Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26298 | 79117;79118;79119 | chr2:178567240;178567239;178567238 | chr2:179431967;179431966;179431965 |
| N2AB | 24657 | 74194;74195;74196 | chr2:178567240;178567239;178567238 | chr2:179431967;179431966;179431965 |
| N2A | 23730 | 71413;71414;71415 | chr2:178567240;178567239;178567238 | chr2:179431967;179431966;179431965 |
| N2B | 17233 | 51922;51923;51924 | chr2:178567240;178567239;178567238 | chr2:179431967;179431966;179431965 |
| Novex-1 | 17358 | 52297;52298;52299 | chr2:178567240;178567239;178567238 | chr2:179431967;179431966;179431965 |
| Novex-2 | 17425 | 52498;52499;52500 | chr2:178567240;178567239;178567238 | chr2:179431967;179431966;179431965 |
| 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/R | rs72648205  |
0.006 | 0.983 | N | 0.635 | 0.316 | 0.566774491594 | gnomAD-2.1.1 | 3.48857E-04 | None | None | None | None | N | None | 8.29E-05 | 1.14797E-04 | None | 2.52934E-03 | 0 | None | 0 | None | 0 | 4.68537E-04 | 8.64553E-04 |
| G/R | rs72648205 |
0.006 | 0.983 | N | 0.635 | 0.316 | 0.566774491594 | gnomAD-3.1.2 | 3.48528E-04 | None | None | None | None | N | None | 7.24E-05 | 2.62295E-04 | 0 | 3.45622E-03 | 0 | None | 0 | 0 | 5.00059E-04 | 0 | 0 |
| G/R | rs72648205 |
0.006 | 0.983 | N | 0.635 | 0.316 | 0.566774491594 | gnomAD-4.0.0 | 2.91069E-04 | None | None | None | None | N | None | 5.36322E-05 | 1.85048E-04 | None | 2.49249E-03 | 0 | None | 3.13804E-05 | 0 | 2.99126E-04 | 0 | 4.18437E-04 |
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 | 0.1834 | likely_benign | 0.1948 | benign | -0.299 | Destabilizing | 0.892 | D | 0.429 | neutral | N | 0.490542839 | None | None | N |
| G/C | 0.3405 | ambiguous | 0.3696 | ambiguous | -0.879 | Destabilizing | 0.999 | D | 0.661 | neutral | None | None | None | None | N |
| G/D | 0.4579 | ambiguous | 0.508 | ambiguous | -0.629 | Destabilizing | 0.033 | N | 0.316 | neutral | None | None | None | None | N |
| G/E | 0.5286 | ambiguous | 0.5938 | pathogenic | -0.801 | Destabilizing | 0.805 | D | 0.535 | neutral | N | 0.451523091 | None | None | N |
| G/F | 0.8037 | likely_pathogenic | 0.8132 | pathogenic | -1.08 | Destabilizing | 0.999 | D | 0.667 | neutral | None | None | None | None | N |
| G/H | 0.6369 | likely_pathogenic | 0.657 | pathogenic | -0.524 | Destabilizing | 0.997 | D | 0.609 | neutral | None | None | None | None | N |
| G/I | 0.6687 | likely_pathogenic | 0.7248 | pathogenic | -0.489 | Destabilizing | 0.987 | D | 0.691 | prob.neutral | None | None | None | None | N |
| G/K | 0.8288 | likely_pathogenic | 0.8578 | pathogenic | -0.792 | Destabilizing | 0.975 | D | 0.552 | neutral | None | None | None | None | N |
| G/L | 0.6439 | likely_pathogenic | 0.6794 | pathogenic | -0.489 | Destabilizing | 0.987 | D | 0.687 | prob.neutral | None | None | None | None | N |
| G/M | 0.6299 | likely_pathogenic | 0.6601 | pathogenic | -0.466 | Destabilizing | 0.999 | D | 0.647 | neutral | None | None | None | None | N |
| G/N | 0.305 | likely_benign | 0.3165 | benign | -0.454 | Destabilizing | 0.128 | N | 0.215 | neutral | None | None | None | None | N |
| G/P | 0.9749 | likely_pathogenic | 0.9752 | pathogenic | -0.395 | Destabilizing | 0.987 | D | 0.639 | neutral | None | None | None | None | N |
| G/Q | 0.5893 | likely_pathogenic | 0.6215 | pathogenic | -0.76 | Destabilizing | 0.987 | D | 0.64 | neutral | None | None | None | None | N |
| G/R | 0.6969 | likely_pathogenic | 0.7319 | pathogenic | -0.328 | Destabilizing | 0.983 | D | 0.635 | neutral | N | 0.489966836 | None | None | N |
| G/S | 0.1221 | likely_benign | 0.1259 | benign | -0.579 | Destabilizing | 0.916 | D | 0.431 | neutral | None | None | None | None | N |
| G/T | 0.2735 | likely_benign | 0.311 | benign | -0.685 | Destabilizing | 0.975 | D | 0.553 | neutral | None | None | None | None | N |
| G/V | 0.476 | ambiguous | 0.5359 | ambiguous | -0.395 | Destabilizing | 0.983 | D | 0.689 | prob.neutral | N | 0.505589649 | None | None | N |
| G/W | 0.6919 | likely_pathogenic | 0.7016 | pathogenic | -1.214 | Destabilizing | 0.999 | D | 0.628 | neutral | None | None | None | None | N |
| G/Y | 0.6895 | likely_pathogenic | 0.7027 | pathogenic | -0.874 | Destabilizing | 0.999 | D | 0.665 | neutral | 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.