Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28057 | 84394;84395;84396 | chr2:178561963;178561962;178561961 | chr2:179426690;179426689;179426688 |
| N2AB | 26416 | 79471;79472;79473 | chr2:178561963;178561962;178561961 | chr2:179426690;179426689;179426688 |
| N2A | 25489 | 76690;76691;76692 | chr2:178561963;178561962;178561961 | chr2:179426690;179426689;179426688 |
| N2B | 18992 | 57199;57200;57201 | chr2:178561963;178561962;178561961 | chr2:179426690;179426689;179426688 |
| Novex-1 | 19117 | 57574;57575;57576 | chr2:178561963;178561962;178561961 | chr2:179426690;179426689;179426688 |
| Novex-2 | 19184 | 57775;57776;57777 | chr2:178561963;178561962;178561961 | chr2:179426690;179426689;179426688 |
| 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 | rs1219669291  |
-0.707 | 1.0 | N | 0.845 | 0.429 | 0.564798353577 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| G/R | rs1219669291 |
-0.707 | 1.0 | N | 0.845 | 0.429 | 0.564798353577 | gnomAD-4.0.0 | 3.1863E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.86607E-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 | 0.2473 | likely_benign | 0.1945 | benign | -0.943 | Destabilizing | 1.0 | D | 0.665 | neutral | N | 0.521500464 | None | None | N |
| G/C | 0.4363 | ambiguous | 0.3369 | benign | -1.31 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| G/D | 0.4842 | ambiguous | 0.388 | ambiguous | -2.23 | Highly Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| G/E | 0.5278 | ambiguous | 0.4333 | ambiguous | -2.223 | Highly Destabilizing | 1.0 | D | 0.861 | deleterious | N | 0.49521794 | None | None | N |
| G/F | 0.8176 | likely_pathogenic | 0.7334 | pathogenic | -1.115 | Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| G/H | 0.7694 | likely_pathogenic | 0.6688 | pathogenic | -1.51 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| G/I | 0.7164 | likely_pathogenic | 0.5999 | pathogenic | -0.436 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| G/K | 0.8042 | likely_pathogenic | 0.7055 | pathogenic | -1.355 | Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| G/L | 0.6277 | likely_pathogenic | 0.5338 | ambiguous | -0.436 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| G/M | 0.7292 | likely_pathogenic | 0.636 | pathogenic | -0.544 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| G/N | 0.5479 | ambiguous | 0.4696 | ambiguous | -1.294 | Destabilizing | 1.0 | D | 0.758 | deleterious | None | None | None | None | N |
| G/P | 0.9783 | likely_pathogenic | 0.9658 | pathogenic | -0.566 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| G/Q | 0.665 | likely_pathogenic | 0.5709 | pathogenic | -1.45 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| G/R | 0.7112 | likely_pathogenic | 0.6249 | pathogenic | -1.1 | Destabilizing | 1.0 | D | 0.845 | deleterious | N | 0.483534784 | None | None | N |
| G/S | 0.145 | likely_benign | 0.1181 | benign | -1.5 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| G/T | 0.3722 | ambiguous | 0.2854 | benign | -1.428 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| G/V | 0.5797 | likely_pathogenic | 0.4755 | ambiguous | -0.566 | Destabilizing | 1.0 | D | 0.868 | deleterious | N | 0.491132108 | None | None | N |
| G/W | 0.7784 | likely_pathogenic | 0.6724 | pathogenic | -1.56 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| G/Y | 0.7443 | likely_pathogenic | 0.6218 | pathogenic | -1.128 | Destabilizing | 1.0 | D | 0.839 | 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.