Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14074 | 42445;42446;42447 | chr2:178634561;178634560;178634559 | chr2:179499288;179499287;179499286 |
| N2AB | 12433 | 37522;37523;37524 | chr2:178634561;178634560;178634559 | chr2:179499288;179499287;179499286 |
| N2A | 11506 | 34741;34742;34743 | chr2:178634561;178634560;178634559 | chr2:179499288;179499287;179499286 |
| N2B | 5009 | 15250;15251;15252 | chr2:178634561;178634560;178634559 | chr2:179499288;179499287;179499286 |
| Novex-1 | 5134 | 15625;15626;15627 | chr2:178634561;178634560;178634559 | chr2:179499288;179499287;179499286 |
| Novex-2 | 5201 | 15826;15827;15828 | chr2:178634561;178634560;178634559 | chr2:179499288;179499287;179499286 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/K | rs1418024772  |
-0.282 | 1.0 | N | 0.59 | 0.441 | 0.494974121195 | gnomAD-2.1.1 | 6.37E-05 | None | None | None | None | N | None | 1.14811E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| E/K | rs1418024772 |
-0.282 | 1.0 | N | 0.59 | 0.441 | 0.494974121195 | gnomAD-3.1.2 | 4.6E-05 | None | None | None | None | N | None | 1.20744E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 2.07297E-04 | 0 |
| E/K | rs1418024772 |
-0.282 | 1.0 | N | 0.59 | 0.441 | 0.494974121195 | gnomAD-4.0.0 | 2.29339E-05 | None | None | None | None | N | None | 9.33831E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.1195E-05 | 4.39338E-05 | 1.60113E-05 |
| E/Q | rs1418024772 |
None | 1.0 | D | 0.635 | 0.443 | 0.528059499947 | gnomAD-4.0.0 | 6.84384E-07 | None | None | None | None | N | None | 2.9915E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.4851 | ambiguous | 0.5553 | ambiguous | -0.685 | Destabilizing | 0.999 | D | 0.685 | prob.neutral | D | 0.59510733 | None | None | N |
| E/C | 0.9725 | likely_pathogenic | 0.9799 | pathogenic | -0.517 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| E/D | 0.6408 | likely_pathogenic | 0.6188 | pathogenic | -1.277 | Destabilizing | 0.999 | D | 0.487 | neutral | N | 0.510294046 | None | None | N |
| E/F | 0.9658 | likely_pathogenic | 0.9728 | pathogenic | 0.097 | Stabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | N |
| E/G | 0.6794 | likely_pathogenic | 0.7408 | pathogenic | -1.093 | Destabilizing | 1.0 | D | 0.745 | deleterious | D | 0.654885976 | None | None | N |
| E/H | 0.8736 | likely_pathogenic | 0.9012 | pathogenic | -0.171 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | N |
| E/I | 0.7792 | likely_pathogenic | 0.8069 | pathogenic | 0.439 | Stabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| E/K | 0.6846 | likely_pathogenic | 0.7423 | pathogenic | -0.757 | Destabilizing | 1.0 | D | 0.59 | neutral | N | 0.501624763 | None | None | N |
| E/L | 0.879 | likely_pathogenic | 0.9042 | pathogenic | 0.439 | Stabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| E/M | 0.8735 | likely_pathogenic | 0.9014 | pathogenic | 0.807 | Stabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| E/N | 0.8277 | likely_pathogenic | 0.851 | pathogenic | -1.333 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | N |
| E/P | 0.9855 | likely_pathogenic | 0.9891 | pathogenic | 0.086 | Stabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| E/Q | 0.384 | ambiguous | 0.4376 | ambiguous | -1.143 | Destabilizing | 1.0 | D | 0.635 | neutral | D | 0.569612986 | None | None | N |
| E/R | 0.7924 | likely_pathogenic | 0.8313 | pathogenic | -0.406 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| E/S | 0.515 | ambiguous | 0.5835 | pathogenic | -1.652 | Destabilizing | 0.999 | D | 0.645 | neutral | None | None | None | None | N |
| E/T | 0.5637 | ambiguous | 0.634 | pathogenic | -1.31 | Destabilizing | 1.0 | D | 0.78 | deleterious | None | None | None | None | N |
| E/V | 0.6032 | likely_pathogenic | 0.6432 | pathogenic | 0.086 | Stabilizing | 1.0 | D | 0.763 | deleterious | D | 0.584014618 | None | None | N |
| E/W | 0.9908 | likely_pathogenic | 0.9934 | pathogenic | 0.333 | Stabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| E/Y | 0.95 | likely_pathogenic | 0.9624 | pathogenic | 0.343 | Stabilizing | 1.0 | D | 0.775 | 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.