Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18956 | 57091;57092;57093 | chr2:178598844;178598843;178598842 | chr2:179463571;179463570;179463569 |
| N2AB | 17315 | 52168;52169;52170 | chr2:178598844;178598843;178598842 | chr2:179463571;179463570;179463569 |
| N2A | 16388 | 49387;49388;49389 | chr2:178598844;178598843;178598842 | chr2:179463571;179463570;179463569 |
| N2B | 9891 | 29896;29897;29898 | chr2:178598844;178598843;178598842 | chr2:179463571;179463570;179463569 |
| Novex-1 | 10016 | 30271;30272;30273 | chr2:178598844;178598843;178598842 | chr2:179463571;179463570;179463569 |
| Novex-2 | 10083 | 30472;30473;30474 | chr2:178598844;178598843;178598842 | chr2:179463571;179463570;179463569 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/D | rs764791747  |
None | 0.976 | N | 0.738 | 0.391 | 0.425851741357 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.94477E-04 | None | 0 | 0 | 0 | 0 | 0 |
| G/D | rs764791747 |
None | 0.976 | N | 0.738 | 0.391 | 0.425851741357 | gnomAD-4.0.0 | 6.57255E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.94932E-04 | None | 0 | 0 | 0 | 0 | 0 |
| G/V | rs764791747 |
-0.385 | 0.994 | D | 0.841 | 0.522 | 0.567643136482 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| G/V | rs764791747 |
-0.385 | 0.994 | D | 0.841 | 0.522 | 0.567643136482 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/V | rs764791747 |
-0.385 | 0.994 | D | 0.841 | 0.522 | 0.567643136482 | gnomAD-4.0.0 | 6.57765E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47119E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.6979 | likely_pathogenic | 0.6308 | pathogenic | -0.47 | Destabilizing | 0.958 | D | 0.705 | prob.neutral | N | 0.495142396 | None | None | N |
| G/C | 0.807 | likely_pathogenic | 0.7612 | pathogenic | -0.889 | Destabilizing | 0.999 | D | 0.838 | deleterious | D | 0.536012168 | None | None | N |
| G/D | 0.596 | likely_pathogenic | 0.4873 | ambiguous | -0.999 | Destabilizing | 0.976 | D | 0.738 | prob.delet. | N | 0.479645033 | None | None | N |
| G/E | 0.8454 | likely_pathogenic | 0.7678 | pathogenic | -1.165 | Destabilizing | 0.991 | D | 0.822 | deleterious | None | None | None | None | N |
| G/F | 0.9578 | likely_pathogenic | 0.9391 | pathogenic | -1.206 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| G/H | 0.9137 | likely_pathogenic | 0.8452 | pathogenic | -0.745 | Destabilizing | 0.998 | D | 0.843 | deleterious | None | None | None | None | N |
| G/I | 0.9706 | likely_pathogenic | 0.955 | pathogenic | -0.562 | Destabilizing | 0.999 | D | 0.841 | deleterious | None | None | None | None | N |
| G/K | 0.9626 | likely_pathogenic | 0.9345 | pathogenic | -1.001 | Destabilizing | 0.991 | D | 0.821 | deleterious | None | None | None | None | N |
| G/L | 0.9532 | likely_pathogenic | 0.93 | pathogenic | -0.562 | Destabilizing | 0.995 | D | 0.837 | deleterious | None | None | None | None | N |
| G/M | 0.9535 | likely_pathogenic | 0.9304 | pathogenic | -0.406 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| G/N | 0.5575 | ambiguous | 0.4077 | ambiguous | -0.621 | Destabilizing | 0.086 | N | 0.514 | neutral | None | None | None | None | N |
| G/P | 0.9975 | likely_pathogenic | 0.9971 | pathogenic | -0.497 | Destabilizing | 0.998 | D | 0.854 | deleterious | None | None | None | None | N |
| G/Q | 0.9093 | likely_pathogenic | 0.8523 | pathogenic | -0.971 | Destabilizing | 0.991 | D | 0.859 | deleterious | None | None | None | None | N |
| G/R | 0.9423 | likely_pathogenic | 0.9024 | pathogenic | -0.473 | Destabilizing | 0.988 | D | 0.853 | deleterious | N | 0.516640465 | None | None | N |
| G/S | 0.4582 | ambiguous | 0.3527 | ambiguous | -0.74 | Destabilizing | 0.919 | D | 0.763 | deleterious | N | 0.491988844 | None | None | N |
| G/T | 0.818 | likely_pathogenic | 0.7358 | pathogenic | -0.849 | Destabilizing | 0.991 | D | 0.819 | deleterious | None | None | None | None | N |
| G/V | 0.9369 | likely_pathogenic | 0.9147 | pathogenic | -0.497 | Destabilizing | 0.994 | D | 0.841 | deleterious | D | 0.523984299 | None | None | N |
| G/W | 0.9408 | likely_pathogenic | 0.9192 | pathogenic | -1.349 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| G/Y | 0.9026 | likely_pathogenic | 0.8525 | pathogenic | -1.013 | Destabilizing | 1.0 | D | 0.845 | 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.