Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24589 | 73990;73991;73992 | chr2:178572367;178572366;178572365 | chr2:179437094;179437093;179437092 |
| N2AB | 22948 | 69067;69068;69069 | chr2:178572367;178572366;178572365 | chr2:179437094;179437093;179437092 |
| N2A | 22021 | 66286;66287;66288 | chr2:178572367;178572366;178572365 | chr2:179437094;179437093;179437092 |
| N2B | 15524 | 46795;46796;46797 | chr2:178572367;178572366;178572365 | chr2:179437094;179437093;179437092 |
| Novex-1 | 15649 | 47170;47171;47172 | chr2:178572367;178572366;178572365 | chr2:179437094;179437093;179437092 |
| Novex-2 | 15716 | 47371;47372;47373 | chr2:178572367;178572366;178572365 | chr2:179437094;179437093;179437092 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/C | rs368708895  |
-2.067 | 1.0 | D | 0.851 | 0.822 | None | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| Y/C | rs368708895 |
-2.067 | 1.0 | D | 0.851 | 0.822 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| Y/C | rs368708895 |
-2.067 | 1.0 | D | 0.851 | 0.822 | None | gnomAD-4.0.0 | 4.34085E-06 | None | None | None | None | N | None | 4.00555E-05 | 0 | None | 0 | 0 | None | 0 | 3.29381E-04 | 8.48197E-07 | 1.0981E-05 | 0 |
| Y/H | rs371821218 |
-2.335 | 1.0 | D | 0.836 | 0.82 | None | gnomAD-2.1.1 | 2.5E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 5.48E-05 | 0 |
| Y/H | rs371821218 |
-2.335 | 1.0 | D | 0.836 | 0.82 | None | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 5.88E-05 | 0 | 0 |
| Y/H | rs371821218 |
-2.335 | 1.0 | D | 0.836 | 0.82 | None | gnomAD-4.0.0 | 1.73618E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.20511E-05 | 0 | 3.20431E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.9953 | likely_pathogenic | 0.9919 | pathogenic | -2.965 | Highly Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| Y/C | 0.9056 | likely_pathogenic | 0.8204 | pathogenic | -1.945 | Destabilizing | 1.0 | D | 0.851 | deleterious | D | 0.671078577 | None | None | N |
| Y/D | 0.9974 | likely_pathogenic | 0.9956 | pathogenic | -3.186 | Highly Destabilizing | 1.0 | D | 0.845 | deleterious | D | 0.696616689 | None | None | N |
| Y/E | 0.9994 | likely_pathogenic | 0.9991 | pathogenic | -2.963 | Highly Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| Y/F | 0.2208 | likely_benign | 0.1655 | benign | -0.99 | Destabilizing | 0.999 | D | 0.746 | deleterious | D | 0.607970871 | None | None | N |
| Y/G | 0.9903 | likely_pathogenic | 0.9848 | pathogenic | -3.411 | Highly Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| Y/H | 0.971 | likely_pathogenic | 0.9461 | pathogenic | -2.063 | Highly Destabilizing | 1.0 | D | 0.836 | deleterious | D | 0.680365164 | None | None | N |
| Y/I | 0.9756 | likely_pathogenic | 0.9663 | pathogenic | -1.489 | Destabilizing | 0.999 | D | 0.842 | deleterious | None | None | None | None | N |
| Y/K | 0.9994 | likely_pathogenic | 0.9989 | pathogenic | -2.103 | Highly Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| Y/L | 0.9575 | likely_pathogenic | 0.9496 | pathogenic | -1.489 | Destabilizing | 0.997 | D | 0.806 | deleterious | None | None | None | None | N |
| Y/M | 0.9885 | likely_pathogenic | 0.9832 | pathogenic | -1.413 | Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | N |
| Y/N | 0.9757 | likely_pathogenic | 0.9583 | pathogenic | -2.91 | Highly Destabilizing | 1.0 | D | 0.845 | deleterious | D | 0.696414885 | None | None | N |
| Y/P | 0.9991 | likely_pathogenic | 0.9985 | pathogenic | -1.996 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| Y/Q | 0.9984 | likely_pathogenic | 0.9969 | pathogenic | -2.618 | Highly Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| Y/R | 0.9969 | likely_pathogenic | 0.9946 | pathogenic | -1.953 | Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | N |
| Y/S | 0.9743 | likely_pathogenic | 0.9582 | pathogenic | -3.329 | Highly Destabilizing | 1.0 | D | 0.86 | deleterious | D | 0.696616689 | None | None | N |
| Y/T | 0.9932 | likely_pathogenic | 0.989 | pathogenic | -2.974 | Highly Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| Y/V | 0.947 | likely_pathogenic | 0.9338 | pathogenic | -1.996 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| Y/W | 0.7761 | likely_pathogenic | 0.6902 | pathogenic | -0.253 | Destabilizing | 1.0 | D | 0.815 | 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.