Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8670 | 26233;26234;26235 | chr2:178715178;178715177;178715176 | chr2:179579905;179579904;179579903 |
| N2AB | 8353 | 25282;25283;25284 | chr2:178715178;178715177;178715176 | chr2:179579905;179579904;179579903 |
| N2A | 7426 | 22501;22502;22503 | chr2:178715178;178715177;178715176 | chr2:179579905;179579904;179579903 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | rs1577904664  |
None | 0.012 | N | 0.146 | 0.331 | 0.252681307341 | gnomAD-4.0.0 | 5.47397E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.19622E-06 | 0 | 0 |
| P/H | rs770195041 |
-0.239 | 0.999 | D | 0.53 | 0.631 | 0.677392558384 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/H | rs770195041 |
-0.239 | 0.999 | D | 0.53 | 0.631 | 0.677392558384 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/H | rs770195041 |
-0.239 | 0.999 | D | 0.53 | 0.631 | 0.677392558384 | gnomAD-4.0.0 | 1.23948E-06 | None | None | None | None | I | None | 2.67144E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/L | rs770195041 |
None | 0.841 | D | 0.401 | 0.577 | 0.746547232912 | gnomAD-4.0.0 | 1.36849E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.7091E-05 | 0 | 1.65651E-05 |
| P/S | None | None | 0.781 | D | 0.395 | 0.42 | 0.344251166708 | gnomAD-4.0.0 | 6.84246E-07 | None | None | None | None | I | None | 0 | 0 | None | 3.8276E-05 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/T | None | None | 0.761 | D | 0.439 | 0.46 | 0.529510553188 | gnomAD-4.0.0 | 1.36849E-06 | None | None | None | None | I | None | 5.97872E-05 | 0 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.0941 | likely_benign | 0.1032 | benign | -0.796 | Destabilizing | 0.012 | N | 0.146 | neutral | N | 0.506978541 | None | None | I |
| P/C | 0.7613 | likely_pathogenic | 0.7786 | pathogenic | -0.774 | Destabilizing | 0.996 | D | 0.577 | neutral | None | None | None | None | I |
| P/D | 0.7971 | likely_pathogenic | 0.8277 | pathogenic | -0.531 | Destabilizing | 0.826 | D | 0.526 | neutral | None | None | None | None | I |
| P/E | 0.5115 | ambiguous | 0.5609 | ambiguous | -0.557 | Destabilizing | 0.683 | D | 0.517 | neutral | None | None | None | None | I |
| P/F | 0.6769 | likely_pathogenic | 0.7223 | pathogenic | -0.684 | Destabilizing | 0.996 | D | 0.597 | neutral | None | None | None | None | I |
| P/G | 0.4483 | ambiguous | 0.4319 | ambiguous | -1.005 | Destabilizing | 0.774 | D | 0.404 | neutral | None | None | None | None | I |
| P/H | 0.3952 | ambiguous | 0.4483 | ambiguous | -0.294 | Destabilizing | 0.999 | D | 0.53 | neutral | D | 0.59924154 | None | None | I |
| P/I | 0.5154 | ambiguous | 0.5936 | pathogenic | -0.346 | Destabilizing | 0.944 | D | 0.525 | neutral | None | None | None | None | I |
| P/K | 0.5382 | ambiguous | 0.5767 | pathogenic | -0.632 | Destabilizing | 0.971 | D | 0.519 | neutral | None | None | None | None | I |
| P/L | 0.2095 | likely_benign | 0.2583 | benign | -0.346 | Destabilizing | 0.841 | D | 0.401 | neutral | D | 0.611081937 | None | None | I |
| P/M | 0.4819 | ambiguous | 0.5377 | ambiguous | -0.62 | Destabilizing | 0.533 | D | 0.324 | neutral | None | None | None | None | I |
| P/N | 0.6629 | likely_pathogenic | 0.6968 | pathogenic | -0.553 | Destabilizing | 0.989 | D | 0.546 | neutral | None | None | None | None | I |
| P/Q | 0.3082 | likely_benign | 0.3523 | ambiguous | -0.683 | Destabilizing | 0.989 | D | 0.529 | neutral | None | None | None | None | I |
| P/R | 0.3865 | ambiguous | 0.4249 | ambiguous | -0.167 | Destabilizing | 0.995 | D | 0.551 | neutral | D | 0.610678329 | None | None | I |
| P/S | 0.1836 | likely_benign | 0.2027 | benign | -0.964 | Destabilizing | 0.781 | D | 0.395 | neutral | D | 0.535932122 | None | None | I |
| P/T | 0.2213 | likely_benign | 0.2543 | benign | -0.877 | Destabilizing | 0.761 | D | 0.439 | neutral | D | 0.603945554 | None | None | I |
| P/V | 0.3725 | ambiguous | 0.4358 | ambiguous | -0.463 | Destabilizing | 0.074 | N | 0.224 | neutral | None | None | None | None | I |
| P/W | 0.8575 | likely_pathogenic | 0.881 | pathogenic | -0.792 | Destabilizing | 1.0 | D | 0.605 | neutral | None | None | None | None | I |
| P/Y | 0.6486 | likely_pathogenic | 0.6863 | pathogenic | -0.497 | Destabilizing | 0.999 | D | 0.593 | neutral | None | None | None | None | I |
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.