Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2955 | 9088;9089;9090 | chr2:178769718;178769717;178769716 | chr2:179634445;179634444;179634443 |
| N2AB | 2955 | 9088;9089;9090 | chr2:178769718;178769717;178769716 | chr2:179634445;179634444;179634443 |
| N2A | 2955 | 9088;9089;9090 | chr2:178769718;178769717;178769716 | chr2:179634445;179634444;179634443 |
| N2B | 2909 | 8950;8951;8952 | chr2:178769718;178769717;178769716 | chr2:179634445;179634444;179634443 |
| Novex-1 | 2909 | 8950;8951;8952 | chr2:178769718;178769717;178769716 | chr2:179634445;179634444;179634443 |
| Novex-2 | 2909 | 8950;8951;8952 | chr2:178769718;178769717;178769716 | chr2:179634445;179634444;179634443 |
| Novex-3 | 2955 | 9088;9089;9090 | chr2:178769718;178769717;178769716 | chr2:179634445;179634444;179634443 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/Y | None | None | 1.0 | N | 0.867 | 0.538 | 0.790359125591 | gnomAD-4.0.0 | 9.6026E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.05E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.873 | likely_pathogenic | 0.836 | pathogenic | -2.003 | Highly Destabilizing | 0.998 | D | 0.623 | neutral | None | None | None | None | N |
| C/D | 0.9986 | likely_pathogenic | 0.9977 | pathogenic | -1.23 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| C/E | 0.9995 | likely_pathogenic | 0.9991 | pathogenic | -1.059 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| C/F | 0.9387 | likely_pathogenic | 0.9086 | pathogenic | -1.231 | Destabilizing | 1.0 | D | 0.847 | deleterious | N | 0.509042132 | None | None | N |
| C/G | 0.8884 | likely_pathogenic | 0.8476 | pathogenic | -2.36 | Highly Destabilizing | 1.0 | D | 0.837 | deleterious | N | 0.49971227 | None | None | N |
| C/H | 0.9944 | likely_pathogenic | 0.9915 | pathogenic | -2.444 | Highly Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| C/I | 0.9476 | likely_pathogenic | 0.9304 | pathogenic | -1.05 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| C/K | 0.9995 | likely_pathogenic | 0.9991 | pathogenic | -1.499 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| C/L | 0.9279 | likely_pathogenic | 0.9003 | pathogenic | -1.05 | Destabilizing | 0.999 | D | 0.686 | prob.neutral | None | None | None | None | N |
| C/M | 0.973 | likely_pathogenic | 0.9659 | pathogenic | 0.129 | Stabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| C/N | 0.9934 | likely_pathogenic | 0.9902 | pathogenic | -1.74 | Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | N |
| C/P | 0.9993 | likely_pathogenic | 0.9988 | pathogenic | -1.343 | Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | N |
| C/Q | 0.9977 | likely_pathogenic | 0.9964 | pathogenic | -1.484 | Destabilizing | 1.0 | D | 0.89 | deleterious | None | None | None | None | N |
| C/R | 0.9927 | likely_pathogenic | 0.9883 | pathogenic | -1.538 | Destabilizing | 1.0 | D | 0.875 | deleterious | D | 0.530965575 | None | None | N |
| C/S | 0.9109 | likely_pathogenic | 0.8793 | pathogenic | -2.207 | Highly Destabilizing | 1.0 | D | 0.782 | deleterious | N | 0.506988257 | None | None | N |
| C/T | 0.9414 | likely_pathogenic | 0.9226 | pathogenic | -1.846 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| C/V | 0.8661 | likely_pathogenic | 0.8368 | pathogenic | -1.343 | Destabilizing | 0.999 | D | 0.729 | prob.delet. | None | None | None | None | N |
| C/W | 0.9907 | likely_pathogenic | 0.9867 | pathogenic | -1.386 | Destabilizing | 1.0 | D | 0.858 | deleterious | D | 0.571733012 | None | None | N |
| C/Y | 0.9814 | likely_pathogenic | 0.9711 | pathogenic | -1.341 | Destabilizing | 1.0 | D | 0.867 | deleterious | N | 0.503896204 | 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.