Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33245 | 99958;99959;99960 | chr2:178537474;178537473;178537472 | chr2:179402201;179402200;179402199 |
| N2AB | 31604 | 95035;95036;95037 | chr2:178537474;178537473;178537472 | chr2:179402201;179402200;179402199 |
| N2A | 30677 | 92254;92255;92256 | chr2:178537474;178537473;178537472 | chr2:179402201;179402200;179402199 |
| N2B | 24180 | 72763;72764;72765 | chr2:178537474;178537473;178537472 | chr2:179402201;179402200;179402199 |
| Novex-1 | 24305 | 73138;73139;73140 | chr2:178537474;178537473;178537472 | chr2:179402201;179402200;179402199 |
| Novex-2 | 24372 | 73339;73340;73341 | chr2:178537474;178537473;178537472 | chr2:179402201;179402200;179402199 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/T | rs749517808  |
-2.241 | 0.95 | D | 0.595 | 0.576 | 0.778575296737 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 6.54E-05 | None | 0 | 0 | 0 |
| I/T | rs749517808 |
-2.241 | 0.95 | D | 0.595 | 0.576 | 0.778575296737 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| I/T | rs749517808 |
-2.241 | 0.95 | D | 0.595 | 0.576 | 0.778575296737 | gnomAD-4.0.0 | 1.05362E-05 | None | None | None | None | N | None | 1.33501E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.10197E-05 | 2.19626E-05 | 1.60143E-05 |
| I/V | rs770654036 |
-1.424 | 0.003 | N | 0.263 | 0.105 | 0.42324137094 | gnomAD-2.1.1 | 7.15E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 1.40687E-04 |
| I/V | rs770654036 |
-1.424 | 0.003 | N | 0.263 | 0.105 | 0.42324137094 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.06954E-04 | 0 |
| I/V | rs770654036 |
-1.424 | 0.003 | N | 0.263 | 0.105 | 0.42324137094 | gnomAD-4.0.0 | 3.71854E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.58848E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.4794 | ambiguous | 0.5108 | ambiguous | -2.293 | Highly Destabilizing | 0.977 | D | 0.475 | neutral | None | None | None | None | N |
| I/C | 0.889 | likely_pathogenic | 0.8936 | pathogenic | -1.433 | Destabilizing | 1.0 | D | 0.637 | neutral | None | None | None | None | N |
| I/D | 0.9633 | likely_pathogenic | 0.9694 | pathogenic | -1.96 | Destabilizing | 0.999 | D | 0.758 | deleterious | None | None | None | None | N |
| I/E | 0.8441 | likely_pathogenic | 0.8561 | pathogenic | -1.862 | Destabilizing | 0.998 | D | 0.751 | deleterious | None | None | None | None | N |
| I/F | 0.3011 | likely_benign | 0.3521 | ambiguous | -1.55 | Destabilizing | 0.989 | D | 0.617 | neutral | N | 0.519015598 | None | None | N |
| I/G | 0.9072 | likely_pathogenic | 0.9269 | pathogenic | -2.737 | Highly Destabilizing | 0.998 | D | 0.744 | deleterious | None | None | None | None | N |
| I/H | 0.8567 | likely_pathogenic | 0.8695 | pathogenic | -2.025 | Highly Destabilizing | 1.0 | D | 0.738 | prob.delet. | None | None | None | None | N |
| I/K | 0.6802 | likely_pathogenic | 0.7156 | pathogenic | -1.626 | Destabilizing | 0.947 | D | 0.752 | deleterious | None | None | None | None | N |
| I/L | 0.2015 | likely_benign | 0.2242 | benign | -1.074 | Destabilizing | 0.145 | N | 0.437 | neutral | D | 0.52526678 | None | None | N |
| I/M | 0.1313 | likely_benign | 0.1321 | benign | -0.796 | Destabilizing | 0.964 | D | 0.603 | neutral | D | 0.530982031 | None | None | N |
| I/N | 0.7526 | likely_pathogenic | 0.7755 | pathogenic | -1.582 | Destabilizing | 0.999 | D | 0.771 | deleterious | N | 0.509702976 | None | None | N |
| I/P | 0.9573 | likely_pathogenic | 0.9638 | pathogenic | -1.454 | Destabilizing | 0.999 | D | 0.765 | deleterious | None | None | None | None | N |
| I/Q | 0.7328 | likely_pathogenic | 0.738 | pathogenic | -1.645 | Destabilizing | 0.999 | D | 0.771 | deleterious | None | None | None | None | N |
| I/R | 0.5733 | likely_pathogenic | 0.608 | pathogenic | -1.122 | Destabilizing | 0.996 | D | 0.771 | deleterious | None | None | None | None | N |
| I/S | 0.614 | likely_pathogenic | 0.6317 | pathogenic | -2.291 | Highly Destabilizing | 0.996 | D | 0.664 | neutral | N | 0.497586202 | None | None | N |
| I/T | 0.2356 | likely_benign | 0.2576 | benign | -2.06 | Highly Destabilizing | 0.95 | D | 0.595 | neutral | D | 0.538217435 | None | None | N |
| I/V | 0.0711 | likely_benign | 0.0801 | benign | -1.454 | Destabilizing | 0.003 | N | 0.263 | neutral | N | 0.469890713 | None | None | N |
| I/W | 0.893 | likely_pathogenic | 0.8996 | pathogenic | -1.759 | Destabilizing | 1.0 | D | 0.704 | prob.neutral | None | None | None | None | N |
| I/Y | 0.7907 | likely_pathogenic | 0.8037 | pathogenic | -1.522 | Destabilizing | 0.966 | D | 0.667 | neutral | 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.