Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24776 | 74551;74552;74553 | chr2:178571806;178571805;178571804 | chr2:179436533;179436532;179436531 |
| N2AB | 23135 | 69628;69629;69630 | chr2:178571806;178571805;178571804 | chr2:179436533;179436532;179436531 |
| N2A | 22208 | 66847;66848;66849 | chr2:178571806;178571805;178571804 | chr2:179436533;179436532;179436531 |
| N2B | 15711 | 47356;47357;47358 | chr2:178571806;178571805;178571804 | chr2:179436533;179436532;179436531 |
| Novex-1 | 15836 | 47731;47732;47733 | chr2:178571806;178571805;178571804 | chr2:179436533;179436532;179436531 |
| Novex-2 | 15903 | 47932;47933;47934 | chr2:178571806;178571805;178571804 | chr2:179436533;179436532;179436531 |
| 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/R | rs530190665  |
-0.093 | 0.056 | N | 0.282 | 0.08 | 0.311387274539 | gnomAD-2.1.1 | 2.42E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.78738E-04 | None | 3.27E-05 | None | 0 | 0 | 0 |
| K/R | rs530190665 |
-0.093 | 0.056 | N | 0.282 | 0.08 | 0.311387274539 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.93874E-04 | None | 0 | 0 | 0 | 0 | 0 |
| K/R | rs530190665 |
-0.093 | 0.056 | N | 0.282 | 0.08 | 0.311387274539 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
| K/R | rs530190665 |
-0.093 | 0.056 | N | 0.282 | 0.08 | 0.311387274539 | gnomAD-4.0.0 | 7.43707E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.33881E-04 | None | 0 | 0 | 0 | 4.39261E-05 | 3.20195E-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 | 0.7728 | likely_pathogenic | 0.7573 | pathogenic | -0.397 | Destabilizing | 0.845 | D | 0.479 | neutral | None | None | None | None | N |
| K/C | 0.8838 | likely_pathogenic | 0.8622 | pathogenic | -0.582 | Destabilizing | 0.999 | D | 0.691 | prob.neutral | None | None | None | None | N |
| K/D | 0.9303 | likely_pathogenic | 0.9272 | pathogenic | -0.571 | Destabilizing | 0.975 | D | 0.557 | neutral | None | None | None | None | N |
| K/E | 0.5763 | likely_pathogenic | 0.5737 | pathogenic | -0.504 | Destabilizing | 0.892 | D | 0.477 | neutral | N | 0.520090247 | None | None | N |
| K/F | 0.9642 | likely_pathogenic | 0.9591 | pathogenic | -0.345 | Destabilizing | 0.987 | D | 0.696 | prob.neutral | None | None | None | None | N |
| K/G | 0.823 | likely_pathogenic | 0.8089 | pathogenic | -0.722 | Destabilizing | 0.845 | D | 0.564 | neutral | None | None | None | None | N |
| K/H | 0.5219 | ambiguous | 0.5144 | ambiguous | -1.145 | Destabilizing | 0.999 | D | 0.597 | neutral | None | None | None | None | N |
| K/I | 0.7995 | likely_pathogenic | 0.782 | pathogenic | 0.423 | Stabilizing | 0.987 | D | 0.714 | prob.delet. | None | None | None | None | N |
| K/L | 0.7646 | likely_pathogenic | 0.7443 | pathogenic | 0.423 | Stabilizing | 0.916 | D | 0.575 | neutral | None | None | None | None | N |
| K/M | 0.6046 | likely_pathogenic | 0.58 | pathogenic | 0.456 | Stabilizing | 0.999 | D | 0.592 | neutral | N | 0.514574367 | None | None | N |
| K/N | 0.8194 | likely_pathogenic | 0.8138 | pathogenic | -0.462 | Destabilizing | 0.967 | D | 0.521 | neutral | N | 0.485732463 | None | None | N |
| K/P | 0.9526 | likely_pathogenic | 0.9472 | pathogenic | 0.18 | Stabilizing | 0.987 | D | 0.622 | neutral | None | None | None | None | N |
| K/Q | 0.3116 | likely_benign | 0.3049 | benign | -0.683 | Destabilizing | 0.967 | D | 0.541 | neutral | N | 0.482881626 | None | None | N |
| K/R | 0.0922 | likely_benign | 0.0901 | benign | -0.506 | Destabilizing | 0.056 | N | 0.282 | neutral | N | 0.484612236 | None | None | N |
| K/S | 0.7973 | likely_pathogenic | 0.7874 | pathogenic | -1.027 | Destabilizing | 0.253 | N | 0.294 | neutral | None | None | None | None | N |
| K/T | 0.4989 | ambiguous | 0.4717 | ambiguous | -0.777 | Destabilizing | 0.805 | D | 0.531 | neutral | N | 0.505430226 | None | None | N |
| K/V | 0.7503 | likely_pathogenic | 0.7335 | pathogenic | 0.18 | Stabilizing | 0.975 | D | 0.621 | neutral | None | None | None | None | N |
| K/W | 0.9164 | likely_pathogenic | 0.9053 | pathogenic | -0.249 | Destabilizing | 0.999 | D | 0.665 | neutral | None | None | None | None | N |
| K/Y | 0.9027 | likely_pathogenic | 0.8898 | pathogenic | 0.105 | Stabilizing | 0.996 | D | 0.672 | 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.