Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29864 | 89815;89816;89817 | chr2:178553310;178553309;178553308 | chr2:179418037;179418036;179418035 |
| N2AB | 28223 | 84892;84893;84894 | chr2:178553310;178553309;178553308 | chr2:179418037;179418036;179418035 |
| N2A | 27296 | 82111;82112;82113 | chr2:178553310;178553309;178553308 | chr2:179418037;179418036;179418035 |
| N2B | 20799 | 62620;62621;62622 | chr2:178553310;178553309;178553308 | chr2:179418037;179418036;179418035 |
| Novex-1 | 20924 | 62995;62996;62997 | chr2:178553310;178553309;178553308 | chr2:179418037;179418036;179418035 |
| Novex-2 | 20991 | 63196;63197;63198 | chr2:178553310;178553309;178553308 | chr2:179418037;179418036;179418035 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/E | rs770839822  |
0.372 | 0.999 | N | 0.605 | 0.406 | 0.405012372841 | gnomAD-2.1.1 | 8.21E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 1.11371E-04 | None | 0 | None | 0 | 0 | 0 |
| K/E | rs770839822 |
0.372 | 0.999 | N | 0.605 | 0.406 | 0.405012372841 | gnomAD-4.0.0 | 1.76963E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.77346E-04 | None | 0 | 0 | 0 | 0 | 3.02883E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.7005 | likely_pathogenic | 0.6583 | pathogenic | -0.11 | Destabilizing | 0.999 | D | 0.627 | neutral | None | None | None | None | I |
| K/C | 0.7969 | likely_pathogenic | 0.7704 | pathogenic | -0.723 | Destabilizing | 1.0 | D | 0.686 | prob.neutral | None | None | None | None | I |
| K/D | 0.9317 | likely_pathogenic | 0.9161 | pathogenic | -0.417 | Destabilizing | 1.0 | D | 0.659 | neutral | None | None | None | None | I |
| K/E | 0.5455 | ambiguous | 0.5029 | ambiguous | -0.426 | Destabilizing | 0.999 | D | 0.605 | neutral | N | 0.499309543 | None | None | I |
| K/F | 0.9157 | likely_pathogenic | 0.8991 | pathogenic | -0.484 | Destabilizing | 1.0 | D | 0.655 | neutral | None | None | None | None | I |
| K/G | 0.8381 | likely_pathogenic | 0.8023 | pathogenic | -0.218 | Destabilizing | 1.0 | D | 0.578 | neutral | None | None | None | None | I |
| K/H | 0.377 | ambiguous | 0.3733 | ambiguous | -0.238 | Destabilizing | 1.0 | D | 0.655 | neutral | None | None | None | None | I |
| K/I | 0.6154 | likely_pathogenic | 0.5761 | pathogenic | 0.095 | Stabilizing | 1.0 | D | 0.668 | neutral | N | 0.515300503 | None | None | I |
| K/L | 0.6722 | likely_pathogenic | 0.6408 | pathogenic | 0.095 | Stabilizing | 1.0 | D | 0.578 | neutral | None | None | None | None | I |
| K/M | 0.5121 | ambiguous | 0.4743 | ambiguous | -0.328 | Destabilizing | 1.0 | D | 0.65 | neutral | None | None | None | None | I |
| K/N | 0.8244 | likely_pathogenic | 0.7967 | pathogenic | -0.311 | Destabilizing | 1.0 | D | 0.679 | prob.neutral | N | 0.494050575 | None | None | I |
| K/P | 0.9865 | likely_pathogenic | 0.9809 | pathogenic | 0.048 | Stabilizing | 1.0 | D | 0.664 | neutral | None | None | None | None | I |
| K/Q | 0.2482 | likely_benign | 0.2346 | benign | -0.413 | Destabilizing | 1.0 | D | 0.667 | neutral | N | 0.504987508 | None | None | I |
| K/R | 0.0857 | likely_benign | 0.0828 | benign | -0.241 | Destabilizing | 0.999 | D | 0.559 | neutral | N | 0.482092006 | None | None | I |
| K/S | 0.7129 | likely_pathogenic | 0.6748 | pathogenic | -0.638 | Destabilizing | 0.999 | D | 0.629 | neutral | None | None | None | None | I |
| K/T | 0.3691 | ambiguous | 0.3318 | benign | -0.536 | Destabilizing | 1.0 | D | 0.637 | neutral | N | 0.463274172 | None | None | I |
| K/V | 0.5869 | likely_pathogenic | 0.5437 | ambiguous | 0.048 | Stabilizing | 1.0 | D | 0.622 | neutral | None | None | None | None | I |
| K/W | 0.8677 | likely_pathogenic | 0.8431 | pathogenic | -0.607 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | None | I |
| K/Y | 0.8305 | likely_pathogenic | 0.8044 | pathogenic | -0.263 | Destabilizing | 1.0 | D | 0.637 | neutral | None | None | None | None | I |
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.