| N/W | 0.9953 | likely_pathogenic | 0.9951 | pathogenic | -0.596 | Destabilizing | 0.999 | D | 0.635 | neutral | None | None | None | None | N |
| N/Y | 0.8557 | likely_pathogenic | 0.8466 | pathogenic | -0.315 | Destabilizing | 0.997 | D | 0.665 | neutral | N | 0.491660597 | 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.