Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32595 | 98008;98009;98010 | chr2:178541294;178541293;178541292 | chr2:179406021;179406020;179406019 |
| N2AB | 30954 | 93085;93086;93087 | chr2:178541294;178541293;178541292 | chr2:179406021;179406020;179406019 |
| N2A | 30027 | 90304;90305;90306 | chr2:178541294;178541293;178541292 | chr2:179406021;179406020;179406019 |
| N2B | 23530 | 70813;70814;70815 | chr2:178541294;178541293;178541292 | chr2:179406021;179406020;179406019 |
| Novex-1 | 23655 | 71188;71189;71190 | chr2:178541294;178541293;178541292 | chr2:179406021;179406020;179406019 |
| Novex-2 | 23722 | 71389;71390;71391 | chr2:178541294;178541293;178541292 | chr2:179406021;179406020;179406019 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/I | None | None | 0.791 | N | 0.437 | 0.1 | 0.312001716656 | gnomAD-4.0.0 | 1.92064E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.46955E-06 | 0 | 0 |
| M/T | rs1360084595  |
None | 0.791 | N | 0.401 | 0.175 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| M/T | rs1360084595 |
None | 0.791 | N | 0.401 | 0.175 | None | gnomAD-4.0.0 | 6.57022E-06 | None | None | None | None | N | None | 2.41255E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/A | 0.2006 | likely_benign | 0.2163 | benign | -1.153 | Destabilizing | 0.505 | D | 0.323 | neutral | None | None | None | None | N |
| M/C | 0.5025 | ambiguous | 0.4976 | ambiguous | -1.007 | Destabilizing | 0.995 | D | 0.377 | neutral | None | None | None | None | N |
| M/D | 0.7889 | likely_pathogenic | 0.8339 | pathogenic | -0.346 | Destabilizing | 0.946 | D | 0.559 | neutral | None | None | None | None | N |
| M/E | 0.3374 | likely_benign | 0.3722 | ambiguous | -0.365 | Destabilizing | 0.712 | D | 0.433 | neutral | None | None | None | None | N |
| M/F | 0.3787 | ambiguous | 0.3964 | ambiguous | -0.507 | Destabilizing | 0.982 | D | 0.386 | neutral | None | None | None | None | N |
| M/G | 0.3819 | ambiguous | 0.4123 | ambiguous | -1.4 | Destabilizing | 0.834 | D | 0.466 | neutral | None | None | None | None | N |
| M/H | 0.4122 | ambiguous | 0.4503 | ambiguous | -0.565 | Destabilizing | 0.946 | D | 0.485 | neutral | None | None | None | None | N |
| M/I | 0.3488 | ambiguous | 0.3818 | ambiguous | -0.563 | Destabilizing | 0.791 | D | 0.437 | neutral | N | 0.412020553 | None | None | N |
| M/K | 0.0913 | likely_benign | 0.0994 | benign | -0.122 | Destabilizing | 0.278 | N | 0.353 | neutral | N | 0.349009225 | None | None | N |
| M/L | 0.134 | likely_benign | 0.1345 | benign | -0.563 | Destabilizing | 0.252 | N | 0.314 | neutral | N | 0.403497071 | None | None | N |
| M/N | 0.4707 | ambiguous | 0.5279 | ambiguous | 0.017 | Stabilizing | 0.897 | D | 0.518 | neutral | None | None | None | None | N |
| M/P | 0.9504 | likely_pathogenic | 0.9571 | pathogenic | -0.731 | Destabilizing | 0.982 | D | 0.543 | neutral | None | None | None | None | N |
| M/Q | 0.1281 | likely_benign | 0.1313 | benign | -0.151 | Destabilizing | 0.712 | D | 0.405 | neutral | None | None | None | None | N |
| M/R | 0.0896 | likely_benign | 0.0983 | benign | 0.375 | Stabilizing | 0.002 | N | 0.117 | neutral | N | 0.388391545 | None | None | N |
| M/S | 0.2619 | likely_benign | 0.2786 | benign | -0.496 | Destabilizing | 0.712 | D | 0.453 | neutral | None | None | None | None | N |
| M/T | 0.0968 | likely_benign | 0.1098 | benign | -0.412 | Destabilizing | 0.791 | D | 0.401 | neutral | N | 0.392527929 | None | None | N |
| M/V | 0.0786 | likely_benign | 0.0792 | benign | -0.731 | Destabilizing | 0.61 | D | 0.346 | neutral | N | 0.414714142 | None | None | N |
| M/W | 0.651 | likely_pathogenic | 0.6983 | pathogenic | -0.446 | Destabilizing | 0.995 | D | 0.393 | neutral | None | None | None | None | N |
| M/Y | 0.6178 | likely_pathogenic | 0.6542 | pathogenic | -0.378 | Destabilizing | 0.982 | D | 0.497 | 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.