Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20784 | 62575;62576;62577 | chr2:178589375;178589374;178589373 | chr2:179454102;179454101;179454100 |
| N2AB | 19143 | 57652;57653;57654 | chr2:178589375;178589374;178589373 | chr2:179454102;179454101;179454100 |
| N2A | 18216 | 54871;54872;54873 | chr2:178589375;178589374;178589373 | chr2:179454102;179454101;179454100 |
| N2B | 11719 | 35380;35381;35382 | chr2:178589375;178589374;178589373 | chr2:179454102;179454101;179454100 |
| Novex-1 | 11844 | 35755;35756;35757 | chr2:178589375;178589374;178589373 | chr2:179454102;179454101;179454100 |
| Novex-2 | 11911 | 35956;35957;35958 | chr2:178589375;178589374;178589373 | chr2:179454102;179454101;179454100 |
| 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/A | rs1429834760  |
-0.604 | 0.999 | D | 0.683 | 0.753 | 0.60864743834 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 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 | 0.6788 | likely_pathogenic | 0.6713 | pathogenic | -0.314 | Destabilizing | 0.999 | D | 0.683 | prob.neutral | D | 0.602931148 | None | None | I |
| G/C | 0.8219 | likely_pathogenic | 0.8254 | pathogenic | -0.84 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | I |
| G/D | 0.7569 | likely_pathogenic | 0.7827 | pathogenic | -0.69 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | I |
| G/E | 0.8418 | likely_pathogenic | 0.8503 | pathogenic | -0.865 | Destabilizing | 0.989 | D | 0.581 | neutral | D | 0.607322635 | None | None | I |
| G/F | 0.9729 | likely_pathogenic | 0.971 | pathogenic | -1.127 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | I |
| G/H | 0.9312 | likely_pathogenic | 0.9338 | pathogenic | -0.555 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | I |
| G/I | 0.9767 | likely_pathogenic | 0.9753 | pathogenic | -0.499 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | I |
| G/K | 0.9376 | likely_pathogenic | 0.9518 | pathogenic | -0.757 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | I |
| G/L | 0.9361 | likely_pathogenic | 0.936 | pathogenic | -0.499 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | I |
| G/M | 0.9461 | likely_pathogenic | 0.9449 | pathogenic | -0.394 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | I |
| G/N | 0.6557 | likely_pathogenic | 0.6633 | pathogenic | -0.406 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | I |
| G/P | 0.9965 | likely_pathogenic | 0.996 | pathogenic | -0.406 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | I |
| G/Q | 0.8683 | likely_pathogenic | 0.8796 | pathogenic | -0.741 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | I |
| G/R | 0.8892 | likely_pathogenic | 0.9095 | pathogenic | -0.285 | Destabilizing | 1.0 | D | 0.847 | deleterious | D | 0.621938289 | None | None | I |
| G/S | 0.3851 | ambiguous | 0.3779 | ambiguous | -0.53 | Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | I |
| G/T | 0.7595 | likely_pathogenic | 0.7381 | pathogenic | -0.644 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | I |
| G/V | 0.9487 | likely_pathogenic | 0.9428 | pathogenic | -0.406 | Destabilizing | 1.0 | D | 0.828 | deleterious | D | 0.65441098 | None | None | I |
| G/W | 0.9433 | likely_pathogenic | 0.9378 | pathogenic | -1.251 | Destabilizing | 1.0 | D | 0.854 | deleterious | D | 0.654612785 | None | None | I |
| G/Y | 0.951 | likely_pathogenic | 0.9531 | pathogenic | -0.905 | Destabilizing | 1.0 | D | 0.863 | 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.