Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 138 | 637;638;639 | chr2:178800566;178800565;178800564 | chr2:179665293;179665292;179665291 |
| N2AB | 138 | 637;638;639 | chr2:178800566;178800565;178800564 | chr2:179665293;179665292;179665291 |
| N2A | 138 | 637;638;639 | chr2:178800566;178800565;178800564 | chr2:179665293;179665292;179665291 |
| N2B | 138 | 637;638;639 | chr2:178800566;178800565;178800564 | chr2:179665293;179665292;179665291 |
| Novex-1 | 138 | 637;638;639 | chr2:178800566;178800565;178800564 | chr2:179665293;179665292;179665291 |
| Novex-2 | 138 | 637;638;639 | chr2:178800566;178800565;178800564 | chr2:179665293;179665292;179665291 |
| Novex-3 | 138 | 637;638;639 | chr2:178800566;178800565;178800564 | chr2:179665293;179665292;179665291 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/C | rs1561513682  |
None | 1.0 | D | 0.702 | 0.685 | 0.808692213353 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | -1.226(TCAP) | N | None | 0 | 0 | None | 0 | 5.44E-05 | None | 0 | None | 0 | 0 | 0 |
| Y/C | rs1561513682 |
None | 1.0 | D | 0.702 | 0.685 | 0.808692213353 | gnomAD-4.0.0 | 1.5905E-06 | None | None | None | -1.226(TCAP) | N | None | 0 | 0 | None | 0 | 2.773E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.967 | likely_pathogenic | 0.9719 | pathogenic | -2.614 | Highly Destabilizing | 0.993 | D | 0.609 | neutral | None | None | None | -0.516(TCAP) | N |
| Y/C | 0.7293 | likely_pathogenic | 0.7471 | pathogenic | -1.228 | Destabilizing | 1.0 | D | 0.702 | prob.neutral | D | 0.661404369 | None | -1.226(TCAP) | N |
| Y/D | 0.9746 | likely_pathogenic | 0.9711 | pathogenic | -1.261 | Destabilizing | 0.999 | D | 0.72 | prob.delet. | D | 0.608965734 | None | -0.856(TCAP) | N |
| Y/E | 0.985 | likely_pathogenic | 0.984 | pathogenic | -1.181 | Destabilizing | 0.998 | D | 0.654 | neutral | None | None | None | -1.015(TCAP) | N |
| Y/F | 0.1266 | likely_benign | 0.1218 | benign | -1.281 | Destabilizing | 0.038 | N | 0.393 | neutral | N | 0.446105768 | None | -0.563(TCAP) | N |
| Y/G | 0.9588 | likely_pathogenic | 0.963 | pathogenic | -2.918 | Highly Destabilizing | 0.999 | D | 0.688 | prob.neutral | None | None | None | -0.401(TCAP) | N |
| Y/H | 0.6983 | likely_pathogenic | 0.6635 | pathogenic | -1.195 | Destabilizing | 0.189 | N | 0.395 | neutral | D | 0.567196932 | None | -0.214(TCAP) | N |
| Y/I | 0.9118 | likely_pathogenic | 0.9171 | pathogenic | -1.682 | Destabilizing | 0.951 | D | 0.63 | neutral | None | None | None | -0.928(TCAP) | N |
| Y/K | 0.9821 | likely_pathogenic | 0.9811 | pathogenic | -1.215 | Destabilizing | 0.984 | D | 0.689 | prob.neutral | None | None | None | -1.486(TCAP) | N |
| Y/L | 0.8018 | likely_pathogenic | 0.816 | pathogenic | -1.682 | Destabilizing | 0.733 | D | 0.519 | neutral | None | None | None | -0.928(TCAP) | N |
| Y/M | 0.9195 | likely_pathogenic | 0.9241 | pathogenic | -1.325 | Destabilizing | 1.0 | D | 0.673 | neutral | None | None | None | -1.045(TCAP) | N |
| Y/N | 0.8554 | likely_pathogenic | 0.8488 | pathogenic | -1.446 | Destabilizing | 0.997 | D | 0.692 | prob.neutral | D | 0.580692744 | None | -1.115(TCAP) | N |
| Y/P | 0.999 | likely_pathogenic | 0.999 | pathogenic | -1.989 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | -0.781(TCAP) | N |
| Y/Q | 0.9487 | likely_pathogenic | 0.9494 | pathogenic | -1.485 | Destabilizing | 0.997 | D | 0.671 | neutral | None | None | None | -1.201(TCAP) | N |
| Y/R | 0.9312 | likely_pathogenic | 0.9318 | pathogenic | -0.626 | Destabilizing | 0.995 | D | 0.699 | prob.neutral | None | None | None | -1.622(TCAP) | N |
| Y/S | 0.7863 | likely_pathogenic | 0.7992 | pathogenic | -2.059 | Highly Destabilizing | 0.997 | D | 0.654 | neutral | N | 0.517431885 | None | -0.76(TCAP) | N |
| Y/T | 0.9321 | likely_pathogenic | 0.9359 | pathogenic | -1.886 | Destabilizing | 0.999 | D | 0.687 | prob.neutral | None | None | None | -0.932(TCAP) | N |
| Y/V | 0.8693 | likely_pathogenic | 0.8827 | pathogenic | -1.989 | Destabilizing | 0.993 | D | 0.59 | neutral | None | None | None | -0.781(TCAP) | N |
| Y/W | 0.6953 | likely_pathogenic | 0.698 | pathogenic | -0.756 | Destabilizing | 1.0 | D | 0.612 | neutral | None | None | None | -0.855(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.