Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 970 | 3133;3134;3135 | chr2:178782998;178782997;178782996 | chr2:179647725;179647724;179647723 |
| N2AB | 970 | 3133;3134;3135 | chr2:178782998;178782997;178782996 | chr2:179647725;179647724;179647723 |
| N2A | 970 | 3133;3134;3135 | chr2:178782998;178782997;178782996 | chr2:179647725;179647724;179647723 |
| N2B | 924 | 2995;2996;2997 | chr2:178782998;178782997;178782996 | chr2:179647725;179647724;179647723 |
| Novex-1 | 924 | 2995;2996;2997 | chr2:178782998;178782997;178782996 | chr2:179647725;179647724;179647723 |
| Novex-2 | 924 | 2995;2996;2997 | chr2:178782998;178782997;178782996 | chr2:179647725;179647724;179647723 |
| Novex-3 | 970 | 3133;3134;3135 | chr2:178782998;178782997;178782996 | chr2:179647725;179647724;179647723 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | rs771852108  |
-0.59 | 1.0 | D | 0.769 | 0.537 | 0.620928753958 | gnomAD-2.1.1 | 1.99E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.7245E-04 | None | 0 | None | 0 | 0 | 0 |
| P/A | rs771852108 |
-0.59 | 1.0 | D | 0.769 | 0.537 | 0.620928753958 | gnomAD-4.0.0 | 1.27245E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.21902E-04 | None | 0 | 0 | 0 | 0 | 0 |
| P/L | rs745978235 |
-0.257 | 1.0 | D | 0.803 | 0.59 | 0.893290774992 | gnomAD-2.1.1 | 3.99E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.83E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.9297 | likely_pathogenic | 0.9489 | pathogenic | -0.753 | Destabilizing | 1.0 | D | 0.769 | deleterious | D | 0.7667144 | None | None | I |
| P/C | 0.9963 | likely_pathogenic | 0.9972 | pathogenic | -0.619 | Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | I |
| P/D | 0.9898 | likely_pathogenic | 0.9928 | pathogenic | -0.396 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | I |
| P/E | 0.9783 | likely_pathogenic | 0.9848 | pathogenic | -0.492 | Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | I |
| P/F | 0.998 | likely_pathogenic | 0.9987 | pathogenic | -0.886 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | I |
| P/G | 0.9761 | likely_pathogenic | 0.9834 | pathogenic | -0.922 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | I |
| P/H | 0.9802 | likely_pathogenic | 0.9864 | pathogenic | -0.491 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | I |
| P/I | 0.986 | likely_pathogenic | 0.9896 | pathogenic | -0.446 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | I |
| P/K | 0.9801 | likely_pathogenic | 0.9855 | pathogenic | -0.606 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | I |
| P/L | 0.9458 | likely_pathogenic | 0.9612 | pathogenic | -0.446 | Destabilizing | 1.0 | D | 0.803 | deleterious | D | 0.782872954 | None | None | I |
| P/M | 0.9925 | likely_pathogenic | 0.9948 | pathogenic | -0.43 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | I |
| P/N | 0.9867 | likely_pathogenic | 0.9909 | pathogenic | -0.286 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | I |
| P/Q | 0.9698 | likely_pathogenic | 0.9786 | pathogenic | -0.518 | Destabilizing | 1.0 | D | 0.819 | deleterious | D | 0.729595009 | None | None | I |
| P/R | 0.9443 | likely_pathogenic | 0.9584 | pathogenic | -0.083 | Destabilizing | 1.0 | D | 0.829 | deleterious | D | 0.802252652 | None | None | I |
| P/S | 0.968 | likely_pathogenic | 0.9796 | pathogenic | -0.679 | Destabilizing | 1.0 | D | 0.804 | deleterious | D | 0.75355992 | None | None | I |
| P/T | 0.9459 | likely_pathogenic | 0.9623 | pathogenic | -0.671 | Destabilizing | 1.0 | D | 0.797 | deleterious | D | 0.802252652 | None | None | I |
| P/V | 0.9683 | likely_pathogenic | 0.9761 | pathogenic | -0.513 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | I |
| P/W | 0.9986 | likely_pathogenic | 0.9991 | pathogenic | -0.97 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | I |
| P/Y | 0.9963 | likely_pathogenic | 0.9976 | pathogenic | -0.684 | Destabilizing | 1.0 | D | 0.843 | 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.