Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9715 | 29368;29369;29370 | chr2:178706731;178706730;178706729 | chr2:179571458;179571457;179571456 |
| N2AB | 9398 | 28417;28418;28419 | chr2:178706731;178706730;178706729 | chr2:179571458;179571457;179571456 |
| N2A | 8471 | 25636;25637;25638 | chr2:178706731;178706730;178706729 | chr2:179571458;179571457;179571456 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/E | None | None | 1.0 | None | 0.817 | 0.546 | 0.506494895843 | gnomAD-4.0.0 | 1.37373E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.80376E-06 | 0 | 0 |
| A/G | rs533172128  |
-1.446 | 1.0 | None | 0.629 | 0.451 | None | gnomAD-2.1.1 | 4.06E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.03E-05 | 1.68407E-04 |
| A/G | rs533172128 |
-1.446 | 1.0 | None | 0.629 | 0.451 | None | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/G | rs533172128 |
-1.446 | 1.0 | None | 0.629 | 0.451 | None | gnomAD-4.0.0 | 2.86075E-05 | None | None | None | None | N | None | 1.34055E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 3.65401E-05 | 0 | 3.21585E-05 |
| A/P | rs1359943299 |
-0.326 | 1.0 | None | 0.848 | 0.569 | 0.463157528383 | gnomAD-2.1.1 | 4.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.38E-05 | None | 0 | 0 | 0 |
| A/P | rs1359943299 |
-0.326 | 1.0 | None | 0.848 | 0.569 | 0.463157528383 | gnomAD-4.0.0 | 1.60532E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.45756E-05 | 0 |
| A/T | None | None | 0.996 | None | 0.636 | 0.409 | 0.344483371355 | gnomAD-4.0.0 | 1.60532E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.88198E-06 | 0 | 0 |
| A/V | rs533172128 |
0.297 | 0.977 | None | 0.363 | 0.295 | 0.329282125956 | gnomAD-2.1.1 | 2.44E-05 | None | None | None | None | N | None | 0 | 1.17751E-04 | None | 0 | 0 | None | 3.39E-05 | None | 0 | 8.92E-06 | 0 |
| A/V | rs533172128 |
0.297 | 0.977 | None | 0.363 | 0.295 | 0.329282125956 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/V | rs533172128 |
0.297 | 0.977 | None | 0.363 | 0.295 | 0.329282125956 | gnomAD-4.0.0 | 9.32852E-06 | None | None | None | None | N | None | 1.34055E-05 | 1.01014E-04 | None | 0 | 0 | None | 0 | 0 | 3.39908E-06 | 4.45127E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.9206 | likely_pathogenic | 0.8612 | pathogenic | -1.075 | Destabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | N |
| A/D | 0.999 | likely_pathogenic | 0.9956 | pathogenic | -1.481 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| A/E | 0.9978 | likely_pathogenic | 0.9903 | pathogenic | -1.329 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| A/F | 0.9915 | likely_pathogenic | 0.9647 | pathogenic | -0.665 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| A/G | 0.7237 | likely_pathogenic | 0.5324 | ambiguous | -1.368 | Destabilizing | 1.0 | D | 0.629 | neutral | None | None | None | None | N |
| A/H | 0.9986 | likely_pathogenic | 0.9951 | pathogenic | -1.727 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| A/I | 0.9484 | likely_pathogenic | 0.823 | pathogenic | 0.287 | Stabilizing | 0.994 | D | 0.727 | prob.delet. | None | None | None | None | N |
| A/K | 0.9991 | likely_pathogenic | 0.9965 | pathogenic | -1.106 | Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | N |
| A/L | 0.9172 | likely_pathogenic | 0.7973 | pathogenic | 0.287 | Stabilizing | 0.994 | D | 0.652 | neutral | None | None | None | None | N |
| A/M | 0.9675 | likely_pathogenic | 0.872 | pathogenic | 0.047 | Stabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| A/N | 0.9974 | likely_pathogenic | 0.9883 | pathogenic | -1.234 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| A/P | 0.9961 | likely_pathogenic | 0.9885 | pathogenic | -0.064 | Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| A/Q | 0.9952 | likely_pathogenic | 0.9848 | pathogenic | -1.085 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| A/R | 0.9958 | likely_pathogenic | 0.9896 | pathogenic | -1.167 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| A/S | 0.6891 | likely_pathogenic | 0.4473 | ambiguous | -1.743 | Destabilizing | 0.998 | D | 0.63 | neutral | None | None | None | None | N |
| A/T | 0.832 | likely_pathogenic | 0.5202 | ambiguous | -1.442 | Destabilizing | 0.996 | D | 0.636 | neutral | None | None | None | None | N |
| A/V | 0.7563 | likely_pathogenic | 0.4885 | ambiguous | -0.064 | Destabilizing | 0.977 | D | 0.363 | neutral | None | None | None | None | N |
| A/W | 0.9997 | likely_pathogenic | 0.9983 | pathogenic | -1.305 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| A/Y | 0.9978 | likely_pathogenic | 0.9912 | pathogenic | -0.731 | Destabilizing | 1.0 | D | 0.865 | deleterious | 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.