Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32614 | 98065;98066;98067 | chr2:178540326;178540325;178540324 | chr2:179405053;179405052;179405051 |
| N2AB | 30973 | 93142;93143;93144 | chr2:178540326;178540325;178540324 | chr2:179405053;179405052;179405051 |
| N2A | 30046 | 90361;90362;90363 | chr2:178540326;178540325;178540324 | chr2:179405053;179405052;179405051 |
| N2B | 23549 | 70870;70871;70872 | chr2:178540326;178540325;178540324 | chr2:179405053;179405052;179405051 |
| Novex-1 | 23674 | 71245;71246;71247 | chr2:178540326;178540325;178540324 | chr2:179405053;179405052;179405051 |
| Novex-2 | 23741 | 71446;71447;71448 | chr2:178540326;178540325;178540324 | chr2:179405053;179405052;179405051 |
| 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/G | rs1393941873  |
-1.412 | 0.944 | N | 0.578 | 0.28 | 0.496560916508 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| R/G | rs1393941873 |
-1.412 | 0.944 | N | 0.578 | 0.28 | 0.496560916508 | gnomAD-4.0.0 | 1.59165E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85909E-06 | 0 | 0 |
| R/K | rs1449718785 |
None | 0.773 | N | 0.527 | 0.143 | 0.168933306366 | gnomAD-4.0.0 | 1.59167E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85914E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.7349 | likely_pathogenic | 0.7175 | pathogenic | -0.238 | Destabilizing | 0.916 | D | 0.603 | neutral | None | None | None | None | N |
| R/C | 0.4062 | ambiguous | 0.4271 | ambiguous | -0.188 | Destabilizing | 0.999 | D | 0.735 | prob.delet. | None | None | None | None | N |
| R/D | 0.9123 | likely_pathogenic | 0.9026 | pathogenic | -0.054 | Destabilizing | 0.996 | D | 0.679 | prob.neutral | None | None | None | None | N |
| R/E | 0.75 | likely_pathogenic | 0.7278 | pathogenic | 0.016 | Stabilizing | 0.957 | D | 0.571 | neutral | None | None | None | None | N |
| R/F | 0.8896 | likely_pathogenic | 0.8751 | pathogenic | -0.382 | Destabilizing | 0.975 | D | 0.736 | prob.delet. | None | None | None | None | N |
| R/G | 0.6429 | likely_pathogenic | 0.6419 | pathogenic | -0.468 | Destabilizing | 0.944 | D | 0.578 | neutral | N | 0.476189462 | None | None | N |
| R/H | 0.2905 | likely_benign | 0.2993 | benign | -0.912 | Destabilizing | 0.999 | D | 0.537 | neutral | None | None | None | None | N |
| R/I | 0.7026 | likely_pathogenic | 0.6777 | pathogenic | 0.343 | Stabilizing | 0.95 | D | 0.699 | prob.neutral | None | None | None | None | N |
| R/K | 0.1695 | likely_benign | 0.1871 | benign | -0.258 | Destabilizing | 0.773 | D | 0.527 | neutral | N | 0.387378399 | None | None | N |
| R/L | 0.5618 | ambiguous | 0.5536 | ambiguous | 0.343 | Stabilizing | 0.653 | D | 0.599 | neutral | None | None | None | None | N |
| R/M | 0.6629 | likely_pathogenic | 0.654 | pathogenic | 0.062 | Stabilizing | 0.63 | D | 0.555 | neutral | N | 0.472191705 | None | None | N |
| R/N | 0.8747 | likely_pathogenic | 0.8719 | pathogenic | 0.193 | Stabilizing | 0.987 | D | 0.56 | neutral | None | None | None | None | N |
| R/P | 0.7848 | likely_pathogenic | 0.7413 | pathogenic | 0.17 | Stabilizing | 0.996 | D | 0.68 | prob.neutral | None | None | None | None | N |
| R/Q | 0.2508 | likely_benign | 0.2593 | benign | -0.005 | Destabilizing | 0.987 | D | 0.591 | neutral | None | None | None | None | N |
| R/S | 0.8375 | likely_pathogenic | 0.8325 | pathogenic | -0.32 | Destabilizing | 0.892 | D | 0.587 | neutral | N | 0.406441375 | None | None | N |
| R/T | 0.7283 | likely_pathogenic | 0.7178 | pathogenic | -0.105 | Destabilizing | 0.892 | D | 0.575 | neutral | N | 0.485096947 | None | None | N |
| R/V | 0.7363 | likely_pathogenic | 0.7183 | pathogenic | 0.17 | Stabilizing | 0.845 | D | 0.637 | neutral | None | None | None | None | N |
| R/W | 0.5446 | ambiguous | 0.5231 | ambiguous | -0.288 | Destabilizing | 0.999 | D | 0.769 | deleterious | N | 0.483548011 | None | None | N |
| R/Y | 0.7473 | likely_pathogenic | 0.734 | pathogenic | 0.089 | Stabilizing | 0.987 | D | 0.692 | prob.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.