Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5776 | 17551;17552;17553 | chr2:178731440;178731439;178731438 | chr2:179596167;179596166;179596165 |
| N2AB | 5459 | 16600;16601;16602 | chr2:178731440;178731439;178731438 | chr2:179596167;179596166;179596165 |
| N2A | 4532 | 13819;13820;13821 | chr2:178731440;178731439;178731438 | chr2:179596167;179596166;179596165 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/M | rs928844023  |
None | 0.655 | D | 0.593 | 0.146 | None | 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 |
| I/M | rs928844023 |
None | 0.655 | D | 0.593 | 0.146 | None | gnomAD-4.0.0 | 3.84352E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.17879E-06 | 0 | 0 |
| I/T | None | None | 0.007 | N | 0.367 | 0.275 | 0.642082960585 | gnomAD-4.0.0 | 1.36843E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79893E-06 | 0 | 0 |
| I/V | rs767553328 |
-1.541 | 0.001 | N | 0.121 | 0.117 | 0.401612077098 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 8.88E-06 | 0 |
| I/V | rs767553328 |
-1.541 | 0.001 | N | 0.121 | 0.117 | 0.401612077098 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 1.9305E-04 | None | 0 | 0 | 0 | 0 | 0 |
| I/V | rs767553328 |
-1.541 | 0.001 | N | 0.121 | 0.117 | 0.401612077098 | gnomAD-4.0.0 | 4.95763E-06 | None | None | None | None | N | None | 1.33518E-05 | 0 | None | 0 | 2.22886E-05 | None | 0 | 0 | 2.54282E-06 | 2.19578E-05 | 1.60138E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.3175 | likely_benign | 0.3688 | ambiguous | -2.509 | Highly Destabilizing | 0.129 | N | 0.471 | neutral | None | None | None | None | N |
| I/C | 0.5706 | likely_pathogenic | 0.578 | pathogenic | -1.919 | Destabilizing | 0.951 | D | 0.621 | neutral | None | None | None | None | N |
| I/D | 0.7796 | likely_pathogenic | 0.8132 | pathogenic | -3.046 | Highly Destabilizing | 0.418 | N | 0.659 | neutral | None | None | None | None | N |
| I/E | 0.6436 | likely_pathogenic | 0.6784 | pathogenic | -2.937 | Highly Destabilizing | 0.418 | N | 0.628 | neutral | None | None | None | None | N |
| I/F | 0.1481 | likely_benign | 0.1657 | benign | -1.717 | Destabilizing | 0.716 | D | 0.603 | neutral | None | None | None | None | N |
| I/G | 0.616 | likely_pathogenic | 0.6679 | pathogenic | -2.962 | Highly Destabilizing | 0.418 | N | 0.627 | neutral | None | None | None | None | N |
| I/H | 0.4846 | ambiguous | 0.5136 | ambiguous | -2.417 | Highly Destabilizing | 0.005 | N | 0.559 | neutral | None | None | None | None | N |
| I/K | 0.405 | ambiguous | 0.4306 | ambiguous | -2.02 | Highly Destabilizing | 0.007 | N | 0.505 | neutral | N | 0.49310275 | None | None | N |
| I/L | 0.1278 | likely_benign | 0.1368 | benign | -1.237 | Destabilizing | 0.047 | N | 0.326 | neutral | N | 0.505467511 | None | None | N |
| I/M | 0.1078 | likely_benign | 0.1186 | benign | -1.024 | Destabilizing | 0.655 | D | 0.593 | neutral | D | 0.537003926 | None | None | N |
| I/N | 0.2953 | likely_benign | 0.3182 | benign | -2.124 | Highly Destabilizing | 0.418 | N | 0.653 | neutral | None | None | None | None | N |
| I/P | 0.9177 | likely_pathogenic | 0.9354 | pathogenic | -1.639 | Destabilizing | 0.836 | D | 0.691 | prob.neutral | None | None | None | None | N |
| I/Q | 0.4813 | ambiguous | 0.5198 | ambiguous | -2.171 | Highly Destabilizing | 0.716 | D | 0.693 | prob.neutral | None | None | None | None | N |
| I/R | 0.305 | likely_benign | 0.3298 | benign | -1.509 | Destabilizing | 0.002 | N | 0.56 | neutral | D | 0.524690777 | None | None | N |
| I/S | 0.2718 | likely_benign | 0.3058 | benign | -2.71 | Highly Destabilizing | 0.129 | N | 0.591 | neutral | None | None | None | None | N |
| I/T | 0.1377 | likely_benign | 0.1669 | benign | -2.476 | Highly Destabilizing | 0.007 | N | 0.367 | neutral | N | 0.509355965 | None | None | N |
| I/V | 0.0719 | likely_benign | 0.0782 | benign | -1.639 | Destabilizing | 0.001 | N | 0.121 | neutral | N | 0.455750767 | None | None | N |
| I/W | 0.7111 | likely_pathogenic | 0.7411 | pathogenic | -2.07 | Highly Destabilizing | 0.983 | D | 0.657 | neutral | None | None | None | None | N |
| I/Y | 0.4078 | ambiguous | 0.4172 | ambiguous | -1.848 | Destabilizing | 0.716 | D | 0.67 | 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.