Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26316 | 79171;79172;79173 | chr2:178567186;178567185;178567184 | chr2:179431913;179431912;179431911 |
| N2AB | 24675 | 74248;74249;74250 | chr2:178567186;178567185;178567184 | chr2:179431913;179431912;179431911 |
| N2A | 23748 | 71467;71468;71469 | chr2:178567186;178567185;178567184 | chr2:179431913;179431912;179431911 |
| N2B | 17251 | 51976;51977;51978 | chr2:178567186;178567185;178567184 | chr2:179431913;179431912;179431911 |
| Novex-1 | 17376 | 52351;52352;52353 | chr2:178567186;178567185;178567184 | chr2:179431913;179431912;179431911 |
| Novex-2 | 17443 | 52552;52553;52554 | chr2:178567186;178567185;178567184 | chr2:179431913;179431912;179431911 |
| 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/D | None | None | 1.0 | N | 0.684 | 0.636 | 0.371718192555 | gnomAD-4.0.0 | 2.40066E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.62502E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.8322 | likely_pathogenic | 0.8139 | pathogenic | -0.14 | Destabilizing | 1.0 | D | 0.617 | neutral | N | 0.513065159 | None | None | I |
| G/C | 0.8305 | likely_pathogenic | 0.758 | pathogenic | -0.806 | Destabilizing | 1.0 | D | 0.782 | deleterious | D | 0.524563276 | None | None | I |
| G/D | 0.9804 | likely_pathogenic | 0.9736 | pathogenic | -0.111 | Destabilizing | 1.0 | D | 0.684 | prob.neutral | N | 0.519928467 | None | None | I |
| G/E | 0.9848 | likely_pathogenic | 0.9809 | pathogenic | -0.263 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | I |
| G/F | 0.9815 | likely_pathogenic | 0.9769 | pathogenic | -0.878 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | I |
| G/H | 0.9858 | likely_pathogenic | 0.9787 | pathogenic | -0.308 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | I |
| G/I | 0.9797 | likely_pathogenic | 0.979 | pathogenic | -0.333 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | I |
| G/K | 0.9922 | likely_pathogenic | 0.9894 | pathogenic | -0.438 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | I |
| G/L | 0.9766 | likely_pathogenic | 0.9703 | pathogenic | -0.333 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | I |
| G/M | 0.9822 | likely_pathogenic | 0.9777 | pathogenic | -0.468 | Destabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | I |
| G/N | 0.9484 | likely_pathogenic | 0.9266 | pathogenic | -0.133 | Destabilizing | 1.0 | D | 0.678 | prob.neutral | None | None | None | None | I |
| G/P | 0.9989 | likely_pathogenic | 0.9988 | pathogenic | -0.24 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | I |
| G/Q | 0.9765 | likely_pathogenic | 0.9688 | pathogenic | -0.356 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | I |
| G/R | 0.9741 | likely_pathogenic | 0.9661 | pathogenic | -0.109 | Destabilizing | 1.0 | D | 0.789 | deleterious | N | 0.513598591 | None | None | I |
| G/S | 0.7112 | likely_pathogenic | 0.6691 | pathogenic | -0.33 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | N | 0.506037266 | None | None | I |
| G/T | 0.9541 | likely_pathogenic | 0.9498 | pathogenic | -0.402 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | I |
| G/V | 0.9654 | likely_pathogenic | 0.9641 | pathogenic | -0.24 | Destabilizing | 1.0 | D | 0.786 | deleterious | D | 0.546426513 | None | None | I |
| G/W | 0.9797 | likely_pathogenic | 0.9729 | pathogenic | -1.011 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | I |
| G/Y | 0.978 | likely_pathogenic | 0.9686 | pathogenic | -0.662 | Destabilizing | 1.0 | D | 0.763 | deleterious | 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.