Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18628 | 56107;56108;56109 | chr2:178601022;178601021;178601020 | chr2:179465749;179465748;179465747 |
| N2AB | 16987 | 51184;51185;51186 | chr2:178601022;178601021;178601020 | chr2:179465749;179465748;179465747 |
| N2A | 16060 | 48403;48404;48405 | chr2:178601022;178601021;178601020 | chr2:179465749;179465748;179465747 |
| N2B | 9563 | 28912;28913;28914 | chr2:178601022;178601021;178601020 | chr2:179465749;179465748;179465747 |
| Novex-1 | 9688 | 29287;29288;29289 | chr2:178601022;178601021;178601020 | chr2:179465749;179465748;179465747 |
| Novex-2 | 9755 | 29488;29489;29490 | chr2:178601022;178601021;178601020 | chr2:179465749;179465748;179465747 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/E | rs781398210  |
0.125 | 0.999 | N | 0.589 | 0.425 | 0.374255764437 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.68E-05 | 0 |
| K/E | rs781398210 |
0.125 | 0.999 | N | 0.589 | 0.425 | 0.374255764437 | gnomAD-4.0.0 | 2.46413E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.14916E-05 | 0 | 1.65711E-05 |
| K/R | rs747690782 |
-0.203 | 0.999 | N | 0.556 | 0.259 | 0.324986149311 | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.30779E-04 | None | 0 | 0 | 0 |
| K/R | rs747690782 |
-0.203 | 0.999 | N | 0.556 | 0.259 | 0.324986149311 | gnomAD-4.0.0 | 4.79132E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.95959E-05 | 1.65711E-05 |
| K/T | None | None | 1.0 | N | 0.629 | 0.457 | 0.430923071578 | gnomAD-4.0.0 | 6.84475E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.52245E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.4516 | ambiguous | 0.379 | ambiguous | -0.715 | Destabilizing | 0.999 | D | 0.574 | neutral | None | None | None | None | N |
| K/C | 0.8552 | likely_pathogenic | 0.8118 | pathogenic | -0.678 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| K/D | 0.7255 | likely_pathogenic | 0.6696 | pathogenic | -0.124 | Destabilizing | 1.0 | D | 0.651 | neutral | None | None | None | None | N |
| K/E | 0.2266 | likely_benign | 0.1891 | benign | 0.024 | Stabilizing | 0.999 | D | 0.589 | neutral | N | 0.434967276 | None | None | N |
| K/F | 0.9086 | likely_pathogenic | 0.8629 | pathogenic | -0.288 | Destabilizing | 1.0 | D | 0.728 | prob.delet. | None | None | None | None | N |
| K/G | 0.5439 | ambiguous | 0.466 | ambiguous | -1.092 | Destabilizing | 1.0 | D | 0.659 | neutral | None | None | None | None | N |
| K/H | 0.5457 | ambiguous | 0.4751 | ambiguous | -1.202 | Destabilizing | 1.0 | D | 0.623 | neutral | None | None | None | None | N |
| K/I | 0.513 | ambiguous | 0.4413 | ambiguous | 0.277 | Stabilizing | 1.0 | D | 0.749 | deleterious | D | 0.532477967 | None | None | N |
| K/L | 0.4635 | ambiguous | 0.403 | ambiguous | 0.277 | Stabilizing | 1.0 | D | 0.659 | neutral | None | None | None | None | N |
| K/M | 0.333 | likely_benign | 0.2801 | benign | -0.04 | Destabilizing | 1.0 | D | 0.617 | neutral | None | None | None | None | N |
| K/N | 0.583 | likely_pathogenic | 0.5093 | ambiguous | -0.549 | Destabilizing | 1.0 | D | 0.643 | neutral | N | 0.456113339 | None | None | N |
| K/P | 0.619 | likely_pathogenic | 0.5598 | ambiguous | -0.025 | Destabilizing | 1.0 | D | 0.622 | neutral | None | None | None | None | N |
| K/Q | 0.1738 | likely_benign | 0.1413 | benign | -0.499 | Destabilizing | 1.0 | D | 0.626 | neutral | N | 0.47273623 | None | None | N |
| K/R | 0.101 | likely_benign | 0.0958 | benign | -0.529 | Destabilizing | 0.999 | D | 0.556 | neutral | N | 0.472600157 | None | None | N |
| K/S | 0.6074 | likely_pathogenic | 0.5209 | ambiguous | -1.195 | Destabilizing | 0.999 | D | 0.585 | neutral | None | None | None | None | N |
| K/T | 0.2758 | likely_benign | 0.2236 | benign | -0.824 | Destabilizing | 1.0 | D | 0.629 | neutral | N | 0.430524248 | None | None | N |
| K/V | 0.4365 | ambiguous | 0.3703 | ambiguous | -0.025 | Destabilizing | 1.0 | D | 0.698 | prob.neutral | None | None | None | None | N |
| K/W | 0.8743 | likely_pathogenic | 0.8297 | pathogenic | -0.184 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | N |
| K/Y | 0.8022 | likely_pathogenic | 0.7546 | pathogenic | 0.08 | Stabilizing | 1.0 | D | 0.697 | prob.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.