Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14637 | 44134;44135;44136 | chr2:178631139;178631138;178631137 | chr2:179495866;179495865;179495864 |
| N2AB | 12996 | 39211;39212;39213 | chr2:178631139;178631138;178631137 | chr2:179495866;179495865;179495864 |
| N2A | 12069 | 36430;36431;36432 | chr2:178631139;178631138;178631137 | chr2:179495866;179495865;179495864 |
| N2B | 5572 | 16939;16940;16941 | chr2:178631139;178631138;178631137 | chr2:179495866;179495865;179495864 |
| Novex-1 | 5697 | 17314;17315;17316 | chr2:178631139;178631138;178631137 | chr2:179495866;179495865;179495864 |
| Novex-2 | 5764 | 17515;17516;17517 | chr2:178631139;178631138;178631137 | chr2:179495866;179495865;179495864 |
| 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 | None | None | 1.0 | D | 0.679 | 0.538 | 0.231873229951 | gnomAD-4.0.0 | 1.59232E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85961E-06 | 0 | 0 |
| G/V | None | None | 1.0 | D | 0.702 | 0.551 | 0.731714717012 | gnomAD-4.0.0 | 1.59231E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85958E-06 | 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 | 0.4896 | ambiguous | 0.4707 | ambiguous | -0.377 | Destabilizing | 1.0 | D | 0.564 | neutral | D | 0.583867458 | None | None | N |
| G/C | 0.6147 | likely_pathogenic | 0.6382 | pathogenic | -0.882 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | D | 0.741004882 | None | None | N |
| G/D | 0.4074 | ambiguous | 0.3878 | ambiguous | -0.825 | Destabilizing | 1.0 | D | 0.657 | neutral | N | 0.496736199 | None | None | N |
| G/E | 0.4467 | ambiguous | 0.4608 | ambiguous | -0.992 | Destabilizing | 1.0 | D | 0.681 | prob.neutral | None | None | None | None | N |
| G/F | 0.9158 | likely_pathogenic | 0.9133 | pathogenic | -1.089 | Destabilizing | 1.0 | D | 0.685 | prob.neutral | None | None | None | None | N |
| G/H | 0.7325 | likely_pathogenic | 0.7211 | pathogenic | -0.603 | Destabilizing | 1.0 | D | 0.677 | prob.neutral | None | None | None | None | N |
| G/I | 0.8098 | likely_pathogenic | 0.8294 | pathogenic | -0.499 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | None | None | None | None | N |
| G/K | 0.605 | likely_pathogenic | 0.6115 | pathogenic | -0.955 | Destabilizing | 1.0 | D | 0.683 | prob.neutral | None | None | None | None | N |
| G/L | 0.8739 | likely_pathogenic | 0.8601 | pathogenic | -0.499 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | N |
| G/M | 0.8819 | likely_pathogenic | 0.8858 | pathogenic | -0.454 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | None | None | None | None | N |
| G/N | 0.5369 | ambiguous | 0.4957 | ambiguous | -0.565 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | None | None | None | None | N |
| G/P | 0.9762 | likely_pathogenic | 0.9781 | pathogenic | -0.424 | Destabilizing | 1.0 | D | 0.686 | prob.neutral | None | None | None | None | N |
| G/Q | 0.59 | likely_pathogenic | 0.5861 | pathogenic | -0.894 | Destabilizing | 1.0 | D | 0.696 | prob.neutral | None | None | None | None | N |
| G/R | 0.4488 | ambiguous | 0.4592 | ambiguous | -0.431 | Destabilizing | 1.0 | D | 0.681 | prob.neutral | D | 0.619432718 | None | None | N |
| G/S | 0.2311 | likely_benign | 0.2179 | benign | -0.691 | Destabilizing | 1.0 | D | 0.679 | prob.neutral | D | 0.585746162 | None | None | N |
| G/T | 0.6159 | likely_pathogenic | 0.6363 | pathogenic | -0.797 | Destabilizing | 1.0 | D | 0.677 | prob.neutral | None | None | None | None | N |
| G/V | 0.708 | likely_pathogenic | 0.7301 | pathogenic | -0.424 | Destabilizing | 1.0 | D | 0.702 | prob.neutral | D | 0.646508229 | None | None | N |
| G/W | 0.747 | likely_pathogenic | 0.7825 | pathogenic | -1.231 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | None | None | None | None | N |
| G/Y | 0.8165 | likely_pathogenic | 0.8157 | pathogenic | -0.896 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | 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.