Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34440 | 103543;103544;103545 | chr2:178533297;178533296;178533295 | chr2:179398024;179398023;179398022 |
| N2AB | 32799 | 98620;98621;98622 | chr2:178533297;178533296;178533295 | chr2:179398024;179398023;179398022 |
| N2A | 31872 | 95839;95840;95841 | chr2:178533297;178533296;178533295 | chr2:179398024;179398023;179398022 |
| N2B | 25375 | 76348;76349;76350 | chr2:178533297;178533296;178533295 | chr2:179398024;179398023;179398022 |
| Novex-1 | 25500 | 76723;76724;76725 | chr2:178533297;178533296;178533295 | chr2:179398024;179398023;179398022 |
| Novex-2 | 25567 | 76924;76925;76926 | chr2:178533297;178533296;178533295 | chr2:179398024;179398023;179398022 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/D | rs564640252  |
-1.854 | 0.999 | D | 0.632 | 0.799 | 0.60849730516 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.06868E-04 | 0 |
| N/D | rs564640252 |
-1.854 | 0.999 | D | 0.632 | 0.799 | 0.60849730516 | 1000 genomes | 1.99681E-04 | None | None | None | None | I | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| N/D | rs564640252 |
-1.854 | 0.999 | D | 0.632 | 0.799 | 0.60849730516 | gnomAD-4.0.0 | 6.56435E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.07039E-04 | 0 |
| N/T | None | None | 0.999 | D | 0.717 | 0.884 | 0.723355570506 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.9968 | likely_pathogenic | 0.9969 | pathogenic | -0.217 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | I |
| N/C | 0.9833 | likely_pathogenic | 0.9807 | pathogenic | 0.035 | Stabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | I |
| N/D | 0.9911 | likely_pathogenic | 0.9903 | pathogenic | -1.765 | Destabilizing | 0.999 | D | 0.632 | neutral | D | 0.647237108 | None | None | I |
| N/E | 0.9994 | likely_pathogenic | 0.9994 | pathogenic | -1.706 | Destabilizing | 0.999 | D | 0.725 | prob.delet. | None | None | None | None | I |
| N/F | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -0.511 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | I |
| N/G | 0.992 | likely_pathogenic | 0.9912 | pathogenic | -0.469 | Destabilizing | 0.999 | D | 0.571 | neutral | None | None | None | None | I |
| N/H | 0.9916 | likely_pathogenic | 0.9905 | pathogenic | -0.524 | Destabilizing | 1.0 | D | 0.741 | deleterious | D | 0.648246129 | None | None | I |
| N/I | 0.9975 | likely_pathogenic | 0.9977 | pathogenic | 0.383 | Stabilizing | 1.0 | D | 0.727 | prob.delet. | D | 0.632428572 | None | None | I |
| N/K | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -0.004 | Destabilizing | 1.0 | D | 0.741 | deleterious | D | 0.64784252 | None | None | I |
| N/L | 0.9924 | likely_pathogenic | 0.992 | pathogenic | 0.383 | Stabilizing | 1.0 | D | 0.736 | prob.delet. | None | None | None | None | I |
| N/M | 0.9974 | likely_pathogenic | 0.9975 | pathogenic | 0.918 | Stabilizing | 1.0 | D | 0.74 | deleterious | None | None | None | None | I |
| N/P | 0.9988 | likely_pathogenic | 0.9988 | pathogenic | 0.211 | Stabilizing | 1.0 | D | 0.732 | prob.delet. | None | None | None | None | I |
| N/Q | 0.9993 | likely_pathogenic | 0.9992 | pathogenic | -1.021 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | I |
| N/R | 0.9992 | likely_pathogenic | 0.999 | pathogenic | 0.152 | Stabilizing | 1.0 | D | 0.748 | deleterious | None | None | None | None | I |
| N/S | 0.8456 | likely_pathogenic | 0.8347 | pathogenic | -0.566 | Destabilizing | 0.999 | D | 0.595 | neutral | D | 0.56407216 | None | None | I |
| N/T | 0.9777 | likely_pathogenic | 0.9767 | pathogenic | -0.371 | Destabilizing | 0.999 | D | 0.717 | prob.delet. | D | 0.614562613 | None | None | I |
| N/V | 0.9952 | likely_pathogenic | 0.9953 | pathogenic | 0.211 | Stabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | I |
| N/W | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -0.5 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | I |
| N/Y | 0.9981 | likely_pathogenic | 0.9975 | pathogenic | -0.08 | Destabilizing | 1.0 | D | 0.745 | deleterious | D | 0.648447933 | 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.