Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16601 | 50026;50027;50028 | chr2:178612920;178612919;178612918 | chr2:179477647;179477646;179477645 |
| N2AB | 14960 | 45103;45104;45105 | chr2:178612920;178612919;178612918 | chr2:179477647;179477646;179477645 |
| N2A | 14033 | 42322;42323;42324 | chr2:178612920;178612919;178612918 | chr2:179477647;179477646;179477645 |
| N2B | 7536 | 22831;22832;22833 | chr2:178612920;178612919;178612918 | chr2:179477647;179477646;179477645 |
| Novex-1 | 7661 | 23206;23207;23208 | chr2:178612920;178612919;178612918 | chr2:179477647;179477646;179477645 |
| Novex-2 | 7728 | 23407;23408;23409 | chr2:178612920;178612919;178612918 | chr2:179477647;179477646;179477645 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | None | None | 0.998 | N | 0.463 | 0.398 | 0.543910352347 | gnomAD-4.0.0 | 1.36927E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79964E-06 | 0 | 0 |
| V/G | rs1337504534  |
-2.444 | 1.0 | D | 0.765 | 0.53 | 0.880258974115 | 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 |
| V/G | rs1337504534 |
-2.444 | 1.0 | D | 0.765 | 0.53 | 0.880258974115 | gnomAD-4.0.0 | 6.84637E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99818E-07 | 0 | 0 |
| V/L | rs773271774 |
-0.659 | 0.434 | N | 0.306 | 0.158 | 0.296329037015 | gnomAD-2.1.1 | 7.88E-05 | None | None | None | None | I | None | 0 | 3.96893E-04 | None | 0 | 0 | None | 0 | None | 0 | 3.92E-05 | 4.22416E-04 |
| V/L | rs773271774 |
-0.659 | 0.434 | N | 0.306 | 0.158 | 0.296329037015 | gnomAD-3.1.2 | 5.92E-05 | None | None | None | None | I | None | 0 | 5.24453E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.78011E-04 |
| V/L | rs773271774 |
-0.659 | 0.434 | N | 0.306 | 0.158 | 0.296329037015 | gnomAD-4.0.0 | 4.58889E-05 | None | None | None | None | I | None | 0 | 4.67368E-04 | None | 0 | 0 | None | 0 | 0 | 3.47673E-05 | 0 | 8.0141E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.3184 | likely_benign | 0.3516 | ambiguous | -1.356 | Destabilizing | 0.998 | D | 0.463 | neutral | N | 0.482584236 | None | None | I |
| V/C | 0.8684 | likely_pathogenic | 0.8629 | pathogenic | -0.976 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | I |
| V/D | 0.9065 | likely_pathogenic | 0.951 | pathogenic | -1.415 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | I |
| V/E | 0.7984 | likely_pathogenic | 0.8774 | pathogenic | -1.371 | Destabilizing | 1.0 | D | 0.766 | deleterious | D | 0.572302305 | None | None | I |
| V/F | 0.4339 | ambiguous | 0.4573 | ambiguous | -0.961 | Destabilizing | 0.999 | D | 0.801 | deleterious | None | None | None | None | I |
| V/G | 0.5586 | ambiguous | 0.6599 | pathogenic | -1.684 | Destabilizing | 1.0 | D | 0.765 | deleterious | D | 0.601687902 | None | None | I |
| V/H | 0.914 | likely_pathogenic | 0.9436 | pathogenic | -1.055 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | I |
| V/I | 0.1141 | likely_benign | 0.1023 | benign | -0.541 | Destabilizing | 0.985 | D | 0.447 | neutral | None | None | None | None | I |
| V/K | 0.822 | likely_pathogenic | 0.8865 | pathogenic | -1.235 | Destabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | I |
| V/L | 0.4406 | ambiguous | 0.4351 | ambiguous | -0.541 | Destabilizing | 0.434 | N | 0.306 | neutral | N | 0.476003978 | None | None | I |
| V/M | 0.363 | ambiguous | 0.3664 | ambiguous | -0.539 | Destabilizing | 0.999 | D | 0.713 | prob.delet. | D | 0.581218506 | None | None | I |
| V/N | 0.8289 | likely_pathogenic | 0.8825 | pathogenic | -1.212 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | I |
| V/P | 0.9524 | likely_pathogenic | 0.9687 | pathogenic | -0.779 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | I |
| V/Q | 0.7995 | likely_pathogenic | 0.8693 | pathogenic | -1.308 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | I |
| V/R | 0.7956 | likely_pathogenic | 0.8708 | pathogenic | -0.73 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | I |
| V/S | 0.6168 | likely_pathogenic | 0.6962 | pathogenic | -1.679 | Destabilizing | 1.0 | D | 0.758 | deleterious | None | None | None | None | I |
| V/T | 0.3924 | ambiguous | 0.4372 | ambiguous | -1.515 | Destabilizing | 0.998 | D | 0.523 | neutral | None | None | None | None | I |
| V/W | 0.9563 | likely_pathogenic | 0.9678 | pathogenic | -1.182 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | I |
| V/Y | 0.8668 | likely_pathogenic | 0.8883 | pathogenic | -0.861 | Destabilizing | 1.0 | D | 0.815 | 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.