Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29400 | 88423;88424;88425 | chr2:178556956;178556955;178556954 | chr2:179421683;179421682;179421681 |
| N2AB | 27759 | 83500;83501;83502 | chr2:178556956;178556955;178556954 | chr2:179421683;179421682;179421681 |
| N2A | 26832 | 80719;80720;80721 | chr2:178556956;178556955;178556954 | chr2:179421683;179421682;179421681 |
| N2B | 20335 | 61228;61229;61230 | chr2:178556956;178556955;178556954 | chr2:179421683;179421682;179421681 |
| Novex-1 | 20460 | 61603;61604;61605 | chr2:178556956;178556955;178556954 | chr2:179421683;179421682;179421681 |
| Novex-2 | 20527 | 61804;61805;61806 | chr2:178556956;178556955;178556954 | chr2:179421683;179421682;179421681 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/F | None | None | 1.0 | D | 0.867 | 0.675 | 0.78685148864 | gnomAD-4.0.0 | 6.84218E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15942E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.9561 | likely_pathogenic | 0.9348 | pathogenic | -2.32 | Highly Destabilizing | 0.999 | D | 0.831 | deleterious | None | None | None | None | N |
| L/C | 0.9278 | likely_pathogenic | 0.8908 | pathogenic | -2.158 | Highly Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| L/D | 0.9986 | likely_pathogenic | 0.998 | pathogenic | -1.764 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| L/E | 0.993 | likely_pathogenic | 0.9906 | pathogenic | -1.685 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| L/F | 0.7696 | likely_pathogenic | 0.609 | pathogenic | -1.792 | Destabilizing | 1.0 | D | 0.867 | deleterious | D | 0.660565113 | None | None | N |
| L/G | 0.9891 | likely_pathogenic | 0.9841 | pathogenic | -2.716 | Highly Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| L/H | 0.9832 | likely_pathogenic | 0.9751 | pathogenic | -1.84 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| L/I | 0.364 | ambiguous | 0.2908 | benign | -1.249 | Destabilizing | 0.999 | D | 0.839 | deleterious | None | None | None | None | N |
| L/K | 0.9867 | likely_pathogenic | 0.9831 | pathogenic | -1.602 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| L/M | 0.4161 | ambiguous | 0.321 | benign | -1.252 | Destabilizing | 1.0 | D | 0.84 | deleterious | D | 0.617846817 | None | None | N |
| L/N | 0.9864 | likely_pathogenic | 0.983 | pathogenic | -1.624 | Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| L/P | 0.9923 | likely_pathogenic | 0.9877 | pathogenic | -1.579 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| L/Q | 0.9659 | likely_pathogenic | 0.9508 | pathogenic | -1.747 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| L/R | 0.977 | likely_pathogenic | 0.9691 | pathogenic | -1.046 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| L/S | 0.9898 | likely_pathogenic | 0.9832 | pathogenic | -2.432 | Highly Destabilizing | 1.0 | D | 0.843 | deleterious | D | 0.686910442 | None | None | N |
| L/T | 0.9657 | likely_pathogenic | 0.9487 | pathogenic | -2.212 | Highly Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| L/V | 0.4708 | ambiguous | 0.3777 | ambiguous | -1.579 | Destabilizing | 0.999 | D | 0.847 | deleterious | D | 0.61300172 | None | None | N |
| L/W | 0.9772 | likely_pathogenic | 0.953 | pathogenic | -1.818 | Destabilizing | 1.0 | D | 0.767 | deleterious | D | 0.686910442 | None | None | N |
| L/Y | 0.9765 | likely_pathogenic | 0.9594 | pathogenic | -1.596 | Destabilizing | 1.0 | D | 0.823 | 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.