Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2931 | 9016;9017;9018 | chr2:178769790;178769789;178769788 | chr2:179634517;179634516;179634515 |
| N2AB | 2931 | 9016;9017;9018 | chr2:178769790;178769789;178769788 | chr2:179634517;179634516;179634515 |
| N2A | 2931 | 9016;9017;9018 | chr2:178769790;178769789;178769788 | chr2:179634517;179634516;179634515 |
| N2B | 2885 | 8878;8879;8880 | chr2:178769790;178769789;178769788 | chr2:179634517;179634516;179634515 |
| Novex-1 | 2885 | 8878;8879;8880 | chr2:178769790;178769789;178769788 | chr2:179634517;179634516;179634515 |
| Novex-2 | 2885 | 8878;8879;8880 | chr2:178769790;178769789;178769788 | chr2:179634517;179634516;179634515 |
| Novex-3 | 2931 | 9016;9017;9018 | chr2:178769790;178769789;178769788 | chr2:179634517;179634516;179634515 |
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 | 0.996 | N | 0.627 | 0.437 | 0.59300205564 | gnomAD-4.0.0 | 2.73625E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59718E-06 | 0 | 0 |
| V/L | rs756031984  |
-0.382 | 0.981 | N | 0.536 | 0.282 | 0.488196290542 | gnomAD-2.1.1 | 3.99E-06 | None | None | None | None | N | None | 6.15E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/M | rs756031984 |
-0.402 | 0.981 | D | 0.483 | 0.289 | 0.520749599713 | gnomAD-2.1.1 | 3.99E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| V/M | rs756031984 |
-0.402 | 0.981 | D | 0.483 | 0.289 | 0.520749599713 | gnomAD-4.0.0 | 1.59046E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43271E-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 | 0.8294 | likely_pathogenic | 0.7658 | pathogenic | -0.975 | Destabilizing | 0.996 | D | 0.627 | neutral | N | 0.482723168 | None | None | N |
| V/C | 0.9642 | likely_pathogenic | 0.9522 | pathogenic | -0.695 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | N |
| V/D | 0.9633 | likely_pathogenic | 0.9436 | pathogenic | -0.964 | Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | N |
| V/E | 0.8938 | likely_pathogenic | 0.8659 | pathogenic | -1.048 | Destabilizing | 1.0 | D | 0.771 | deleterious | N | 0.491788412 | None | None | N |
| V/F | 0.6494 | likely_pathogenic | 0.5608 | ambiguous | -0.95 | Destabilizing | 0.999 | D | 0.743 | deleterious | None | None | None | None | N |
| V/G | 0.8492 | likely_pathogenic | 0.8028 | pathogenic | -1.183 | Destabilizing | 0.999 | D | 0.781 | deleterious | N | 0.512977867 | None | None | N |
| V/H | 0.9696 | likely_pathogenic | 0.9588 | pathogenic | -0.704 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| V/I | 0.1712 | likely_benign | 0.1521 | benign | -0.547 | Destabilizing | 0.985 | D | 0.578 | neutral | None | None | None | None | N |
| V/K | 0.9237 | likely_pathogenic | 0.907 | pathogenic | -0.934 | Destabilizing | 1.0 | D | 0.77 | deleterious | None | None | None | None | N |
| V/L | 0.7791 | likely_pathogenic | 0.7129 | pathogenic | -0.547 | Destabilizing | 0.981 | D | 0.536 | neutral | N | 0.511979981 | None | None | N |
| V/M | 0.6324 | likely_pathogenic | 0.543 | ambiguous | -0.41 | Destabilizing | 0.981 | D | 0.483 | neutral | D | 0.549617586 | None | None | N |
| V/N | 0.9036 | likely_pathogenic | 0.8661 | pathogenic | -0.608 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| V/P | 0.9745 | likely_pathogenic | 0.9613 | pathogenic | -0.654 | Destabilizing | 1.0 | D | 0.77 | deleterious | None | None | None | None | N |
| V/Q | 0.8651 | likely_pathogenic | 0.8447 | pathogenic | -0.882 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| V/R | 0.8919 | likely_pathogenic | 0.867 | pathogenic | -0.3 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| V/S | 0.8169 | likely_pathogenic | 0.7592 | pathogenic | -0.983 | Destabilizing | 1.0 | D | 0.76 | deleterious | None | None | None | None | N |
| V/T | 0.7294 | likely_pathogenic | 0.674 | pathogenic | -0.973 | Destabilizing | 0.998 | D | 0.685 | prob.neutral | None | None | None | None | N |
| V/W | 0.9881 | likely_pathogenic | 0.9849 | pathogenic | -1.046 | Destabilizing | 1.0 | D | 0.76 | deleterious | None | None | None | None | N |
| V/Y | 0.9509 | likely_pathogenic | 0.9333 | pathogenic | -0.786 | Destabilizing | 1.0 | D | 0.753 | 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.