Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1007 | 3244;3245;3246 | chr2:178782887;178782886;178782885 | chr2:179647614;179647613;179647612 |
| N2AB | 1007 | 3244;3245;3246 | chr2:178782887;178782886;178782885 | chr2:179647614;179647613;179647612 |
| N2A | 1007 | 3244;3245;3246 | chr2:178782887;178782886;178782885 | chr2:179647614;179647613;179647612 |
| N2B | 961 | 3106;3107;3108 | chr2:178782887;178782886;178782885 | chr2:179647614;179647613;179647612 |
| Novex-1 | 961 | 3106;3107;3108 | chr2:178782887;178782886;178782885 | chr2:179647614;179647613;179647612 |
| Novex-2 | 961 | 3106;3107;3108 | chr2:178782887;178782886;178782885 | chr2:179647614;179647613;179647612 |
| Novex-3 | 1007 | 3244;3245;3246 | chr2:178782887;178782886;178782885 | chr2:179647614;179647613;179647612 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/T | None | None | 1.0 | N | 0.619 | 0.342 | 0.36355261348 | gnomAD-4.0.0 | 1.36819E-06 | None | None | None | None | N | None | 0 | 4.47247E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/V | rs749564348  |
-0.374 | 1.0 | N | 0.547 | 0.368 | 0.525049811399 | gnomAD-2.1.1 | 1.2E-05 | None | None | None | None | N | None | 6.15E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.83E-06 | 1.63506E-04 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.9225 | likely_pathogenic | 0.9153 | pathogenic | -0.8 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | N |
| A/D | 0.8876 | likely_pathogenic | 0.8638 | pathogenic | -0.614 | Destabilizing | 1.0 | D | 0.734 | prob.delet. | None | None | None | None | N |
| A/E | 0.7117 | likely_pathogenic | 0.6687 | pathogenic | -0.759 | Destabilizing | 1.0 | D | 0.702 | prob.neutral | N | 0.460425352 | None | None | N |
| A/F | 0.8027 | likely_pathogenic | 0.7736 | pathogenic | -0.984 | Destabilizing | 1.0 | D | 0.754 | deleterious | None | None | None | None | N |
| A/G | 0.4688 | ambiguous | 0.4412 | ambiguous | -0.545 | Destabilizing | 1.0 | D | 0.477 | neutral | N | 0.521532356 | None | None | N |
| A/H | 0.8733 | likely_pathogenic | 0.8556 | pathogenic | -0.554 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | N |
| A/I | 0.7747 | likely_pathogenic | 0.742 | pathogenic | -0.427 | Destabilizing | 1.0 | D | 0.683 | prob.neutral | None | None | None | None | N |
| A/K | 0.8598 | likely_pathogenic | 0.8393 | pathogenic | -0.794 | Destabilizing | 1.0 | D | 0.694 | prob.neutral | None | None | None | None | N |
| A/L | 0.4762 | ambiguous | 0.4403 | ambiguous | -0.427 | Destabilizing | 1.0 | D | 0.613 | neutral | None | None | None | None | N |
| A/M | 0.6534 | likely_pathogenic | 0.6159 | pathogenic | -0.412 | Destabilizing | 1.0 | D | 0.698 | prob.neutral | None | None | None | None | N |
| A/N | 0.8165 | likely_pathogenic | 0.7842 | pathogenic | -0.433 | Destabilizing | 1.0 | D | 0.748 | deleterious | None | None | None | None | N |
| A/P | 0.7164 | likely_pathogenic | 0.6448 | pathogenic | -0.402 | Destabilizing | 1.0 | D | 0.71 | prob.delet. | N | 0.459047754 | None | None | N |
| A/Q | 0.6732 | likely_pathogenic | 0.6397 | pathogenic | -0.732 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| A/R | 0.7451 | likely_pathogenic | 0.7119 | pathogenic | -0.287 | Destabilizing | 1.0 | D | 0.72 | prob.delet. | None | None | None | None | N |
| A/S | 0.191 | likely_benign | 0.1768 | benign | -0.661 | Destabilizing | 1.0 | D | 0.49 | neutral | N | 0.510990293 | None | None | N |
| A/T | 0.3839 | ambiguous | 0.3475 | ambiguous | -0.726 | Destabilizing | 1.0 | D | 0.619 | neutral | N | 0.516818224 | None | None | N |
| A/V | 0.5242 | ambiguous | 0.4806 | ambiguous | -0.402 | Destabilizing | 1.0 | D | 0.547 | neutral | N | 0.501957761 | None | None | N |
| A/W | 0.9655 | likely_pathogenic | 0.9577 | pathogenic | -1.118 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| A/Y | 0.8929 | likely_pathogenic | 0.8787 | pathogenic | -0.779 | Destabilizing | 1.0 | D | 0.749 | 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.