Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33093 | 99502;99503;99504 | chr2:178538552;178538551;178538550 | chr2:179403279;179403278;179403277 |
| N2AB | 31452 | 94579;94580;94581 | chr2:178538552;178538551;178538550 | chr2:179403279;179403278;179403277 |
| N2A | 30525 | 91798;91799;91800 | chr2:178538552;178538551;178538550 | chr2:179403279;179403278;179403277 |
| N2B | 24028 | 72307;72308;72309 | chr2:178538552;178538551;178538550 | chr2:179403279;179403278;179403277 |
| Novex-1 | 24153 | 72682;72683;72684 | chr2:178538552;178538551;178538550 | chr2:179403279;179403278;179403277 |
| Novex-2 | 24220 | 72883;72884;72885 | chr2:178538552;178538551;178538550 | chr2:179403279;179403278;179403277 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | rs748796464  |
-2.259 | 0.997 | N | 0.508 | 0.28 | 0.329540904979 | gnomAD-2.1.1 | 1.22E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.71E-05 | 0 |
| T/A | rs748796464 |
-2.259 | 0.997 | N | 0.508 | 0.28 | 0.329540904979 | gnomAD-4.0.0 | 4.79987E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.40432E-06 | 1.16561E-05 | 0 |
| T/S | rs748796464 |
-2.338 | 0.997 | N | 0.558 | 0.235 | 0.37097340754 | gnomAD-2.1.1 | 4.09E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.04E-06 | 0 |
| T/S | rs748796464 |
-2.338 | 0.997 | N | 0.558 | 0.235 | 0.37097340754 | gnomAD-4.0.0 | 3.42848E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.26072E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.3517 | ambiguous | 0.3327 | benign | -1.119 | Destabilizing | 0.997 | D | 0.508 | neutral | N | 0.415557583 | None | None | N |
| T/C | 0.7377 | likely_pathogenic | 0.6348 | pathogenic | -1.333 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| T/D | 0.9785 | likely_pathogenic | 0.9838 | pathogenic | -2.47 | Highly Destabilizing | 0.999 | D | 0.745 | deleterious | None | None | None | None | N |
| T/E | 0.9589 | likely_pathogenic | 0.9716 | pathogenic | -2.294 | Highly Destabilizing | 0.999 | D | 0.747 | deleterious | None | None | None | None | N |
| T/F | 0.9511 | likely_pathogenic | 0.9545 | pathogenic | -0.871 | Destabilizing | 0.999 | D | 0.753 | deleterious | None | None | None | None | N |
| T/G | 0.704 | likely_pathogenic | 0.7256 | pathogenic | -1.46 | Destabilizing | 0.999 | D | 0.748 | deleterious | None | None | None | None | N |
| T/H | 0.9615 | likely_pathogenic | 0.9699 | pathogenic | -1.591 | Destabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | N |
| T/I | 0.8038 | likely_pathogenic | 0.8207 | pathogenic | -0.246 | Destabilizing | 0.999 | D | 0.795 | deleterious | N | 0.417981812 | None | None | N |
| T/K | 0.9477 | likely_pathogenic | 0.9653 | pathogenic | -0.925 | Destabilizing | 0.999 | D | 0.745 | deleterious | None | None | None | None | N |
| T/L | 0.4363 | ambiguous | 0.4579 | ambiguous | -0.246 | Destabilizing | 0.998 | D | 0.729 | deleterious | None | None | None | None | N |
| T/M | 0.3454 | ambiguous | 0.3618 | ambiguous | -0.373 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | N |
| T/N | 0.6894 | likely_pathogenic | 0.7295 | pathogenic | -1.695 | Destabilizing | 0.999 | D | 0.671 | prob.neutral | N | 0.521898401 | None | None | N |
| T/P | 0.618 | likely_pathogenic | 0.6413 | pathogenic | -0.508 | Destabilizing | 0.999 | D | 0.794 | deleterious | N | 0.473509808 | None | None | N |
| T/Q | 0.9196 | likely_pathogenic | 0.9423 | pathogenic | -1.551 | Destabilizing | 0.999 | D | 0.792 | deleterious | None | None | None | None | N |
| T/R | 0.9238 | likely_pathogenic | 0.9493 | pathogenic | -0.983 | Destabilizing | 0.999 | D | 0.793 | deleterious | None | None | None | None | N |
| T/S | 0.5037 | ambiguous | 0.547 | ambiguous | -1.711 | Destabilizing | 0.997 | D | 0.558 | neutral | N | 0.521031609 | None | None | N |
| T/V | 0.5611 | ambiguous | 0.5742 | pathogenic | -0.508 | Destabilizing | 0.998 | D | 0.591 | neutral | None | None | None | None | N |
| T/W | 0.9922 | likely_pathogenic | 0.9942 | pathogenic | -1.141 | Destabilizing | 1.0 | D | 0.689 | prob.delet. | None | None | None | None | N |
| T/Y | 0.9665 | likely_pathogenic | 0.9739 | pathogenic | -0.726 | Destabilizing | 1.0 | D | 0.787 | 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.