Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 13832 | 41719;41720;41721 | chr2:178636077;178636076;178636075 | chr2:179500804;179500803;179500802 |
| N2AB | 12191 | 36796;36797;36798 | chr2:178636077;178636076;178636075 | chr2:179500804;179500803;179500802 |
| N2A | 11264 | 34015;34016;34017 | chr2:178636077;178636076;178636075 | chr2:179500804;179500803;179500802 |
| N2B | 4767 | 14524;14525;14526 | chr2:178636077;178636076;178636075 | chr2:179500804;179500803;179500802 |
| Novex-1 | 4892 | 14899;14900;14901 | chr2:178636077;178636076;178636075 | chr2:179500804;179500803;179500802 |
| Novex-2 | 4959 | 15100;15101;15102 | chr2:178636077;178636076;178636075 | chr2:179500804;179500803;179500802 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/S | rs2060400293  |
None | 1.0 | D | 0.711 | 0.587 | 0.750718085193 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/S | rs2060400293 |
None | 1.0 | D | 0.711 | 0.587 | 0.750718085193 | gnomAD-4.0.0 | 6.57748E-06 | None | None | None | None | N | None | 2.41406E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.6541 | likely_pathogenic | 0.7203 | pathogenic | -0.277 | Destabilizing | 1.0 | D | 0.723 | deleterious | D | 0.561780076 | None | None | N |
| G/C | 0.8029 | likely_pathogenic | 0.8485 | pathogenic | -0.777 | Destabilizing | 1.0 | D | 0.752 | deleterious | D | 0.677320283 | None | None | N |
| G/D | 0.785 | likely_pathogenic | 0.8595 | pathogenic | -0.884 | Destabilizing | 1.0 | D | 0.6 | neutral | D | 0.540417493 | None | None | N |
| G/E | 0.8725 | likely_pathogenic | 0.9305 | pathogenic | -1.024 | Destabilizing | 1.0 | D | 0.721 | deleterious | None | None | None | None | N |
| G/F | 0.9649 | likely_pathogenic | 0.9786 | pathogenic | -0.907 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| G/H | 0.9207 | likely_pathogenic | 0.9487 | pathogenic | -0.551 | Destabilizing | 1.0 | D | 0.756 | deleterious | None | None | None | None | N |
| G/I | 0.9599 | likely_pathogenic | 0.9754 | pathogenic | -0.339 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| G/K | 0.9507 | likely_pathogenic | 0.9702 | pathogenic | -0.997 | Destabilizing | 1.0 | D | 0.725 | deleterious | None | None | None | None | N |
| G/L | 0.9417 | likely_pathogenic | 0.9595 | pathogenic | -0.339 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| G/M | 0.9701 | likely_pathogenic | 0.9799 | pathogenic | -0.481 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| G/N | 0.8084 | likely_pathogenic | 0.8637 | pathogenic | -0.584 | Destabilizing | 1.0 | D | 0.683 | prob.neutral | None | None | None | None | N |
| G/P | 0.9858 | likely_pathogenic | 0.9901 | pathogenic | -0.284 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| G/Q | 0.9116 | likely_pathogenic | 0.9423 | pathogenic | -0.859 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| G/R | 0.8752 | likely_pathogenic | 0.9225 | pathogenic | -0.513 | Destabilizing | 1.0 | D | 0.781 | deleterious | D | 0.60739055 | None | None | N |
| G/S | 0.3867 | ambiguous | 0.456 | ambiguous | -0.679 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | D | 0.540747963 | None | None | N |
| G/T | 0.8585 | likely_pathogenic | 0.9 | pathogenic | -0.758 | Destabilizing | 1.0 | D | 0.724 | deleterious | None | None | None | None | N |
| G/V | 0.9191 | likely_pathogenic | 0.9495 | pathogenic | -0.284 | Destabilizing | 1.0 | D | 0.731 | deleterious | D | 0.60739055 | None | None | N |
| G/W | 0.9258 | likely_pathogenic | 0.9522 | pathogenic | -1.113 | Destabilizing | 1.0 | D | 0.748 | deleterious | None | None | None | None | N |
| G/Y | 0.9368 | likely_pathogenic | 0.9597 | pathogenic | -0.76 | Destabilizing | 1.0 | D | 0.781 | 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.