Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21058 | 63397;63398;63399 | chr2:178588553;178588552;178588551 | chr2:179453280;179453279;179453278 |
| N2AB | 19417 | 58474;58475;58476 | chr2:178588553;178588552;178588551 | chr2:179453280;179453279;179453278 |
| N2A | 18490 | 55693;55694;55695 | chr2:178588553;178588552;178588551 | chr2:179453280;179453279;179453278 |
| N2B | 11993 | 36202;36203;36204 | chr2:178588553;178588552;178588551 | chr2:179453280;179453279;179453278 |
| Novex-1 | 12118 | 36577;36578;36579 | chr2:178588553;178588552;178588551 | chr2:179453280;179453279;179453278 |
| Novex-2 | 12185 | 36778;36779;36780 | chr2:178588553;178588552;178588551 | chr2:179453280;179453279;179453278 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/S | None | None | 0.999 | N | 0.611 | 0.303 | 0.384252928164 | gnomAD-4.0.0 | 1.85014E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.90505E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.6343 | likely_pathogenic | 0.5828 | pathogenic | -1.76 | Destabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | N |
| A/D | 0.9979 | likely_pathogenic | 0.9957 | pathogenic | -3.019 | Highly Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| A/E | 0.9944 | likely_pathogenic | 0.987 | pathogenic | -2.802 | Highly Destabilizing | 1.0 | D | 0.785 | deleterious | N | 0.497711792 | None | None | N |
| A/F | 0.9829 | likely_pathogenic | 0.9703 | pathogenic | -0.797 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | N |
| A/G | 0.5532 | ambiguous | 0.4738 | ambiguous | -1.996 | Destabilizing | 0.999 | D | 0.563 | neutral | N | 0.489002059 | None | None | N |
| A/H | 0.9966 | likely_pathogenic | 0.9925 | pathogenic | -2.164 | Highly Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| A/I | 0.9138 | likely_pathogenic | 0.8451 | pathogenic | -0.327 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| A/K | 0.9983 | likely_pathogenic | 0.9949 | pathogenic | -1.48 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| A/L | 0.8283 | likely_pathogenic | 0.7347 | pathogenic | -0.327 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| A/M | 0.8831 | likely_pathogenic | 0.8291 | pathogenic | -0.811 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| A/N | 0.9877 | likely_pathogenic | 0.9771 | pathogenic | -1.937 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| A/P | 0.8859 | likely_pathogenic | 0.8011 | pathogenic | -0.698 | Destabilizing | 1.0 | D | 0.783 | deleterious | N | 0.486467164 | None | None | N |
| A/Q | 0.9849 | likely_pathogenic | 0.9689 | pathogenic | -1.697 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| A/R | 0.9923 | likely_pathogenic | 0.9819 | pathogenic | -1.552 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| A/S | 0.3655 | ambiguous | 0.319 | benign | -2.277 | Highly Destabilizing | 0.999 | D | 0.611 | neutral | N | 0.471947761 | None | None | N |
| A/T | 0.7018 | likely_pathogenic | 0.5966 | pathogenic | -1.948 | Destabilizing | 1.0 | D | 0.768 | deleterious | N | 0.443711684 | None | None | N |
| A/V | 0.7127 | likely_pathogenic | 0.5823 | pathogenic | -0.698 | Destabilizing | 0.999 | D | 0.7 | prob.delet. | N | 0.500546402 | None | None | N |
| A/W | 0.9984 | likely_pathogenic | 0.9964 | pathogenic | -1.528 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| A/Y | 0.9955 | likely_pathogenic | 0.99 | pathogenic | -1.12 | Destabilizing | 1.0 | D | 0.824 | 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.