Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18913 | 56962;56963;56964 | chr2:178598973;178598972;178598971 | chr2:179463700;179463699;179463698 |
| N2AB | 17272 | 52039;52040;52041 | chr2:178598973;178598972;178598971 | chr2:179463700;179463699;179463698 |
| N2A | 16345 | 49258;49259;49260 | chr2:178598973;178598972;178598971 | chr2:179463700;179463699;179463698 |
| N2B | 9848 | 29767;29768;29769 | chr2:178598973;178598972;178598971 | chr2:179463700;179463699;179463698 |
| Novex-1 | 9973 | 30142;30143;30144 | chr2:178598973;178598972;178598971 | chr2:179463700;179463699;179463698 |
| Novex-2 | 10040 | 30343;30344;30345 | chr2:178598973;178598972;178598971 | chr2:179463700;179463699;179463698 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/D | rs535913207  |
-0.523 | 1.0 | N | 0.699 | 0.543 | 0.506912157699 | gnomAD-2.1.1 | 4.08E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.28E-05 | None | 0 | 0 | 0 |
| G/D | rs535913207 |
-0.523 | 1.0 | N | 0.699 | 0.543 | 0.506912157699 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07383E-04 | 0 |
| G/D | rs535913207 |
-0.523 | 1.0 | N | 0.699 | 0.543 | 0.506912157699 | 1000 genomes | 1.99681E-04 | None | None | None | None | I | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| G/D | rs535913207 |
-0.523 | 1.0 | N | 0.699 | 0.543 | 0.506912157699 | gnomAD-4.0.0 | 9.13507E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 4.22972E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.9163 | likely_pathogenic | 0.8879 | pathogenic | -0.259 | Destabilizing | 1.0 | D | 0.611 | neutral | N | 0.49079121 | None | None | I |
| G/C | 0.9508 | likely_pathogenic | 0.9233 | pathogenic | -0.897 | Destabilizing | 1.0 | D | 0.789 | deleterious | D | 0.535597775 | None | None | I |
| G/D | 0.9473 | likely_pathogenic | 0.9335 | pathogenic | -0.494 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | N | 0.511871206 | None | None | I |
| G/E | 0.9733 | likely_pathogenic | 0.9639 | pathogenic | -0.66 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | I |
| G/F | 0.9894 | likely_pathogenic | 0.9867 | pathogenic | -1.012 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | I |
| G/H | 0.9832 | likely_pathogenic | 0.9748 | pathogenic | -0.373 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | I |
| G/I | 0.9858 | likely_pathogenic | 0.9822 | pathogenic | -0.474 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | I |
| G/K | 0.9784 | likely_pathogenic | 0.9664 | pathogenic | -0.665 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | I |
| G/L | 0.9815 | likely_pathogenic | 0.978 | pathogenic | -0.474 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | I |
| G/M | 0.9877 | likely_pathogenic | 0.9837 | pathogenic | -0.528 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | I |
| G/N | 0.9491 | likely_pathogenic | 0.9289 | pathogenic | -0.354 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | None | None | None | None | I |
| G/P | 0.9976 | likely_pathogenic | 0.9977 | pathogenic | -0.373 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | I |
| G/Q | 0.9713 | likely_pathogenic | 0.9559 | pathogenic | -0.642 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | I |
| G/R | 0.9628 | likely_pathogenic | 0.9398 | pathogenic | -0.211 | Destabilizing | 1.0 | D | 0.803 | deleterious | N | 0.501680217 | None | None | I |
| G/S | 0.8298 | likely_pathogenic | 0.7605 | pathogenic | -0.506 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | N | 0.500666258 | None | None | I |
| G/T | 0.9657 | likely_pathogenic | 0.9514 | pathogenic | -0.603 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | I |
| G/V | 0.9797 | likely_pathogenic | 0.9744 | pathogenic | -0.373 | Destabilizing | 1.0 | D | 0.796 | deleterious | D | 0.542345725 | None | None | I |
| G/W | 0.9877 | likely_pathogenic | 0.9813 | pathogenic | -1.123 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | I |
| G/Y | 0.9831 | likely_pathogenic | 0.9741 | pathogenic | -0.793 | Destabilizing | 1.0 | D | 0.775 | 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.