Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32480 | 97663;97664;97665 | chr2:178542318;178542317;178542316 | chr2:179407045;179407044;179407043 |
| N2AB | 30839 | 92740;92741;92742 | chr2:178542318;178542317;178542316 | chr2:179407045;179407044;179407043 |
| N2A | 29912 | 89959;89960;89961 | chr2:178542318;178542317;178542316 | chr2:179407045;179407044;179407043 |
| N2B | 23415 | 70468;70469;70470 | chr2:178542318;178542317;178542316 | chr2:179407045;179407044;179407043 |
| Novex-1 | 23540 | 70843;70844;70845 | chr2:178542318;178542317;178542316 | chr2:179407045;179407044;179407043 |
| Novex-2 | 23607 | 71044;71045;71046 | chr2:178542318;178542317;178542316 | chr2:179407045;179407044;179407043 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/L | rs537143465  |
None | 0.999 | N | 0.58 | 0.439 | 0.177238962908 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| F/L | rs537143465 |
None | 0.999 | N | 0.58 | 0.439 | 0.177238962908 | gnomAD-4.0.0 | 1.24027E-06 | None | None | None | None | I | None | 1.33554E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 8.47949E-07 | 0 | 0 |
| F/V | None | None | 1.0 | N | 0.707 | 0.448 | 0.661285616513 | gnomAD-4.0.0 | 1.59335E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.8608E-06 | 0 | 0 |
| F/Y | rs1182394964 |
0.02 | 0.999 | N | 0.552 | 0.313 | 0.35139820857 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | I | None | 1.14811E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| F/Y | rs1182394964 |
0.02 | 0.999 | N | 0.552 | 0.313 | 0.35139820857 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| F/Y | rs1182394964 |
0.02 | 0.999 | N | 0.552 | 0.313 | 0.35139820857 | gnomAD-4.0.0 | 6.57436E-06 | None | None | None | None | I | None | 2.41348E-05 | 0 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.9877 | likely_pathogenic | 0.9768 | pathogenic | -0.969 | Destabilizing | 1.0 | D | 0.688 | prob.neutral | None | None | None | None | I |
| F/C | 0.9373 | likely_pathogenic | 0.8837 | pathogenic | -0.34 | Destabilizing | 1.0 | D | 0.789 | deleterious | N | 0.476248177 | None | None | I |
| F/D | 0.9958 | likely_pathogenic | 0.9945 | pathogenic | 0.661 | Stabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | I |
| F/E | 0.9961 | likely_pathogenic | 0.9946 | pathogenic | 0.638 | Stabilizing | 1.0 | D | 0.75 | deleterious | None | None | None | None | I |
| F/G | 0.9926 | likely_pathogenic | 0.989 | pathogenic | -1.161 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | I |
| F/H | 0.9297 | likely_pathogenic | 0.9087 | pathogenic | 0.242 | Stabilizing | 1.0 | D | 0.724 | prob.delet. | None | None | None | None | I |
| F/I | 0.9356 | likely_pathogenic | 0.8805 | pathogenic | -0.482 | Destabilizing | 1.0 | D | 0.767 | deleterious | N | 0.464799033 | None | None | I |
| F/K | 0.9939 | likely_pathogenic | 0.9919 | pathogenic | -0.116 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | I |
| F/L | 0.9945 | likely_pathogenic | 0.9894 | pathogenic | -0.482 | Destabilizing | 0.999 | D | 0.58 | neutral | N | 0.49027348 | None | None | I |
| F/M | 0.9532 | likely_pathogenic | 0.9259 | pathogenic | -0.41 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | I |
| F/N | 0.9726 | likely_pathogenic | 0.9625 | pathogenic | -0.085 | Destabilizing | 1.0 | D | 0.77 | deleterious | None | None | None | None | I |
| F/P | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -0.625 | Destabilizing | 1.0 | D | 0.764 | deleterious | None | None | None | None | I |
| F/Q | 0.9865 | likely_pathogenic | 0.9812 | pathogenic | -0.148 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | I |
| F/R | 0.9827 | likely_pathogenic | 0.9761 | pathogenic | 0.358 | Stabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | I |
| F/S | 0.9792 | likely_pathogenic | 0.9627 | pathogenic | -0.751 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | N | 0.499719683 | None | None | I |
| F/T | 0.9874 | likely_pathogenic | 0.9802 | pathogenic | -0.681 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | I |
| F/V | 0.9385 | likely_pathogenic | 0.8928 | pathogenic | -0.625 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | N | 0.442210174 | None | None | I |
| F/W | 0.7677 | likely_pathogenic | 0.7509 | pathogenic | -0.296 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | I |
| F/Y | 0.266 | likely_benign | 0.2376 | benign | -0.283 | Destabilizing | 0.999 | D | 0.552 | neutral | N | 0.391053422 | 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.