Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25593 | 77002;77003;77004 | chr2:178569355;178569354;178569353 | chr2:179434082;179434081;179434080 |
| N2AB | 23952 | 72079;72080;72081 | chr2:178569355;178569354;178569353 | chr2:179434082;179434081;179434080 |
| N2A | 23025 | 69298;69299;69300 | chr2:178569355;178569354;178569353 | chr2:179434082;179434081;179434080 |
| N2B | 16528 | 49807;49808;49809 | chr2:178569355;178569354;178569353 | chr2:179434082;179434081;179434080 |
| Novex-1 | 16653 | 50182;50183;50184 | chr2:178569355;178569354;178569353 | chr2:179434082;179434081;179434080 |
| Novex-2 | 16720 | 50383;50384;50385 | chr2:178569355;178569354;178569353 | chr2:179434082;179434081;179434080 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/Y | rs547186080  |
0.124 | 0.941 | N | 0.595 | 0.269 | 0.521438907708 | gnomAD-2.1.1 | 7.15E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 7.84E-06 | 1.40687E-04 |
| F/Y | rs547186080 |
0.124 | 0.941 | N | 0.595 | 0.269 | 0.521438907708 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| F/Y | rs547186080 |
0.124 | 0.941 | N | 0.595 | 0.269 | 0.521438907708 | gnomAD-4.0.0 | 8.0579E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.01732E-05 | 0 | 1.60143E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.5373 | ambiguous | 0.6065 | pathogenic | -1.054 | Destabilizing | 0.415 | N | 0.666 | neutral | None | None | None | None | N |
| F/C | 0.4539 | ambiguous | 0.5069 | ambiguous | -0.411 | Destabilizing | 0.995 | D | 0.75 | deleterious | N | 0.497378257 | None | None | N |
| F/D | 0.8944 | likely_pathogenic | 0.9114 | pathogenic | 0.66 | Stabilizing | 0.923 | D | 0.732 | prob.delet. | None | None | None | None | N |
| F/E | 0.919 | likely_pathogenic | 0.933 | pathogenic | 0.644 | Stabilizing | 0.923 | D | 0.727 | prob.delet. | None | None | None | None | N |
| F/G | 0.84 | likely_pathogenic | 0.8705 | pathogenic | -1.261 | Destabilizing | 0.633 | D | 0.715 | prob.delet. | None | None | None | None | N |
| F/H | 0.6596 | likely_pathogenic | 0.7016 | pathogenic | 0.167 | Stabilizing | 0.989 | D | 0.699 | prob.neutral | None | None | None | None | N |
| F/I | 0.3186 | likely_benign | 0.3537 | ambiguous | -0.516 | Destabilizing | 0.722 | D | 0.62 | neutral | D | 0.523533197 | None | None | N |
| F/K | 0.9356 | likely_pathogenic | 0.9478 | pathogenic | -0.192 | Destabilizing | 0.858 | D | 0.731 | prob.delet. | None | None | None | None | N |
| F/L | 0.9051 | likely_pathogenic | 0.9152 | pathogenic | -0.516 | Destabilizing | 0.349 | N | 0.564 | neutral | N | 0.50862246 | None | None | N |
| F/M | 0.5332 | ambiguous | 0.5685 | pathogenic | -0.428 | Destabilizing | 0.987 | D | 0.623 | neutral | None | None | None | None | N |
| F/N | 0.6284 | likely_pathogenic | 0.6679 | pathogenic | -0.141 | Destabilizing | 0.858 | D | 0.732 | prob.delet. | None | None | None | None | N |
| F/P | 0.9835 | likely_pathogenic | 0.9853 | pathogenic | -0.676 | Destabilizing | 0.961 | D | 0.76 | deleterious | None | None | None | None | N |
| F/Q | 0.8494 | likely_pathogenic | 0.8789 | pathogenic | -0.208 | Destabilizing | 0.923 | D | 0.76 | deleterious | None | None | None | None | N |
| F/R | 0.8804 | likely_pathogenic | 0.9045 | pathogenic | 0.301 | Stabilizing | 0.923 | D | 0.762 | deleterious | None | None | None | None | N |
| F/S | 0.3359 | likely_benign | 0.4007 | ambiguous | -0.843 | Destabilizing | 0.034 | N | 0.491 | neutral | N | 0.442184037 | None | None | N |
| F/T | 0.3457 | ambiguous | 0.3857 | ambiguous | -0.765 | Destabilizing | 0.011 | N | 0.489 | neutral | None | None | None | None | N |
| F/V | 0.2556 | likely_benign | 0.2829 | benign | -0.676 | Destabilizing | 0.565 | D | 0.653 | neutral | N | 0.506563589 | None | None | N |
| F/W | 0.6696 | likely_pathogenic | 0.7095 | pathogenic | -0.247 | Destabilizing | 0.996 | D | 0.631 | neutral | None | None | None | None | N |
| F/Y | 0.2345 | likely_benign | 0.2495 | benign | -0.257 | Destabilizing | 0.941 | D | 0.595 | neutral | N | 0.482147611 | 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.