Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21418 | 64477;64478;64479 | chr2:178586649;178586648;178586647 | chr2:179451376;179451375;179451374 |
| N2AB | 19777 | 59554;59555;59556 | chr2:178586649;178586648;178586647 | chr2:179451376;179451375;179451374 |
| N2A | 18850 | 56773;56774;56775 | chr2:178586649;178586648;178586647 | chr2:179451376;179451375;179451374 |
| N2B | 12353 | 37282;37283;37284 | chr2:178586649;178586648;178586647 | chr2:179451376;179451375;179451374 |
| Novex-1 | 12478 | 37657;37658;37659 | chr2:178586649;178586648;178586647 | chr2:179451376;179451375;179451374 |
| Novex-2 | 12545 | 37858;37859;37860 | chr2:178586649;178586648;178586647 | chr2:179451376;179451375;179451374 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/S | rs573165930  |
-2.109 | 1.0 | N | 0.781 | 0.495 | 0.651263363685 | gnomAD-2.1.1 | 5.36E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 7.7232E-04 | None | 0 | None | 0 | 0 | 0 |
| Y/S | rs573165930 |
-2.109 | 1.0 | N | 0.781 | 0.495 | 0.651263363685 | gnomAD-3.1.2 | 3.95E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.16414E-03 | None | 0 | 0 | 0 | 0 | 0 |
| Y/S | rs573165930 |
-2.109 | 1.0 | N | 0.781 | 0.495 | 0.651263363685 | 1000 genomes | 5.99042E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 3E-03 | 0 | None | None | None | 0 | None |
| Y/S | rs573165930 |
-2.109 | 1.0 | N | 0.781 | 0.495 | 0.651263363685 | gnomAD-4.0.0 | 1.54971E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 4.69043E-04 | None | 0 | 0 | 0 | 3.29431E-05 | 1.60118E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.8131 | likely_pathogenic | 0.7535 | pathogenic | -1.736 | Destabilizing | 1.0 | D | 0.726 | prob.delet. | None | None | None | None | N |
| Y/C | 0.3574 | ambiguous | 0.3309 | benign | -0.82 | Destabilizing | 1.0 | D | 0.771 | deleterious | N | 0.432670758 | None | None | N |
| Y/D | 0.8884 | likely_pathogenic | 0.8213 | pathogenic | 0.076 | Stabilizing | 1.0 | D | 0.811 | deleterious | N | 0.497700885 | None | None | N |
| Y/E | 0.9629 | likely_pathogenic | 0.9341 | pathogenic | 0.177 | Stabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| Y/F | 0.1322 | likely_benign | 0.1106 | benign | -0.557 | Destabilizing | 0.999 | D | 0.501 | neutral | N | 0.469204775 | None | None | N |
| Y/G | 0.8069 | likely_pathogenic | 0.7421 | pathogenic | -2.05 | Highly Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | N |
| Y/H | 0.6052 | likely_pathogenic | 0.5041 | ambiguous | -0.55 | Destabilizing | 1.0 | D | 0.674 | neutral | N | 0.486195812 | None | None | N |
| Y/I | 0.6777 | likely_pathogenic | 0.6068 | pathogenic | -0.803 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | N |
| Y/K | 0.9346 | likely_pathogenic | 0.8953 | pathogenic | -0.824 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| Y/L | 0.7462 | likely_pathogenic | 0.6955 | pathogenic | -0.803 | Destabilizing | 0.999 | D | 0.691 | prob.neutral | None | None | None | None | N |
| Y/M | 0.8277 | likely_pathogenic | 0.7743 | pathogenic | -0.688 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| Y/N | 0.675 | likely_pathogenic | 0.5616 | ambiguous | -1.22 | Destabilizing | 1.0 | D | 0.787 | deleterious | N | 0.50326142 | None | None | N |
| Y/P | 0.981 | likely_pathogenic | 0.9708 | pathogenic | -1.106 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | N |
| Y/Q | 0.9234 | likely_pathogenic | 0.8761 | pathogenic | -1.023 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | N |
| Y/R | 0.895 | likely_pathogenic | 0.8468 | pathogenic | -0.602 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | N |
| Y/S | 0.7248 | likely_pathogenic | 0.6469 | pathogenic | -1.818 | Destabilizing | 1.0 | D | 0.781 | deleterious | N | 0.468359413 | None | None | N |
| Y/T | 0.8352 | likely_pathogenic | 0.768 | pathogenic | -1.613 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| Y/V | 0.5496 | ambiguous | 0.499 | ambiguous | -1.106 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| Y/W | 0.6763 | likely_pathogenic | 0.6431 | pathogenic | -0.226 | Destabilizing | 1.0 | D | 0.673 | neutral | 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.