Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18573 | 55942;55943;55944 | chr2:178601280;178601279;178601278 | chr2:179466007;179466006;179466005 |
| N2AB | 16932 | 51019;51020;51021 | chr2:178601280;178601279;178601278 | chr2:179466007;179466006;179466005 |
| N2A | 16005 | 48238;48239;48240 | chr2:178601280;178601279;178601278 | chr2:179466007;179466006;179466005 |
| N2B | 9508 | 28747;28748;28749 | chr2:178601280;178601279;178601278 | chr2:179466007;179466006;179466005 |
| Novex-1 | 9633 | 29122;29123;29124 | chr2:178601280;178601279;178601278 | chr2:179466007;179466006;179466005 |
| Novex-2 | 9700 | 29323;29324;29325 | chr2:178601280;178601279;178601278 | chr2:179466007;179466006;179466005 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/S | None | None | 0.999 | N | 0.64 | 0.2 | 0.300449992093 | gnomAD-4.0.0 | 1.75634E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.08457E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.7484 | likely_pathogenic | 0.7842 | pathogenic | -2.105 | Highly Destabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | N |
| A/D | 0.998 | likely_pathogenic | 0.9973 | pathogenic | -3.01 | Highly Destabilizing | 1.0 | D | 0.801 | deleterious | N | 0.504090893 | None | None | N |
| A/E | 0.9939 | likely_pathogenic | 0.9922 | pathogenic | -2.877 | Highly Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| A/F | 0.973 | likely_pathogenic | 0.9668 | pathogenic | -0.985 | Destabilizing | 1.0 | D | 0.764 | deleterious | None | None | None | None | N |
| A/G | 0.6945 | likely_pathogenic | 0.6913 | pathogenic | -1.614 | Destabilizing | 0.999 | D | 0.588 | neutral | N | 0.467882383 | None | None | N |
| A/H | 0.9958 | likely_pathogenic | 0.9951 | pathogenic | -1.584 | Destabilizing | 1.0 | D | 0.774 | deleterious | None | None | None | None | N |
| A/I | 0.8023 | likely_pathogenic | 0.7646 | pathogenic | -0.397 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| A/K | 0.9978 | likely_pathogenic | 0.9973 | pathogenic | -1.422 | Destabilizing | 1.0 | D | 0.76 | deleterious | None | None | None | None | N |
| A/L | 0.737 | likely_pathogenic | 0.7351 | pathogenic | -0.397 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| A/M | 0.8772 | likely_pathogenic | 0.848 | pathogenic | -0.954 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| A/N | 0.9891 | likely_pathogenic | 0.9868 | pathogenic | -1.806 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| A/P | 0.7828 | likely_pathogenic | 0.744 | pathogenic | -0.654 | Destabilizing | 1.0 | D | 0.792 | deleterious | N | 0.471032254 | None | None | N |
| A/Q | 0.985 | likely_pathogenic | 0.9808 | pathogenic | -1.79 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | N |
| A/R | 0.9896 | likely_pathogenic | 0.9876 | pathogenic | -1.291 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| A/S | 0.4621 | ambiguous | 0.4389 | ambiguous | -2.112 | Highly Destabilizing | 0.999 | D | 0.64 | neutral | N | 0.471490008 | None | None | N |
| A/T | 0.6586 | likely_pathogenic | 0.6535 | pathogenic | -1.879 | Destabilizing | 1.0 | D | 0.765 | deleterious | N | 0.46179277 | None | None | N |
| A/V | 0.5706 | likely_pathogenic | 0.5288 | ambiguous | -0.654 | Destabilizing | 0.999 | D | 0.685 | prob.delet. | N | 0.512070117 | None | None | N |
| A/W | 0.998 | likely_pathogenic | 0.9974 | pathogenic | -1.502 | Destabilizing | 1.0 | D | 0.727 | deleterious | None | None | None | None | N |
| A/Y | 0.9931 | likely_pathogenic | 0.9918 | pathogenic | -1.071 | Destabilizing | 1.0 | D | 0.81 | deleterious | 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.