Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19702 | 59329;59330;59331 | chr2:178593015;178593014;178593013 | chr2:179457742;179457741;179457740 |
| N2AB | 18061 | 54406;54407;54408 | chr2:178593015;178593014;178593013 | chr2:179457742;179457741;179457740 |
| N2A | 17134 | 51625;51626;51627 | chr2:178593015;178593014;178593013 | chr2:179457742;179457741;179457740 |
| N2B | 10637 | 32134;32135;32136 | chr2:178593015;178593014;178593013 | chr2:179457742;179457741;179457740 |
| Novex-1 | 10762 | 32509;32510;32511 | chr2:178593015;178593014;178593013 | chr2:179457742;179457741;179457740 |
| Novex-2 | 10829 | 32710;32711;32712 | chr2:178593015;178593014;178593013 | chr2:179457742;179457741;179457740 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/H | rs1380151837  |
-0.621 | 0.006 | D | 0.196 | 0.127 | 0.167679373172 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| Q/H | rs1380151837 |
-0.621 | 0.006 | D | 0.196 | 0.127 | 0.167679373172 | gnomAD-4.0.0 | 3.18388E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.71853E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.249 | likely_benign | 0.2543 | benign | -0.512 | Destabilizing | 0.495 | N | 0.314 | neutral | None | None | None | None | N |
| Q/C | 0.688 | likely_pathogenic | 0.6933 | pathogenic | 0.145 | Stabilizing | 0.995 | D | 0.507 | neutral | None | None | None | None | N |
| Q/D | 0.5771 | likely_pathogenic | 0.5217 | ambiguous | -0.431 | Destabilizing | 0.329 | N | 0.313 | neutral | None | None | None | None | N |
| Q/E | 0.1351 | likely_benign | 0.1133 | benign | -0.389 | Destabilizing | 0.01 | N | 0.127 | neutral | N | 0.443711684 | None | None | N |
| Q/F | 0.6481 | likely_pathogenic | 0.6809 | pathogenic | -0.318 | Destabilizing | 0.893 | D | 0.54 | neutral | None | None | None | None | N |
| Q/G | 0.3324 | likely_benign | 0.3011 | benign | -0.82 | Destabilizing | 0.665 | D | 0.437 | neutral | None | None | None | None | N |
| Q/H | 0.2661 | likely_benign | 0.2593 | benign | -0.742 | Destabilizing | 0.006 | N | 0.196 | neutral | D | 0.524503484 | None | None | N |
| Q/I | 0.3364 | likely_benign | 0.3635 | ambiguous | 0.251 | Stabilizing | 0.543 | D | 0.563 | neutral | None | None | None | None | N |
| Q/K | 0.1469 | likely_benign | 0.1116 | benign | -0.395 | Destabilizing | 0.01 | N | 0.122 | neutral | N | 0.417295874 | None | None | N |
| Q/L | 0.1235 | likely_benign | 0.1246 | benign | 0.251 | Stabilizing | 0.002 | N | 0.293 | neutral | N | 0.492295065 | None | None | N |
| Q/M | 0.303 | likely_benign | 0.3278 | benign | 0.647 | Stabilizing | 0.893 | D | 0.449 | neutral | None | None | None | None | N |
| Q/N | 0.3197 | likely_benign | 0.3275 | benign | -0.749 | Destabilizing | 0.704 | D | 0.297 | neutral | None | None | None | None | N |
| Q/P | 0.5856 | likely_pathogenic | 0.515 | ambiguous | 0.027 | Stabilizing | 0.917 | D | 0.543 | neutral | N | 0.518750948 | None | None | N |
| Q/R | 0.1876 | likely_benign | 0.1541 | benign | -0.267 | Destabilizing | 0.023 | N | 0.123 | neutral | N | 0.431150606 | None | None | N |
| Q/S | 0.2583 | likely_benign | 0.2791 | benign | -0.776 | Destabilizing | 0.495 | N | 0.304 | neutral | None | None | None | None | N |
| Q/T | 0.2299 | likely_benign | 0.2421 | benign | -0.563 | Destabilizing | 0.828 | D | 0.427 | neutral | None | None | None | None | N |
| Q/V | 0.2428 | likely_benign | 0.2542 | benign | 0.027 | Stabilizing | 0.543 | D | 0.457 | neutral | None | None | None | None | N |
| Q/W | 0.6961 | likely_pathogenic | 0.6812 | pathogenic | -0.244 | Destabilizing | 0.995 | D | 0.521 | neutral | None | None | None | None | N |
| Q/Y | 0.4749 | ambiguous | 0.4733 | ambiguous | -0.048 | Destabilizing | 0.893 | D | 0.612 | 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.