Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15161 | 45706;45707;45708 | chr2:178621237;178621236;178621235 | chr2:179485964;179485963;179485962 |
| N2AB | 13520 | 40783;40784;40785 | chr2:178621237;178621236;178621235 | chr2:179485964;179485963;179485962 |
| N2A | 12593 | 38002;38003;38004 | chr2:178621237;178621236;178621235 | chr2:179485964;179485963;179485962 |
| N2B | 6096 | 18511;18512;18513 | chr2:178621237;178621236;178621235 | chr2:179485964;179485963;179485962 |
| Novex-1 | 6221 | 18886;18887;18888 | chr2:178621237;178621236;178621235 | chr2:179485964;179485963;179485962 |
| Novex-2 | 6288 | 19087;19088;19089 | chr2:178621237;178621236;178621235 | chr2:179485964;179485963;179485962 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/C | rs1469799928  |
None | 0.612 | D | 0.373 | 0.456 | 0.459100921832 | gnomAD-4.0.0 | 1.36956E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79985E-06 | 0 | 0 |
| S/P | rs1191629167 |
0.025 | None | N | 0.141 | 0.156 | 0.132336055621 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.94E-06 | 0 |
| S/P | rs1191629167 |
0.025 | None | N | 0.141 | 0.156 | 0.132336055621 | gnomAD-4.0.0 | 1.59427E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86266E-06 | 0 | 0 |
| S/Y | rs1469799928 |
-0.769 | 0.295 | D | 0.407 | 0.417 | 0.524741657026 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| S/Y | rs1469799928 |
-0.769 | 0.295 | D | 0.407 | 0.417 | 0.524741657026 | gnomAD-4.0.0 | 6.8478E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15999E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0581 | likely_benign | 0.0617 | benign | -0.327 | Destabilizing | None | N | 0.113 | neutral | N | 0.498058174 | None | None | N |
| S/C | 0.1835 | likely_benign | 0.1525 | benign | -0.29 | Destabilizing | 0.612 | D | 0.373 | neutral | D | 0.662081894 | None | None | N |
| S/D | 0.3361 | likely_benign | 0.3221 | benign | 0.136 | Stabilizing | None | N | 0.115 | neutral | None | None | None | None | N |
| S/E | 0.3661 | ambiguous | 0.3626 | ambiguous | 0.031 | Stabilizing | 0.001 | N | 0.115 | neutral | None | None | None | None | N |
| S/F | 0.2566 | likely_benign | 0.2632 | benign | -1.003 | Destabilizing | 0.295 | N | 0.407 | neutral | N | 0.521548512 | None | None | N |
| S/G | 0.0883 | likely_benign | 0.0846 | benign | -0.406 | Destabilizing | 0.016 | N | 0.231 | neutral | None | None | None | None | N |
| S/H | 0.3692 | ambiguous | 0.3533 | ambiguous | -0.902 | Destabilizing | 0.628 | D | 0.375 | neutral | None | None | None | None | N |
| S/I | 0.1389 | likely_benign | 0.1586 | benign | -0.252 | Destabilizing | 0.214 | N | 0.425 | neutral | None | None | None | None | N |
| S/K | 0.4612 | ambiguous | 0.438 | ambiguous | -0.398 | Destabilizing | 0.072 | N | 0.197 | neutral | None | None | None | None | N |
| S/L | 0.0999 | likely_benign | 0.1059 | benign | -0.252 | Destabilizing | 0.038 | N | 0.377 | neutral | None | None | None | None | N |
| S/M | 0.1822 | likely_benign | 0.1911 | benign | -0.021 | Destabilizing | 0.356 | N | 0.374 | neutral | None | None | None | None | N |
| S/N | 0.1118 | likely_benign | 0.1205 | benign | -0.133 | Destabilizing | 0.072 | N | 0.22 | neutral | None | None | None | None | N |
| S/P | 0.0868 | likely_benign | 0.0835 | benign | -0.25 | Destabilizing | None | N | 0.141 | neutral | N | 0.477993242 | None | None | N |
| S/Q | 0.3933 | ambiguous | 0.386 | ambiguous | -0.397 | Destabilizing | 0.072 | N | 0.297 | neutral | None | None | None | None | N |
| S/R | 0.4413 | ambiguous | 0.419 | ambiguous | -0.189 | Destabilizing | 0.214 | N | 0.425 | neutral | None | None | None | None | N |
| S/T | 0.0732 | likely_benign | 0.0781 | benign | -0.249 | Destabilizing | 0.012 | N | 0.243 | neutral | N | 0.502329142 | None | None | N |
| S/V | 0.143 | likely_benign | 0.1596 | benign | -0.25 | Destabilizing | 0.038 | N | 0.373 | neutral | None | None | None | None | N |
| S/W | 0.4545 | ambiguous | 0.4005 | ambiguous | -1.02 | Destabilizing | 0.864 | D | 0.464 | neutral | None | None | None | None | N |
| S/Y | 0.2289 | likely_benign | 0.2185 | benign | -0.727 | Destabilizing | 0.295 | N | 0.407 | neutral | D | 0.661542541 | 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.