Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33740 | 101443;101444;101445 | chr2:178535397;178535396;178535395 | chr2:179400124;179400123;179400122 |
| N2AB | 32099 | 96520;96521;96522 | chr2:178535397;178535396;178535395 | chr2:179400124;179400123;179400122 |
| N2A | 31172 | 93739;93740;93741 | chr2:178535397;178535396;178535395 | chr2:179400124;179400123;179400122 |
| N2B | 24675 | 74248;74249;74250 | chr2:178535397;178535396;178535395 | chr2:179400124;179400123;179400122 |
| Novex-1 | 24800 | 74623;74624;74625 | chr2:178535397;178535396;178535395 | chr2:179400124;179400123;179400122 |
| Novex-2 | 24867 | 74824;74825;74826 | chr2:178535397;178535396;178535395 | chr2:179400124;179400123;179400122 |
| 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 | rs536705240  |
-0.428 | 0.999 | N | 0.785 | 0.387 | 0.661553648396 | gnomAD-2.1.1 | 2.14E-05 | None | None | None | None | N | None | 2.47975E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/R | rs536705240 |
-0.428 | 0.999 | N | 0.785 | 0.387 | 0.661553648396 | gnomAD-3.1.2 | 5.91E-05 | None | None | None | None | N | None | 2.17129E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | rs536705240 |
-0.428 | 0.999 | N | 0.785 | 0.387 | 0.661553648396 | gnomAD-4.0.0 | 1.67297E-05 | None | None | None | None | N | None | 3.06487E-04 | 0 | None | 0 | 0 | None | 0 | 0 | 1.69515E-06 | 1.09794E-05 | 1.60041E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.1817 | likely_benign | 0.2114 | benign | -0.435 | Destabilizing | 0.126 | N | 0.337 | neutral | N | 0.423203126 | None | None | N |
| G/C | 0.5165 | ambiguous | 0.5327 | ambiguous | -0.79 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | N |
| G/D | 0.9189 | likely_pathogenic | 0.8995 | pathogenic | -0.687 | Destabilizing | 0.999 | D | 0.777 | deleterious | None | None | None | None | N |
| G/E | 0.9249 | likely_pathogenic | 0.9095 | pathogenic | -0.72 | Destabilizing | 0.999 | D | 0.767 | deleterious | N | 0.464164314 | None | None | N |
| G/F | 0.9499 | likely_pathogenic | 0.952 | pathogenic | -0.698 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | N |
| G/H | 0.9506 | likely_pathogenic | 0.9427 | pathogenic | -0.971 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| G/I | 0.8847 | likely_pathogenic | 0.9075 | pathogenic | -0.03 | Destabilizing | 0.998 | D | 0.768 | deleterious | None | None | None | None | N |
| G/K | 0.9772 | likely_pathogenic | 0.9726 | pathogenic | -1.045 | Destabilizing | 0.999 | D | 0.765 | deleterious | None | None | None | None | N |
| G/L | 0.8755 | likely_pathogenic | 0.8936 | pathogenic | -0.03 | Destabilizing | 0.998 | D | 0.732 | prob.delet. | None | None | None | None | N |
| G/M | 0.9173 | likely_pathogenic | 0.9291 | pathogenic | -0.206 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | N |
| G/N | 0.8807 | likely_pathogenic | 0.8683 | pathogenic | -0.815 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| G/P | 0.9949 | likely_pathogenic | 0.9954 | pathogenic | -0.122 | Destabilizing | 0.999 | D | 0.774 | deleterious | None | None | None | None | N |
| G/Q | 0.9165 | likely_pathogenic | 0.9097 | pathogenic | -0.914 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| G/R | 0.9338 | likely_pathogenic | 0.9259 | pathogenic | -0.79 | Destabilizing | 0.999 | D | 0.785 | deleterious | N | 0.489676047 | None | None | N |
| G/S | 0.2565 | likely_benign | 0.2613 | benign | -1.098 | Destabilizing | 0.968 | D | 0.625 | neutral | None | None | None | None | N |
| G/T | 0.6127 | likely_pathogenic | 0.616 | pathogenic | -1.032 | Destabilizing | 0.999 | D | 0.7 | prob.neutral | None | None | None | None | N |
| G/V | 0.7464 | likely_pathogenic | 0.7842 | pathogenic | -0.122 | Destabilizing | 0.891 | D | 0.52 | neutral | N | 0.473669232 | None | None | N |
| G/W | 0.9399 | likely_pathogenic | 0.9363 | pathogenic | -1.103 | Destabilizing | 1.0 | D | 0.738 | prob.delet. | None | None | None | None | N |
| G/Y | 0.949 | likely_pathogenic | 0.9413 | pathogenic | -0.629 | Destabilizing | 1.0 | D | 0.804 | 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.