Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21030 | 63313;63314;63315 | chr2:178588637;178588636;178588635 | chr2:179453364;179453363;179453362 |
| N2AB | 19389 | 58390;58391;58392 | chr2:178588637;178588636;178588635 | chr2:179453364;179453363;179453362 |
| N2A | 18462 | 55609;55610;55611 | chr2:178588637;178588636;178588635 | chr2:179453364;179453363;179453362 |
| N2B | 11965 | 36118;36119;36120 | chr2:178588637;178588636;178588635 | chr2:179453364;179453363;179453362 |
| Novex-1 | 12090 | 36493;36494;36495 | chr2:178588637;178588636;178588635 | chr2:179453364;179453363;179453362 |
| Novex-2 | 12157 | 36694;36695;36696 | chr2:178588637;178588636;178588635 | chr2:179453364;179453363;179453362 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/L | rs886042482  |
None | 1.0 | N | 0.761 | 0.513 | 0.827809084627 | gnomAD-4.0.0 | 6.87713E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.01938E-07 | 0 | 0 |
| P/Q | rs886042482 |
-0.819 | 1.0 | N | 0.777 | 0.469 | 0.662738656811 | gnomAD-2.1.1 | 1.24E-05 | None | None | None | None | N | None | 0 | 8.96E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/Q | rs886042482 |
-0.819 | 1.0 | N | 0.777 | 0.469 | 0.662738656811 | gnomAD-4.0.0 | 2.06314E-06 | None | None | None | None | N | None | 0 | 6.86593E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/R | None | None | 1.0 | N | 0.773 | 0.532 | 0.751018391696 | gnomAD-4.0.0 | 1.37543E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.80388E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.108 | likely_benign | 0.0962 | benign | -1.458 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | N | 0.487414303 | None | None | N |
| P/C | 0.6085 | likely_pathogenic | 0.568 | pathogenic | -0.651 | Destabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | N |
| P/D | 0.7424 | likely_pathogenic | 0.6593 | pathogenic | -1.645 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| P/E | 0.383 | ambiguous | 0.3106 | benign | -1.695 | Destabilizing | 1.0 | D | 0.756 | deleterious | None | None | None | None | N |
| P/F | 0.7169 | likely_pathogenic | 0.6874 | pathogenic | -1.341 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | N |
| P/G | 0.4585 | ambiguous | 0.3927 | ambiguous | -1.72 | Destabilizing | 1.0 | D | 0.75 | deleterious | None | None | None | None | N |
| P/H | 0.3675 | ambiguous | 0.3293 | benign | -1.376 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| P/I | 0.4537 | ambiguous | 0.4005 | ambiguous | -0.846 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| P/K | 0.4381 | ambiguous | 0.3488 | ambiguous | -1.298 | Destabilizing | 1.0 | D | 0.752 | deleterious | None | None | None | None | N |
| P/L | 0.2154 | likely_benign | 0.2023 | benign | -0.846 | Destabilizing | 1.0 | D | 0.761 | deleterious | N | 0.50092711 | None | None | N |
| P/M | 0.4566 | ambiguous | 0.425 | ambiguous | -0.419 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| P/N | 0.5755 | likely_pathogenic | 0.5003 | ambiguous | -0.915 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| P/Q | 0.2422 | likely_benign | 0.2159 | benign | -1.169 | Destabilizing | 1.0 | D | 0.777 | deleterious | N | 0.485683238 | None | None | N |
| P/R | 0.3021 | likely_benign | 0.2488 | benign | -0.66 | Destabilizing | 1.0 | D | 0.773 | deleterious | N | 0.509067412 | None | None | N |
| P/S | 0.2291 | likely_benign | 0.197 | benign | -1.269 | Destabilizing | 1.0 | D | 0.757 | deleterious | N | 0.519226242 | None | None | N |
| P/T | 0.1653 | likely_benign | 0.1449 | benign | -1.233 | Destabilizing | 1.0 | D | 0.753 | deleterious | N | 0.490202688 | None | None | N |
| P/V | 0.2902 | likely_benign | 0.2513 | benign | -1.018 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| P/W | 0.8215 | likely_pathogenic | 0.792 | pathogenic | -1.526 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| P/Y | 0.6853 | likely_pathogenic | 0.6312 | pathogenic | -1.28 | 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.