Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28578 | 85957;85958;85959 | chr2:178560400;178560399;178560398 | chr2:179425127;179425126;179425125 |
| N2AB | 26937 | 81034;81035;81036 | chr2:178560400;178560399;178560398 | chr2:179425127;179425126;179425125 |
| N2A | 26010 | 78253;78254;78255 | chr2:178560400;178560399;178560398 | chr2:179425127;179425126;179425125 |
| N2B | 19513 | 58762;58763;58764 | chr2:178560400;178560399;178560398 | chr2:179425127;179425126;179425125 |
| Novex-1 | 19638 | 59137;59138;59139 | chr2:178560400;178560399;178560398 | chr2:179425127;179425126;179425125 |
| Novex-2 | 19705 | 59338;59339;59340 | chr2:178560400;178560399;178560398 | chr2:179425127;179425126;179425125 |
| 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/R | rs1381804106  |
-0.254 | 1.0 | N | 0.858 | 0.543 | 0.634785725329 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| G/R | rs1381804106 |
-0.254 | 1.0 | N | 0.858 | 0.543 | 0.634785725329 | gnomAD-4.0.0 | 1.59148E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43283E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.8475 | likely_pathogenic | 0.7814 | pathogenic | -0.202 | Destabilizing | 1.0 | D | 0.744 | deleterious | N | 0.521428815 | None | None | I |
| G/C | 0.9392 | likely_pathogenic | 0.8936 | pathogenic | -0.841 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | I |
| G/D | 0.9777 | likely_pathogenic | 0.9602 | pathogenic | -0.325 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | I |
| G/E | 0.9812 | likely_pathogenic | 0.9688 | pathogenic | -0.487 | Destabilizing | 1.0 | D | 0.87 | deleterious | D | 0.525441287 | None | None | I |
| G/F | 0.9934 | likely_pathogenic | 0.9876 | pathogenic | -1.019 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | I |
| G/H | 0.9853 | likely_pathogenic | 0.9702 | pathogenic | -0.449 | Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | I |
| G/I | 0.9911 | likely_pathogenic | 0.983 | pathogenic | -0.409 | Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | I |
| G/K | 0.9806 | likely_pathogenic | 0.97 | pathogenic | -0.488 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | I |
| G/L | 0.9899 | likely_pathogenic | 0.9808 | pathogenic | -0.409 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | I |
| G/M | 0.9931 | likely_pathogenic | 0.9869 | pathogenic | -0.395 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | I |
| G/N | 0.9744 | likely_pathogenic | 0.9505 | pathogenic | -0.233 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | I |
| G/P | 0.9985 | likely_pathogenic | 0.997 | pathogenic | -0.31 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | I |
| G/Q | 0.9794 | likely_pathogenic | 0.9623 | pathogenic | -0.508 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | I |
| G/R | 0.9363 | likely_pathogenic | 0.9073 | pathogenic | -0.131 | Destabilizing | 1.0 | D | 0.858 | deleterious | N | 0.510806525 | None | None | I |
| G/S | 0.7411 | likely_pathogenic | 0.6504 | pathogenic | -0.386 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | I |
| G/T | 0.9623 | likely_pathogenic | 0.9395 | pathogenic | -0.476 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | I |
| G/V | 0.9825 | likely_pathogenic | 0.9678 | pathogenic | -0.31 | Destabilizing | 1.0 | D | 0.849 | deleterious | D | 0.529924738 | None | None | I |
| G/W | 0.9769 | likely_pathogenic | 0.9608 | pathogenic | -1.149 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | I |
| G/Y | 0.9862 | likely_pathogenic | 0.974 | pathogenic | -0.785 | Destabilizing | 1.0 | D | 0.815 | 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.