Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28861 | 86806;86807;86808 | chr2:178559551;178559550;178559549 | chr2:179424278;179424277;179424276 |
| N2AB | 27220 | 81883;81884;81885 | chr2:178559551;178559550;178559549 | chr2:179424278;179424277;179424276 |
| N2A | 26293 | 79102;79103;79104 | chr2:178559551;178559550;178559549 | chr2:179424278;179424277;179424276 |
| N2B | 19796 | 59611;59612;59613 | chr2:178559551;178559550;178559549 | chr2:179424278;179424277;179424276 |
| Novex-1 | 19921 | 59986;59987;59988 | chr2:178559551;178559550;178559549 | chr2:179424278;179424277;179424276 |
| Novex-2 | 19988 | 60187;60188;60189 | chr2:178559551;178559550;178559549 | chr2:179424278;179424277;179424276 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | rs772173518  |
-0.726 | 0.098 | D | 0.428 | 0.103 | None | gnomAD-2.1.1 | 6.79E-05 | None | None | None | None | N | None | 0 | 2.83E-05 | None | 0 | 0 | None | 0 | None | 3.60346E-04 | 7.04E-05 | 0 |
| S/A | rs772173518 |
-0.726 | 0.098 | D | 0.428 | 0.103 | None | gnomAD-3.1.2 | 3.95E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 9.45E-05 | 0 | 7.35E-05 | 0 | 0 |
| S/A | rs772173518 |
-0.726 | 0.098 | D | 0.428 | 0.103 | None | gnomAD-4.0.0 | 4.3572E-05 | None | None | None | None | N | None | 0 | 1.69549E-05 | None | 0 | 0 | None | 3.13982E-04 | 0 | 2.87211E-05 | 0 | 2.84414E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1087 | likely_benign | 0.0971 | benign | -0.788 | Destabilizing | 0.098 | N | 0.428 | neutral | D | 0.531032385 | None | None | N |
| S/C | 0.1108 | likely_benign | 0.1012 | benign | -0.845 | Destabilizing | 0.999 | D | 0.759 | deleterious | N | 0.484915407 | None | None | N |
| S/D | 0.6554 | likely_pathogenic | 0.6218 | pathogenic | -1.329 | Destabilizing | 0.785 | D | 0.509 | neutral | None | None | None | None | N |
| S/E | 0.7259 | likely_pathogenic | 0.6962 | pathogenic | -1.248 | Destabilizing | 0.836 | D | 0.511 | neutral | None | None | None | None | N |
| S/F | 0.1612 | likely_benign | 0.1567 | benign | -0.813 | Destabilizing | 0.999 | D | 0.808 | deleterious | N | 0.48120565 | None | None | N |
| S/G | 0.1441 | likely_benign | 0.1332 | benign | -1.09 | Destabilizing | 0.871 | D | 0.434 | neutral | None | None | None | None | N |
| S/H | 0.392 | ambiguous | 0.3761 | ambiguous | -1.483 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| S/I | 0.3079 | likely_benign | 0.2803 | benign | -0.067 | Destabilizing | 0.996 | D | 0.8 | deleterious | None | None | None | None | N |
| S/K | 0.8303 | likely_pathogenic | 0.8063 | pathogenic | -0.72 | Destabilizing | 0.998 | D | 0.507 | neutral | None | None | None | None | N |
| S/L | 0.1375 | likely_benign | 0.1304 | benign | -0.067 | Destabilizing | 0.987 | D | 0.662 | neutral | None | None | None | None | N |
| S/M | 0.1552 | likely_benign | 0.1559 | benign | 0.063 | Stabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| S/N | 0.1883 | likely_benign | 0.1845 | benign | -1.076 | Destabilizing | 0.3 | N | 0.518 | neutral | None | None | None | None | N |
| S/P | 0.9834 | likely_pathogenic | 0.9785 | pathogenic | -0.274 | Destabilizing | 0.951 | D | 0.757 | deleterious | D | 0.52696004 | None | None | N |
| S/Q | 0.6477 | likely_pathogenic | 0.6215 | pathogenic | -1.147 | Destabilizing | 0.99 | D | 0.66 | neutral | None | None | None | None | N |
| S/R | 0.8132 | likely_pathogenic | 0.7742 | pathogenic | -0.699 | Destabilizing | 0.999 | D | 0.78 | deleterious | None | None | None | None | N |
| S/T | 0.0805 | likely_benign | 0.0809 | benign | -0.897 | Destabilizing | None | N | 0.343 | neutral | N | 0.484046515 | None | None | N |
| S/V | 0.2786 | likely_benign | 0.2502 | benign | -0.274 | Destabilizing | 0.99 | D | 0.724 | prob.delet. | None | None | None | None | N |
| S/W | 0.3544 | ambiguous | 0.3426 | ambiguous | -0.9 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| S/Y | 0.1622 | likely_benign | 0.1558 | benign | -0.549 | Destabilizing | 0.995 | D | 0.809 | deleterious | N | 0.483647959 | 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.