Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33636 | 101131;101132;101133 | chr2:178535709;178535708;178535707 | chr2:179400436;179400435;179400434 |
| N2AB | 31995 | 96208;96209;96210 | chr2:178535709;178535708;178535707 | chr2:179400436;179400435;179400434 |
| N2A | 31068 | 93427;93428;93429 | chr2:178535709;178535708;178535707 | chr2:179400436;179400435;179400434 |
| N2B | 24571 | 73936;73937;73938 | chr2:178535709;178535708;178535707 | chr2:179400436;179400435;179400434 |
| Novex-1 | 24696 | 74311;74312;74313 | chr2:178535709;178535708;178535707 | chr2:179400436;179400435;179400434 |
| Novex-2 | 24763 | 74512;74513;74514 | chr2:178535709;178535708;178535707 | chr2:179400436;179400435;179400434 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/L | None | None | 0.002 | N | 0.143 | 0.158 | 0.221734844693 | gnomAD-4.0.0 | 3.42269E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59989E-06 | 1.15966E-05 | 0 |
| I/T | rs1691134581  |
None | 0.99 | N | 0.556 | 0.637 | 0.775756185 | gnomAD-4.0.0 | 2.73686E-06 | None | None | None | None | I | None | 5.97764E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 8.9948E-07 | 1.15931E-05 | 0 |
| I/V | None | None | 0.357 | N | 0.379 | 0.173 | 0.407357902709 | gnomAD-4.0.0 | 1.36894E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79974E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.915 | likely_pathogenic | 0.8564 | pathogenic | -2.338 | Highly Destabilizing | 0.994 | D | 0.537 | neutral | None | None | None | None | I |
| I/C | 0.9865 | likely_pathogenic | 0.9785 | pathogenic | -1.657 | Destabilizing | 1.0 | D | 0.594 | neutral | None | None | None | None | I |
| I/D | 0.9983 | likely_pathogenic | 0.996 | pathogenic | -2.12 | Highly Destabilizing | 1.0 | D | 0.68 | prob.neutral | None | None | None | None | I |
| I/E | 0.9908 | likely_pathogenic | 0.9809 | pathogenic | -1.886 | Destabilizing | 1.0 | D | 0.665 | neutral | None | None | None | None | I |
| I/F | 0.7941 | likely_pathogenic | 0.6716 | pathogenic | -1.339 | Destabilizing | 0.996 | D | 0.554 | neutral | D | 0.530195384 | None | None | I |
| I/G | 0.9935 | likely_pathogenic | 0.9877 | pathogenic | -2.89 | Highly Destabilizing | 1.0 | D | 0.648 | neutral | None | None | None | None | I |
| I/H | 0.9944 | likely_pathogenic | 0.9876 | pathogenic | -2.19 | Highly Destabilizing | 1.0 | D | 0.656 | neutral | None | None | None | None | I |
| I/K | 0.9876 | likely_pathogenic | 0.971 | pathogenic | -1.72 | Destabilizing | 0.993 | D | 0.647 | neutral | None | None | None | None | I |
| I/L | 0.2719 | likely_benign | 0.1767 | benign | -0.749 | Destabilizing | 0.002 | N | 0.143 | neutral | N | 0.441663962 | None | None | I |
| I/M | 0.4045 | ambiguous | 0.2779 | benign | -0.744 | Destabilizing | 0.985 | D | 0.607 | neutral | N | 0.519247672 | None | None | I |
| I/N | 0.9872 | likely_pathogenic | 0.9722 | pathogenic | -2.029 | Highly Destabilizing | 1.0 | D | 0.695 | prob.neutral | N | 0.509071093 | None | None | I |
| I/P | 0.9895 | likely_pathogenic | 0.9771 | pathogenic | -1.258 | Destabilizing | 1.0 | D | 0.692 | prob.neutral | None | None | None | None | I |
| I/Q | 0.9862 | likely_pathogenic | 0.9691 | pathogenic | -1.852 | Destabilizing | 0.999 | D | 0.679 | prob.neutral | None | None | None | None | I |
| I/R | 0.9774 | likely_pathogenic | 0.9508 | pathogenic | -1.537 | Destabilizing | 0.999 | D | 0.685 | prob.neutral | None | None | None | None | I |
| I/S | 0.9713 | likely_pathogenic | 0.9468 | pathogenic | -2.809 | Highly Destabilizing | 1.0 | D | 0.59 | neutral | N | 0.520085003 | None | None | I |
| I/T | 0.8609 | likely_pathogenic | 0.7725 | pathogenic | -2.407 | Highly Destabilizing | 0.99 | D | 0.556 | neutral | N | 0.517296618 | None | None | I |
| I/V | 0.2217 | likely_benign | 0.1989 | benign | -1.258 | Destabilizing | 0.357 | N | 0.379 | neutral | N | 0.500120406 | None | None | I |
| I/W | 0.9915 | likely_pathogenic | 0.9845 | pathogenic | -1.604 | Destabilizing | 1.0 | D | 0.672 | neutral | None | None | None | None | I |
| I/Y | 0.9858 | likely_pathogenic | 0.9721 | pathogenic | -1.319 | Destabilizing | 0.995 | D | 0.633 | 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.