Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1334 | 4225;4226;4227 | chr2:178779082;178779081;178779080 | chr2:179643809;179643808;179643807 |
| N2AB | 1334 | 4225;4226;4227 | chr2:178779082;178779081;178779080 | chr2:179643809;179643808;179643807 |
| N2A | 1334 | 4225;4226;4227 | chr2:178779082;178779081;178779080 | chr2:179643809;179643808;179643807 |
| N2B | 1288 | 4087;4088;4089 | chr2:178779082;178779081;178779080 | chr2:179643809;179643808;179643807 |
| Novex-1 | 1288 | 4087;4088;4089 | chr2:178779082;178779081;178779080 | chr2:179643809;179643808;179643807 |
| Novex-2 | 1288 | 4087;4088;4089 | chr2:178779082;178779081;178779080 | chr2:179643809;179643808;179643807 |
| Novex-3 | 1334 | 4225;4226;4227 | chr2:178779082;178779081;178779080 | chr2:179643809;179643808;179643807 |
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 | rs977217136  |
None | 0.946 | N | 0.673 | 0.276 | 0.5073929853 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | rs977217136 |
None | 0.946 | N | 0.673 | 0.276 | 0.5073929853 | gnomAD-4.0.0 | 2.5619E-06 | None | None | None | None | N | None | 1.69102E-05 | 1.6952E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 | 0.2926 | likely_benign | 0.2926 | benign | -0.397 | Destabilizing | 0.716 | D | 0.461 | neutral | N | 0.451881569 | None | None | N |
| G/C | 0.4998 | ambiguous | 0.474 | ambiguous | -0.619 | Destabilizing | 0.998 | D | 0.715 | prob.delet. | None | None | None | None | N |
| G/D | 0.4389 | ambiguous | 0.4452 | ambiguous | -1.034 | Destabilizing | 0.921 | D | 0.62 | neutral | None | None | None | None | N |
| G/E | 0.4637 | ambiguous | 0.4661 | ambiguous | -1.171 | Destabilizing | 0.035 | N | 0.435 | neutral | N | 0.458830823 | None | None | N |
| G/F | 0.8906 | likely_pathogenic | 0.889 | pathogenic | -1.037 | Destabilizing | 0.998 | D | 0.713 | prob.delet. | None | None | None | None | N |
| G/H | 0.6589 | likely_pathogenic | 0.6395 | pathogenic | -0.911 | Destabilizing | 0.994 | D | 0.68 | prob.neutral | None | None | None | None | N |
| G/I | 0.7851 | likely_pathogenic | 0.7854 | pathogenic | -0.369 | Destabilizing | 0.979 | D | 0.725 | prob.delet. | None | None | None | None | N |
| G/K | 0.7352 | likely_pathogenic | 0.722 | pathogenic | -1.113 | Destabilizing | 0.921 | D | 0.631 | neutral | None | None | None | None | N |
| G/L | 0.7682 | likely_pathogenic | 0.7632 | pathogenic | -0.369 | Destabilizing | 0.959 | D | 0.697 | prob.neutral | None | None | None | None | N |
| G/M | 0.7862 | likely_pathogenic | 0.7727 | pathogenic | -0.321 | Destabilizing | 0.998 | D | 0.711 | prob.delet. | None | None | None | None | N |
| G/N | 0.4379 | ambiguous | 0.408 | ambiguous | -0.589 | Destabilizing | 0.959 | D | 0.664 | neutral | None | None | None | None | N |
| G/P | 0.9638 | likely_pathogenic | 0.9687 | pathogenic | -0.342 | Destabilizing | 0.979 | D | 0.673 | neutral | None | None | None | None | N |
| G/Q | 0.5416 | ambiguous | 0.5343 | ambiguous | -0.87 | Destabilizing | 0.921 | D | 0.671 | neutral | None | None | None | None | N |
| G/R | 0.6104 | likely_pathogenic | 0.6057 | pathogenic | -0.658 | Destabilizing | 0.946 | D | 0.673 | neutral | N | 0.459858686 | None | None | N |
| G/S | 0.1394 | likely_benign | 0.1337 | benign | -0.669 | Destabilizing | 0.206 | N | 0.311 | neutral | None | None | None | None | N |
| G/T | 0.3009 | likely_benign | 0.2897 | benign | -0.749 | Destabilizing | 0.921 | D | 0.63 | neutral | None | None | None | None | N |
| G/V | 0.641 | likely_pathogenic | 0.6436 | pathogenic | -0.342 | Destabilizing | 0.946 | D | 0.694 | prob.neutral | N | 0.500898577 | None | None | N |
| G/W | 0.7878 | likely_pathogenic | 0.7944 | pathogenic | -1.292 | Destabilizing | 0.998 | D | 0.68 | prob.neutral | None | None | None | None | N |
| G/Y | 0.8326 | likely_pathogenic | 0.8314 | pathogenic | -0.928 | Destabilizing | 0.998 | D | 0.715 | prob.delet. | 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.