Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17296 | 52111;52112;52113 | chr2:178609424;178609423;178609422 | chr2:179474151;179474150;179474149 |
| N2AB | 15655 | 47188;47189;47190 | chr2:178609424;178609423;178609422 | chr2:179474151;179474150;179474149 |
| N2A | 14728 | 44407;44408;44409 | chr2:178609424;178609423;178609422 | chr2:179474151;179474150;179474149 |
| N2B | 8231 | 24916;24917;24918 | chr2:178609424;178609423;178609422 | chr2:179474151;179474150;179474149 |
| Novex-1 | 8356 | 25291;25292;25293 | chr2:178609424;178609423;178609422 | chr2:179474151;179474150;179474149 |
| Novex-2 | 8423 | 25492;25493;25494 | chr2:178609424;178609423;178609422 | chr2:179474151;179474150;179474149 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/C | rs1028433729  |
-0.09 | 1.0 | N | 0.785 | 0.408 | 0.578132126873 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | I | None | 6.47E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| R/C | rs1028433729 |
-0.09 | 1.0 | N | 0.785 | 0.408 | 0.578132126873 | gnomAD-4.0.0 | 3.35562E-05 | None | None | None | None | I | None | 2.99347E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 4.31997E-05 | 0 | 0 |
| R/H | rs200456782 |
-0.779 | 1.0 | N | 0.789 | 0.375 | None | gnomAD-2.1.1 | 2.14938E-04 | None | None | None | None | I | None | 4.14E-05 | 7.66131E-04 | None | 0 | 0 | None | 6.54E-05 | None | 0 | 2.19388E-04 | 2.82008E-04 |
| R/H | rs200456782 |
-0.779 | 1.0 | N | 0.789 | 0.375 | None | gnomAD-3.1.2 | 1.11951E-04 | None | None | None | None | I | None | 2.42E-05 | 1.97006E-04 | 0 | 0 | 5.85709E-04 | None | 9.43E-05 | 0 | 1.32505E-04 | 0 | 0 |
| R/H | rs200456782 |
-0.779 | 1.0 | N | 0.789 | 0.375 | None | gnomAD-4.0.0 | 1.80511E-04 | None | None | None | None | I | None | 2.67487E-05 | 4.00735E-04 | None | 0 | 7.62982E-04 | None | 7.82203E-05 | 0 | 1.84895E-04 | 2.1978E-05 | 9.62155E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.3096 | likely_benign | 0.2846 | benign | 0.034 | Stabilizing | 0.999 | D | 0.689 | prob.neutral | None | None | None | None | I |
| R/C | 0.3275 | likely_benign | 0.3348 | benign | -0.253 | Destabilizing | 1.0 | D | 0.785 | deleterious | N | 0.519644743 | None | None | I |
| R/D | 0.5405 | ambiguous | 0.5055 | ambiguous | -0.366 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | I |
| R/E | 0.2824 | likely_benign | 0.2559 | benign | -0.338 | Destabilizing | 0.999 | D | 0.729 | prob.delet. | None | None | None | None | I |
| R/F | 0.5232 | ambiguous | 0.5066 | ambiguous | -0.314 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | I |
| R/G | 0.2263 | likely_benign | 0.2095 | benign | -0.076 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | N | 0.500365549 | None | None | I |
| R/H | 0.1617 | likely_benign | 0.1659 | benign | -0.593 | Destabilizing | 1.0 | D | 0.789 | deleterious | N | 0.519124668 | None | None | I |
| R/I | 0.2228 | likely_benign | 0.2115 | benign | 0.277 | Stabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | I |
| R/K | 0.0965 | likely_benign | 0.0957 | benign | -0.193 | Destabilizing | 0.998 | D | 0.629 | neutral | None | None | None | None | I |
| R/L | 0.2533 | likely_benign | 0.2401 | benign | 0.277 | Stabilizing | 1.0 | D | 0.703 | prob.neutral | N | 0.518777951 | None | None | I |
| R/M | 0.2763 | likely_benign | 0.2635 | benign | -0.146 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | I |
| R/N | 0.476 | ambiguous | 0.4425 | ambiguous | -0.108 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | I |
| R/P | 0.2236 | likely_benign | 0.2127 | benign | 0.212 | Stabilizing | 1.0 | D | 0.764 | deleterious | N | 0.519298026 | None | None | I |
| R/Q | 0.1299 | likely_benign | 0.1306 | benign | -0.126 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | I |
| R/S | 0.468 | ambiguous | 0.436 | ambiguous | -0.221 | Destabilizing | 1.0 | D | 0.758 | deleterious | N | 0.517911159 | None | None | I |
| R/T | 0.2163 | likely_benign | 0.2029 | benign | -0.104 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | I |
| R/V | 0.2703 | likely_benign | 0.2601 | benign | 0.212 | Stabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | I |
| R/W | 0.2471 | likely_benign | 0.2496 | benign | -0.544 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | I |
| R/Y | 0.3941 | ambiguous | 0.3902 | ambiguous | -0.154 | Destabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | I |
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.