Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21843 | 65752;65753;65754 | chr2:178583655;178583654;178583653 | chr2:179448382;179448381;179448380 |
| N2AB | 20202 | 60829;60830;60831 | chr2:178583655;178583654;178583653 | chr2:179448382;179448381;179448380 |
| N2A | 19275 | 58048;58049;58050 | chr2:178583655;178583654;178583653 | chr2:179448382;179448381;179448380 |
| N2B | 12778 | 38557;38558;38559 | chr2:178583655;178583654;178583653 | chr2:179448382;179448381;179448380 |
| Novex-1 | 12903 | 38932;38933;38934 | chr2:178583655;178583654;178583653 | chr2:179448382;179448381;179448380 |
| Novex-2 | 12970 | 39133;39134;39135 | chr2:178583655;178583654;178583653 | chr2:179448382;179448381;179448380 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/G | None | None | 0.999 | N | 0.737 | 0.286 | 0.227260227426 | gnomAD-4.0.0 | 6.00162E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.56252E-06 | 0 | 0 |
| S/N | rs2154179160  |
None | 0.999 | D | 0.725 | 0.398 | 0.391470661076 | gnomAD-4.0.0 | 1.59594E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.03361E-05 |
| S/R | None | None | 1.0 | N | 0.865 | 0.519 | 0.458917189328 | gnomAD-4.0.0 | 6.8508E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00155E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.6942 | likely_pathogenic | 0.6949 | pathogenic | -0.522 | Destabilizing | 0.998 | D | 0.708 | prob.delet. | None | None | None | None | N |
| S/C | 0.8227 | likely_pathogenic | 0.8048 | pathogenic | -0.44 | Destabilizing | 1.0 | D | 0.863 | deleterious | D | 0.538753511 | None | None | N |
| S/D | 0.9958 | likely_pathogenic | 0.9939 | pathogenic | -0.691 | Destabilizing | 0.999 | D | 0.765 | deleterious | None | None | None | None | N |
| S/E | 0.998 | likely_pathogenic | 0.9976 | pathogenic | -0.59 | Destabilizing | 0.999 | D | 0.731 | prob.delet. | None | None | None | None | N |
| S/F | 0.9941 | likely_pathogenic | 0.9926 | pathogenic | -0.318 | Destabilizing | 1.0 | D | 0.925 | deleterious | None | None | None | None | N |
| S/G | 0.4931 | ambiguous | 0.4322 | ambiguous | -0.873 | Destabilizing | 0.999 | D | 0.737 | prob.delet. | N | 0.476970535 | None | None | N |
| S/H | 0.9916 | likely_pathogenic | 0.9892 | pathogenic | -1.336 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| S/I | 0.986 | likely_pathogenic | 0.984 | pathogenic | 0.33 | Stabilizing | 1.0 | D | 0.918 | deleterious | D | 0.538246532 | None | None | N |
| S/K | 0.9994 | likely_pathogenic | 0.9992 | pathogenic | -0.664 | Destabilizing | 0.999 | D | 0.749 | deleterious | None | None | None | None | N |
| S/L | 0.9519 | likely_pathogenic | 0.9453 | pathogenic | 0.33 | Stabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| S/M | 0.9848 | likely_pathogenic | 0.9809 | pathogenic | 0.262 | Stabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| S/N | 0.9784 | likely_pathogenic | 0.9727 | pathogenic | -0.925 | Destabilizing | 0.999 | D | 0.725 | prob.delet. | D | 0.537993042 | None | None | N |
| S/P | 0.9926 | likely_pathogenic | 0.9904 | pathogenic | 0.082 | Stabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | N |
| S/Q | 0.9958 | likely_pathogenic | 0.9947 | pathogenic | -0.817 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| S/R | 0.9987 | likely_pathogenic | 0.9984 | pathogenic | -0.833 | Destabilizing | 1.0 | D | 0.865 | deleterious | N | 0.519039413 | None | None | N |
| S/T | 0.7946 | likely_pathogenic | 0.7396 | pathogenic | -0.73 | Destabilizing | 0.999 | D | 0.725 | prob.delet. | D | 0.537739552 | None | None | N |
| S/V | 0.9862 | likely_pathogenic | 0.9832 | pathogenic | 0.082 | Stabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| S/W | 0.996 | likely_pathogenic | 0.9949 | pathogenic | -0.504 | Destabilizing | 1.0 | D | 0.917 | deleterious | None | None | None | None | N |
| S/Y | 0.993 | likely_pathogenic | 0.9912 | pathogenic | -0.139 | Destabilizing | 1.0 | D | 0.925 | 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.