Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34151 | 102676;102677;102678 | chr2:178534164;178534163;178534162 | chr2:179398891;179398890;179398889 |
| N2AB | 32510 | 97753;97754;97755 | chr2:178534164;178534163;178534162 | chr2:179398891;179398890;179398889 |
| N2A | 31583 | 94972;94973;94974 | chr2:178534164;178534163;178534162 | chr2:179398891;179398890;179398889 |
| N2B | 25086 | 75481;75482;75483 | chr2:178534164;178534163;178534162 | chr2:179398891;179398890;179398889 |
| Novex-1 | 25211 | 75856;75857;75858 | chr2:178534164;178534163;178534162 | chr2:179398891;179398890;179398889 |
| Novex-2 | 25278 | 76057;76058;76059 | chr2:178534164;178534163;178534162 | chr2:179398891;179398890;179398889 |
| 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/E | None | None | 0.995 | N | 0.655 | 0.238 | 0.292062946507 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| G/R | rs191522469  |
-0.638 | 0.999 | N | 0.712 | 0.368 | 0.395441342475 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.66E-05 | 0 |
| G/R | rs191522469 |
-0.638 | 0.999 | N | 0.712 | 0.368 | 0.395441342475 | gnomAD-3.1.2 | 5.26E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.0289E-04 | 0 | 0 |
| G/R | rs191522469 |
-0.638 | 0.999 | N | 0.712 | 0.368 | 0.395441342475 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 1E-03 | None | None | None | 0 | None |
| G/R | rs191522469 |
-0.638 | 0.999 | N | 0.712 | 0.368 | 0.395441342475 | gnomAD-4.0.0 | 5.32871E-05 | None | None | None | None | N | None | 1.33316E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 7.20428E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.1766 | likely_benign | 0.2224 | benign | -0.713 | Destabilizing | 0.996 | D | 0.591 | neutral | N | 0.481336205 | None | None | N |
| G/C | 0.2655 | likely_benign | 0.3928 | ambiguous | -0.869 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | None | None | None | None | N |
| G/D | 0.1824 | likely_benign | 0.2575 | benign | -1.268 | Destabilizing | 0.538 | D | 0.364 | neutral | None | None | None | None | N |
| G/E | 0.1932 | likely_benign | 0.2783 | benign | -1.396 | Destabilizing | 0.995 | D | 0.655 | neutral | N | 0.417012581 | None | None | N |
| G/F | 0.6078 | likely_pathogenic | 0.7027 | pathogenic | -1.258 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | N |
| G/H | 0.3916 | ambiguous | 0.5026 | ambiguous | -1.151 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | N |
| G/I | 0.3571 | ambiguous | 0.4862 | ambiguous | -0.585 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | None | None | None | None | N |
| G/K | 0.3454 | ambiguous | 0.4636 | ambiguous | -1.28 | Destabilizing | 0.998 | D | 0.696 | prob.neutral | None | None | None | None | N |
| G/L | 0.48 | ambiguous | 0.6005 | pathogenic | -0.585 | Destabilizing | 0.999 | D | 0.695 | prob.neutral | None | None | None | None | N |
| G/M | 0.4946 | ambiguous | 0.6083 | pathogenic | -0.362 | Destabilizing | 1.0 | D | 0.698 | prob.neutral | None | None | None | None | N |
| G/N | 0.2628 | likely_benign | 0.3533 | ambiguous | -0.841 | Destabilizing | 0.833 | D | 0.414 | neutral | None | None | None | None | N |
| G/P | 0.9271 | likely_pathogenic | 0.961 | pathogenic | -0.591 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | N |
| G/Q | 0.2622 | likely_benign | 0.3467 | ambiguous | -1.149 | Destabilizing | 0.999 | D | 0.715 | prob.delet. | None | None | None | None | N |
| G/R | 0.2578 | likely_benign | 0.3586 | ambiguous | -0.787 | Destabilizing | 0.999 | D | 0.712 | prob.delet. | N | 0.485376588 | None | None | N |
| G/S | 0.0949 | likely_benign | 0.1133 | benign | -1.004 | Destabilizing | 0.994 | D | 0.636 | neutral | None | None | None | None | N |
| G/T | 0.2019 | likely_benign | 0.2712 | benign | -1.073 | Destabilizing | 0.998 | D | 0.685 | prob.neutral | None | None | None | None | N |
| G/V | 0.2763 | likely_benign | 0.3908 | ambiguous | -0.591 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | N | 0.452591469 | None | None | N |
| G/W | 0.4712 | ambiguous | 0.5625 | ambiguous | -1.484 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | None | N |
| G/Y | 0.4377 | ambiguous | 0.5588 | ambiguous | -1.144 | Destabilizing | 1.0 | D | 0.702 | prob.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.