Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3379 | 10360;10361;10362 | chr2:178759152;178759151;178759150 | chr2:179623879;179623878;179623877 |
| N2AB | 3379 | 10360;10361;10362 | chr2:178759152;178759151;178759150 | chr2:179623879;179623878;179623877 |
| N2A | 3379 | 10360;10361;10362 | chr2:178759152;178759151;178759150 | chr2:179623879;179623878;179623877 |
| N2B | 3333 | 10222;10223;10224 | chr2:178759152;178759151;178759150 | chr2:179623879;179623878;179623877 |
| Novex-1 | 3333 | 10222;10223;10224 | chr2:178759152;178759151;178759150 | chr2:179623879;179623878;179623877 |
| Novex-2 | 3333 | 10222;10223;10224 | chr2:178759152;178759151;178759150 | chr2:179623879;179623878;179623877 |
| Novex-3 | 3379 | 10360;10361;10362 | chr2:178759152;178759151;178759150 | chr2:179623879;179623878;179623877 |
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/N | rs747136566  |
-0.608 | 0.055 | N | 0.411 | 0.1 | 0.151104730317 | gnomAD-2.1.1 | 4E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 2.94098E-04 | None | 0 | 8.89E-06 | 0 |
| S/N | rs747136566 |
-0.608 | 0.055 | N | 0.411 | 0.1 | 0.151104730317 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07469E-04 | 0 |
| S/N | rs747136566 |
-0.608 | 0.055 | N | 0.411 | 0.1 | 0.151104730317 | gnomAD-4.0.0 | 1.79698E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.2375E-06 | 2.63528E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0884 | likely_benign | 0.1052 | benign | -1.009 | Destabilizing | None | N | 0.109 | neutral | None | None | None | None | N |
| S/C | 0.0819 | likely_benign | 0.066 | benign | -0.766 | Destabilizing | None | N | 0.268 | neutral | N | 0.442011669 | None | None | N |
| S/D | 0.7072 | likely_pathogenic | 0.7558 | pathogenic | -0.735 | Destabilizing | 0.136 | N | 0.415 | neutral | None | None | None | None | N |
| S/E | 0.7476 | likely_pathogenic | 0.8178 | pathogenic | -0.64 | Destabilizing | 0.072 | N | 0.401 | neutral | None | None | None | None | N |
| S/F | 0.2873 | likely_benign | 0.3053 | benign | -1.0 | Destabilizing | 0.356 | N | 0.645 | neutral | None | None | None | None | N |
| S/G | 0.1359 | likely_benign | 0.1348 | benign | -1.329 | Destabilizing | 0.012 | N | 0.372 | neutral | N | 0.471617353 | None | None | N |
| S/H | 0.3761 | ambiguous | 0.3285 | benign | -1.655 | Destabilizing | None | N | 0.279 | neutral | None | None | None | None | N |
| S/I | 0.2483 | likely_benign | 0.2534 | benign | -0.232 | Destabilizing | 0.055 | N | 0.567 | neutral | N | 0.496913048 | None | None | N |
| S/K | 0.779 | likely_pathogenic | 0.7928 | pathogenic | -0.502 | Destabilizing | 0.072 | N | 0.411 | neutral | None | None | None | None | N |
| S/L | 0.1256 | likely_benign | 0.1489 | benign | -0.232 | Destabilizing | 0.016 | N | 0.457 | neutral | None | None | None | None | N |
| S/M | 0.2984 | likely_benign | 0.3093 | benign | -0.111 | Destabilizing | 0.628 | D | 0.605 | neutral | None | None | None | None | N |
| S/N | 0.2384 | likely_benign | 0.2116 | benign | -0.781 | Destabilizing | 0.055 | N | 0.411 | neutral | N | 0.479367098 | None | None | N |
| S/P | 0.8694 | likely_pathogenic | 0.935 | pathogenic | -0.458 | Destabilizing | 0.136 | N | 0.599 | neutral | None | None | None | None | N |
| S/Q | 0.57 | likely_pathogenic | 0.5714 | pathogenic | -0.804 | Destabilizing | 0.136 | N | 0.537 | neutral | None | None | None | None | N |
| S/R | 0.6012 | likely_pathogenic | 0.5872 | pathogenic | -0.597 | Destabilizing | 0.055 | N | 0.579 | neutral | N | 0.302197153 | None | None | N |
| S/T | 0.1399 | likely_benign | 0.1604 | benign | -0.706 | Destabilizing | 0.024 | N | 0.382 | neutral | N | 0.455327332 | None | None | N |
| S/V | 0.2387 | likely_benign | 0.2681 | benign | -0.458 | Destabilizing | 0.016 | N | 0.471 | neutral | None | None | None | None | N |
| S/W | 0.4001 | ambiguous | 0.4071 | ambiguous | -1.004 | Destabilizing | 0.864 | D | 0.65 | neutral | None | None | None | None | N |
| S/Y | 0.2052 | likely_benign | 0.2099 | benign | -0.681 | Destabilizing | 0.072 | N | 0.62 | 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.