Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33410 | 100453;100454;100455 | chr2:178536519;178536518;178536517 | chr2:179401246;179401245;179401244 |
| N2AB | 31769 | 95530;95531;95532 | chr2:178536519;178536518;178536517 | chr2:179401246;179401245;179401244 |
| N2A | 30842 | 92749;92750;92751 | chr2:178536519;178536518;178536517 | chr2:179401246;179401245;179401244 |
| N2B | 24345 | 73258;73259;73260 | chr2:178536519;178536518;178536517 | chr2:179401246;179401245;179401244 |
| Novex-1 | 24470 | 73633;73634;73635 | chr2:178536519;178536518;178536517 | chr2:179401246;179401245;179401244 |
| Novex-2 | 24537 | 73834;73835;73836 | chr2:178536519;178536518;178536517 | chr2:179401246;179401245;179401244 |
| 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 | None | None | 0.999 | N | 0.643 | 0.356 | 0.607509035438 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| V/I | rs1691577355  |
None | 0.997 | N | 0.55 | 0.239 | 0.59498951386 | gnomAD-4.0.0 | 1.81666E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.17154E-06 | 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 | 0.3283 | likely_benign | 0.4781 | ambiguous | -1.405 | Destabilizing | 0.999 | D | 0.643 | neutral | N | 0.475037456 | None | None | N |
| V/C | 0.861 | likely_pathogenic | 0.8906 | pathogenic | -1.088 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| V/D | 0.663 | likely_pathogenic | 0.8453 | pathogenic | -1.191 | Destabilizing | 1.0 | D | 0.82 | deleterious | N | 0.490641626 | None | None | N |
| V/E | 0.5099 | ambiguous | 0.7334 | pathogenic | -1.203 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| V/F | 0.2508 | likely_benign | 0.4046 | ambiguous | -1.165 | Destabilizing | 1.0 | D | 0.772 | deleterious | D | 0.522503329 | None | None | N |
| V/G | 0.5353 | ambiguous | 0.7016 | pathogenic | -1.7 | Destabilizing | 1.0 | D | 0.788 | deleterious | N | 0.473890453 | None | None | N |
| V/H | 0.7479 | likely_pathogenic | 0.8783 | pathogenic | -1.209 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| V/I | 0.0844 | likely_benign | 0.0865 | benign | -0.704 | Destabilizing | 0.997 | D | 0.55 | neutral | N | 0.481944785 | None | None | N |
| V/K | 0.5871 | likely_pathogenic | 0.7998 | pathogenic | -1.055 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| V/L | 0.2635 | likely_benign | 0.3555 | ambiguous | -0.704 | Destabilizing | 0.997 | D | 0.617 | neutral | N | 0.450813802 | None | None | N |
| V/M | 0.1841 | likely_benign | 0.2532 | benign | -0.601 | Destabilizing | 1.0 | D | 0.683 | prob.neutral | None | None | None | None | N |
| V/N | 0.5071 | ambiguous | 0.6836 | pathogenic | -0.872 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| V/P | 0.9712 | likely_pathogenic | 0.987 | pathogenic | -0.903 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| V/Q | 0.5138 | ambiguous | 0.7129 | pathogenic | -1.077 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| V/R | 0.4874 | ambiguous | 0.7353 | pathogenic | -0.561 | Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| V/S | 0.3744 | ambiguous | 0.549 | ambiguous | -1.419 | Destabilizing | 1.0 | D | 0.746 | deleterious | None | None | None | None | N |
| V/T | 0.2106 | likely_benign | 0.3051 | benign | -1.324 | Destabilizing | 0.999 | D | 0.653 | neutral | None | None | None | None | N |
| V/W | 0.9085 | likely_pathogenic | 0.9552 | pathogenic | -1.309 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| V/Y | 0.7181 | likely_pathogenic | 0.841 | pathogenic | -1.005 | Destabilizing | 1.0 | D | 0.782 | 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.