Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20152 | 60679;60680;60681 | chr2:178591271;178591270;178591269 | chr2:179455998;179455997;179455996 |
| N2AB | 18511 | 55756;55757;55758 | chr2:178591271;178591270;178591269 | chr2:179455998;179455997;179455996 |
| N2A | 17584 | 52975;52976;52977 | chr2:178591271;178591270;178591269 | chr2:179455998;179455997;179455996 |
| N2B | 11087 | 33484;33485;33486 | chr2:178591271;178591270;178591269 | chr2:179455998;179455997;179455996 |
| Novex-1 | 11212 | 33859;33860;33861 | chr2:178591271;178591270;178591269 | chr2:179455998;179455997;179455996 |
| Novex-2 | 11279 | 34060;34061;34062 | chr2:178591271;178591270;178591269 | chr2:179455998;179455997;179455996 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | None | None | 0.999 | N | 0.601 | 0.484 | 0.51230852224 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| T/I | rs2050136717  |
None | 1.0 | N | 0.875 | 0.416 | 0.744318758753 | gnomAD-4.0.0 | 7.5287E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99679E-06 | 0 | 1.65706E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0921 | likely_benign | 0.0955 | benign | -0.897 | Destabilizing | 0.999 | D | 0.601 | neutral | N | 0.501203372 | None | None | N |
| T/C | 0.3891 | ambiguous | 0.4083 | ambiguous | -0.737 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| T/D | 0.5691 | likely_pathogenic | 0.6024 | pathogenic | -0.692 | Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | N |
| T/E | 0.3581 | ambiguous | 0.4028 | ambiguous | -0.654 | Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| T/F | 0.3001 | likely_benign | 0.347 | ambiguous | -0.915 | Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | None | None | N |
| T/G | 0.3556 | ambiguous | 0.3748 | ambiguous | -1.179 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| T/H | 0.2703 | likely_benign | 0.3021 | benign | -1.502 | Destabilizing | 1.0 | D | 0.89 | deleterious | None | None | None | None | N |
| T/I | 0.1478 | likely_benign | 0.1648 | benign | -0.225 | Destabilizing | 1.0 | D | 0.875 | deleterious | N | 0.502717994 | None | None | N |
| T/K | 0.2253 | likely_benign | 0.2679 | benign | -0.745 | Destabilizing | 1.0 | D | 0.871 | deleterious | D | 0.53018981 | None | None | N |
| T/L | 0.1235 | likely_benign | 0.1339 | benign | -0.225 | Destabilizing | 0.999 | D | 0.735 | prob.delet. | None | None | None | None | N |
| T/M | 0.0926 | likely_benign | 0.0951 | benign | 0.016 | Stabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| T/N | 0.1845 | likely_benign | 0.204 | benign | -0.846 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| T/P | 0.807 | likely_pathogenic | 0.8219 | pathogenic | -0.417 | Destabilizing | 1.0 | D | 0.863 | deleterious | D | 0.542224502 | None | None | N |
| T/Q | 0.2347 | likely_benign | 0.2619 | benign | -1.008 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| T/R | 0.193 | likely_benign | 0.2304 | benign | -0.587 | Destabilizing | 1.0 | D | 0.872 | deleterious | D | 0.534270265 | None | None | N |
| T/S | 0.1344 | likely_benign | 0.1438 | benign | -1.099 | Destabilizing | 0.999 | D | 0.579 | neutral | N | 0.492315829 | None | None | N |
| T/V | 0.1231 | likely_benign | 0.131 | benign | -0.417 | Destabilizing | 0.999 | D | 0.626 | neutral | None | None | None | None | N |
| T/W | 0.6802 | likely_pathogenic | 0.7125 | pathogenic | -0.861 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| T/Y | 0.3734 | ambiguous | 0.4113 | ambiguous | -0.592 | Destabilizing | 1.0 | D | 0.898 | 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.