Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2373 | 7342;7343;7344 | chr2:178774051;178774050;178774049 | chr2:179638778;179638777;179638776 |
| N2AB | 2373 | 7342;7343;7344 | chr2:178774051;178774050;178774049 | chr2:179638778;179638777;179638776 |
| N2A | 2373 | 7342;7343;7344 | chr2:178774051;178774050;178774049 | chr2:179638778;179638777;179638776 |
| N2B | 2327 | 7204;7205;7206 | chr2:178774051;178774050;178774049 | chr2:179638778;179638777;179638776 |
| Novex-1 | 2327 | 7204;7205;7206 | chr2:178774051;178774050;178774049 | chr2:179638778;179638777;179638776 |
| Novex-2 | 2327 | 7204;7205;7206 | chr2:178774051;178774050;178774049 | chr2:179638778;179638777;179638776 |
| Novex-3 | 2373 | 7342;7343;7344 | chr2:178774051;178774050;178774049 | chr2:179638778;179638777;179638776 |
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/F | rs759496021  |
-1.579 | 0.995 | D | 0.789 | 0.772 | 0.922070583027 | gnomAD-2.1.1 | 1.77E-05 | None | None | None | None | N | None | 4.01E-05 | 8.47E-05 | None | 0 | 0 | None | 0 | None | 0 | 7.76E-06 | 0 |
| V/F | rs759496021 |
-1.579 | 0.995 | D | 0.789 | 0.772 | 0.922070583027 | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 0 | 2.61814E-04 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| V/F | rs759496021 |
-1.579 | 0.995 | D | 0.789 | 0.772 | 0.922070583027 | gnomAD-4.0.0 | 1.42508E-05 | None | None | None | None | N | None | 1.33479E-05 | 1.5001E-04 | None | 0 | 0 | None | 0 | 0 | 8.47468E-06 | 0 | 4.80154E-05 |
| V/I | None | None | 0.78 | D | 0.601 | 0.441 | 0.670434146419 | gnomAD-4.0.0 | 6.84097E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99311E-07 | 0 | 0 |
| V/L | None | None | 0.78 | D | 0.565 | 0.527 | 0.625611624611 | gnomAD-4.0.0 | 6.84097E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15931E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.3819 | ambiguous | 0.3436 | ambiguous | -1.624 | Destabilizing | 0.004 | N | 0.237 | neutral | N | 0.443332326 | None | None | N |
| V/C | 0.8446 | likely_pathogenic | 0.822 | pathogenic | -1.049 | Destabilizing | 0.999 | D | 0.753 | deleterious | None | None | None | None | N |
| V/D | 0.9819 | likely_pathogenic | 0.975 | pathogenic | -1.727 | Destabilizing | 0.984 | D | 0.803 | deleterious | D | 0.619347014 | None | None | N |
| V/E | 0.9519 | likely_pathogenic | 0.9365 | pathogenic | -1.664 | Destabilizing | 0.976 | D | 0.738 | prob.delet. | None | None | None | None | N |
| V/F | 0.5643 | likely_pathogenic | 0.5046 | ambiguous | -1.072 | Destabilizing | 0.995 | D | 0.789 | deleterious | D | 0.596783889 | None | None | N |
| V/G | 0.6743 | likely_pathogenic | 0.6302 | pathogenic | -1.999 | Destabilizing | 0.811 | D | 0.694 | prob.neutral | D | 0.595760225 | None | None | N |
| V/H | 0.9782 | likely_pathogenic | 0.9693 | pathogenic | -1.51 | Destabilizing | 0.999 | D | 0.794 | deleterious | None | None | None | None | N |
| V/I | 0.108 | likely_benign | 0.1008 | benign | -0.662 | Destabilizing | 0.78 | D | 0.601 | neutral | D | 0.537082221 | None | None | N |
| V/K | 0.9548 | likely_pathogenic | 0.9396 | pathogenic | -1.549 | Destabilizing | 0.976 | D | 0.748 | deleterious | None | None | None | None | N |
| V/L | 0.3803 | ambiguous | 0.336 | benign | -0.662 | Destabilizing | 0.78 | D | 0.565 | neutral | D | 0.541770982 | None | None | N |
| V/M | 0.3606 | ambiguous | 0.3121 | benign | -0.519 | Destabilizing | 0.996 | D | 0.669 | neutral | None | None | None | None | N |
| V/N | 0.9426 | likely_pathogenic | 0.9184 | pathogenic | -1.431 | Destabilizing | 0.988 | D | 0.816 | deleterious | None | None | None | None | N |
| V/P | 0.9895 | likely_pathogenic | 0.9893 | pathogenic | -0.95 | Destabilizing | 0.988 | D | 0.761 | deleterious | None | None | None | None | N |
| V/Q | 0.9124 | likely_pathogenic | 0.8895 | pathogenic | -1.517 | Destabilizing | 0.988 | D | 0.773 | deleterious | None | None | None | None | N |
| V/R | 0.922 | likely_pathogenic | 0.9003 | pathogenic | -1.045 | Destabilizing | 0.988 | D | 0.813 | deleterious | None | None | None | None | N |
| V/S | 0.6967 | likely_pathogenic | 0.6349 | pathogenic | -1.94 | Destabilizing | 0.851 | D | 0.66 | neutral | None | None | None | None | N |
| V/T | 0.5394 | ambiguous | 0.476 | ambiguous | -1.763 | Destabilizing | 0.919 | D | 0.609 | neutral | None | None | None | None | N |
| V/W | 0.9887 | likely_pathogenic | 0.9844 | pathogenic | -1.358 | Destabilizing | 0.999 | D | 0.789 | deleterious | None | None | None | None | N |
| V/Y | 0.948 | likely_pathogenic | 0.9324 | pathogenic | -1.055 | Destabilizing | 0.996 | D | 0.768 | 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.