Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 117 | 574;575;576 | chr2:178800629;178800628;178800627 | chr2:179665356;179665355;179665354 |
| N2AB | 117 | 574;575;576 | chr2:178800629;178800628;178800627 | chr2:179665356;179665355;179665354 |
| N2A | 117 | 574;575;576 | chr2:178800629;178800628;178800627 | chr2:179665356;179665355;179665354 |
| N2B | 117 | 574;575;576 | chr2:178800629;178800628;178800627 | chr2:179665356;179665355;179665354 |
| Novex-1 | 117 | 574;575;576 | chr2:178800629;178800628;178800627 | chr2:179665356;179665355;179665354 |
| Novex-2 | 117 | 574;575;576 | chr2:178800629;178800628;178800627 | chr2:179665356;179665355;179665354 |
| Novex-3 | 117 | 574;575;576 | chr2:178800629;178800628;178800627 | chr2:179665356;179665355;179665354 |
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/L | rs2094009394  |
None | 0.001 | N | 0.303 | 0.271 | 0.417843521124 | gnomAD-4.0.0 | 1.59457E-06 | None | None | None | -0.279(TCAP) | N | None | 0 | 0 | None | 0 | 2.77423E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.3755 | ambiguous | 0.4396 | ambiguous | -0.609 | Destabilizing | 0.502 | D | 0.436 | neutral | None | None | None | -0.274(TCAP) | N |
| Q/C | 0.9733 | likely_pathogenic | 0.9823 | pathogenic | -0.012 | Destabilizing | 0.961 | D | 0.609 | neutral | None | None | None | -0.189(TCAP) | N |
| Q/D | 0.8877 | likely_pathogenic | 0.9147 | pathogenic | -0.013 | Destabilizing | 0.651 | D | 0.351 | neutral | None | None | None | -0.024(TCAP) | N |
| Q/E | 0.1427 | likely_benign | 0.154 | benign | 0.058 | Stabilizing | 0.209 | N | 0.409 | neutral | N | 0.270668891 | None | -0.1(TCAP) | N |
| Q/F | 0.9714 | likely_pathogenic | 0.9841 | pathogenic | -0.388 | Destabilizing | 0.496 | N | 0.577 | neutral | None | None | None | -0.65(TCAP) | N |
| Q/G | 0.6741 | likely_pathogenic | 0.737 | pathogenic | -0.925 | Destabilizing | 0.671 | D | 0.446 | neutral | None | None | None | -0.277(TCAP) | N |
| Q/H | 0.7826 | likely_pathogenic | 0.834 | pathogenic | -0.605 | Destabilizing | 0.868 | D | 0.304 | neutral | N | 0.50558269 | None | 0.072(TCAP) | N |
| Q/I | 0.8153 | likely_pathogenic | 0.8846 | pathogenic | 0.177 | Stabilizing | 0.413 | N | 0.485 | neutral | None | None | None | -0.279(TCAP) | N |
| Q/K | 0.2227 | likely_benign | 0.2649 | benign | -0.145 | Destabilizing | 0.38 | N | 0.401 | neutral | N | 0.456845499 | None | -0.565(TCAP) | N |
| Q/L | 0.5073 | ambiguous | 0.621 | pathogenic | 0.177 | Stabilizing | 0.001 | N | 0.303 | neutral | N | 0.446527736 | None | -0.279(TCAP) | N |
| Q/M | 0.6963 | likely_pathogenic | 0.7566 | pathogenic | 0.455 | Stabilizing | 0.413 | N | 0.309 | neutral | None | None | None | 0.479(TCAP) | N |
| Q/N | 0.7527 | likely_pathogenic | 0.7923 | pathogenic | -0.683 | Destabilizing | 0.868 | D | 0.339 | neutral | None | None | None | -0.737(TCAP) | N |
| Q/P | 0.3556 | ambiguous | 0.4179 | ambiguous | -0.054 | Destabilizing | 0.832 | D | 0.385 | neutral | N | 0.454532338 | None | -0.274(TCAP) | N |
| Q/R | 0.2788 | likely_benign | 0.3413 | ambiguous | -0.028 | Destabilizing | 0.287 | N | 0.394 | neutral | N | 0.459926449 | None | -0.395(TCAP) | N |
| Q/S | 0.5442 | ambiguous | 0.5991 | pathogenic | -0.797 | Destabilizing | 0.671 | D | 0.361 | neutral | None | None | None | -0.74(TCAP) | N |
| Q/T | 0.5731 | likely_pathogenic | 0.6444 | pathogenic | -0.53 | Destabilizing | 0.038 | N | 0.386 | neutral | None | None | None | -0.743(TCAP) | N |
| Q/V | 0.6411 | likely_pathogenic | 0.7454 | pathogenic | -0.054 | Destabilizing | 0.057 | N | 0.474 | neutral | None | None | None | -0.274(TCAP) | N |
| Q/W | 0.9564 | likely_pathogenic | 0.9757 | pathogenic | -0.241 | Destabilizing | 0.992 | D | 0.605 | neutral | None | None | None | -0.777(TCAP) | N |
| Q/Y | 0.9347 | likely_pathogenic | 0.9606 | pathogenic | -0.033 | Destabilizing | 0.799 | D | 0.369 | neutral | None | None | None | -0.559(TCAP) | 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.