Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19066 | 57421;57422;57423 | chr2:178597974;178597973;178597972 | chr2:179462701;179462700;179462699 |
| N2AB | 17425 | 52498;52499;52500 | chr2:178597974;178597973;178597972 | chr2:179462701;179462700;179462699 |
| N2A | 16498 | 49717;49718;49719 | chr2:178597974;178597973;178597972 | chr2:179462701;179462700;179462699 |
| N2B | 10001 | 30226;30227;30228 | chr2:178597974;178597973;178597972 | chr2:179462701;179462700;179462699 |
| Novex-1 | 10126 | 30601;30602;30603 | chr2:178597974;178597973;178597972 | chr2:179462701;179462700;179462699 |
| Novex-2 | 10193 | 30802;30803;30804 | chr2:178597974;178597973;178597972 | chr2:179462701;179462700;179462699 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs537440385  |
-2.023 | 0.334 | N | 0.453 | 0.316 | 0.546908861191 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/A | rs537440385 |
-2.023 | 0.334 | N | 0.453 | 0.316 | 0.546908861191 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 0 | 2.6202E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/A | rs537440385 |
-2.023 | 0.334 | N | 0.453 | 0.316 | 0.546908861191 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 1.4E-03 | None | None | 0 | 0 | None | None | None | 0 | None |
| V/A | rs537440385 |
-2.023 | 0.334 | N | 0.453 | 0.316 | 0.546908861191 | gnomAD-4.0.0 | 5.57823E-06 | None | None | None | None | N | None | 0 | 1.33387E-04 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.60082E-05 |
| V/I | rs1308704992 |
-0.566 | 0.002 | N | 0.214 | 0.094 | 0.437100570223 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/I | rs1308704992 |
-0.566 | 0.002 | N | 0.214 | 0.094 | 0.437100570223 | gnomAD-4.0.0 | 1.59209E-06 | None | None | None | None | N | None | 0 | 2.28791E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.2891 | likely_benign | 0.3242 | benign | -2.006 | Highly Destabilizing | 0.334 | N | 0.453 | neutral | N | 0.475948504 | None | None | N |
| V/C | 0.6738 | likely_pathogenic | 0.6746 | pathogenic | -1.837 | Destabilizing | 0.982 | D | 0.776 | deleterious | None | None | None | None | N |
| V/D | 0.7768 | likely_pathogenic | 0.8287 | pathogenic | -2.513 | Highly Destabilizing | 0.781 | D | 0.827 | deleterious | N | 0.507930733 | None | None | N |
| V/E | 0.4745 | ambiguous | 0.5524 | ambiguous | -2.394 | Highly Destabilizing | 0.826 | D | 0.773 | deleterious | None | None | None | None | N |
| V/F | 0.194 | likely_benign | 0.2313 | benign | -1.372 | Destabilizing | 0.638 | D | 0.778 | deleterious | N | 0.51044872 | None | None | N |
| V/G | 0.4501 | ambiguous | 0.4849 | ambiguous | -2.426 | Highly Destabilizing | 0.781 | D | 0.788 | deleterious | N | 0.516071034 | None | None | N |
| V/H | 0.6865 | likely_pathogenic | 0.745 | pathogenic | -1.934 | Destabilizing | 0.982 | D | 0.823 | deleterious | None | None | None | None | N |
| V/I | 0.0706 | likely_benign | 0.0736 | benign | -0.88 | Destabilizing | 0.002 | N | 0.214 | neutral | N | 0.509790322 | None | None | N |
| V/K | 0.4331 | ambiguous | 0.4769 | ambiguous | -1.573 | Destabilizing | 0.826 | D | 0.783 | deleterious | None | None | None | None | N |
| V/L | 0.1875 | likely_benign | 0.2203 | benign | -0.88 | Destabilizing | 0.034 | N | 0.377 | neutral | D | 0.524103626 | None | None | N |
| V/M | 0.1275 | likely_benign | 0.1486 | benign | -1.014 | Destabilizing | 0.7 | D | 0.677 | prob.neutral | None | None | None | None | N |
| V/N | 0.5263 | ambiguous | 0.6092 | pathogenic | -1.718 | Destabilizing | 0.935 | D | 0.829 | deleterious | None | None | None | None | N |
| V/P | 0.9869 | likely_pathogenic | 0.986 | pathogenic | -1.226 | Destabilizing | 0.935 | D | 0.814 | deleterious | None | None | None | None | N |
| V/Q | 0.4037 | ambiguous | 0.4712 | ambiguous | -1.765 | Destabilizing | 0.935 | D | 0.813 | deleterious | None | None | None | None | N |
| V/R | 0.4218 | ambiguous | 0.4462 | ambiguous | -1.196 | Destabilizing | 0.826 | D | 0.831 | deleterious | None | None | None | None | N |
| V/S | 0.3874 | ambiguous | 0.4521 | ambiguous | -2.313 | Highly Destabilizing | 0.826 | D | 0.761 | deleterious | None | None | None | None | N |
| V/T | 0.2517 | likely_benign | 0.3094 | benign | -2.073 | Highly Destabilizing | 0.399 | N | 0.539 | neutral | None | None | None | None | N |
| V/W | 0.8519 | likely_pathogenic | 0.8765 | pathogenic | -1.697 | Destabilizing | 0.982 | D | 0.801 | deleterious | None | None | None | None | N |
| V/Y | 0.6082 | likely_pathogenic | 0.6495 | pathogenic | -1.375 | Destabilizing | 0.826 | D | 0.797 | deleterious | 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.