Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18464 | 55615;55616;55617 | chr2:178601700;178601699;178601698 | chr2:179466427;179466426;179466425 |
| N2AB | 16823 | 50692;50693;50694 | chr2:178601700;178601699;178601698 | chr2:179466427;179466426;179466425 |
| N2A | 15896 | 47911;47912;47913 | chr2:178601700;178601699;178601698 | chr2:179466427;179466426;179466425 |
| N2B | 9399 | 28420;28421;28422 | chr2:178601700;178601699;178601698 | chr2:179466427;179466426;179466425 |
| Novex-1 | 9524 | 28795;28796;28797 | chr2:178601700;178601699;178601698 | chr2:179466427;179466426;179466425 |
| Novex-2 | 9591 | 28996;28997;28998 | chr2:178601700;178601699;178601698 | chr2:179466427;179466426;179466425 |
| 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/Q | rs565100137  |
-0.012 | 1.0 | N | 0.655 | 0.336 | 0.363158594168 | gnomAD-2.1.1 | 3.28E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 2.74104E-04 | None | 0 | 0 | 0 |
| K/Q | rs565100137 |
-0.012 | 1.0 | N | 0.655 | 0.336 | 0.363158594168 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 6.20604E-04 | 0 |
| K/Q | rs565100137 |
-0.012 | 1.0 | N | 0.655 | 0.336 | 0.363158594168 | 1000 genomes | 1.99681E-04 | None | None | None | None | I | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| K/Q | rs565100137 |
-0.012 | 1.0 | N | 0.655 | 0.336 | 0.363158594168 | gnomAD-4.0.0 | 2.85925E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.27296E-05 | 3.34919E-04 | 1.60699E-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 | 0.3455 | ambiguous | 0.3014 | benign | 0.042 | Stabilizing | 0.999 | D | 0.574 | neutral | None | None | None | None | I |
| K/C | 0.7834 | likely_pathogenic | 0.7685 | pathogenic | -0.341 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | I |
| K/D | 0.5918 | likely_pathogenic | 0.5612 | ambiguous | -0.236 | Destabilizing | 1.0 | D | 0.631 | neutral | None | None | None | None | I |
| K/E | 0.2644 | likely_benign | 0.2172 | benign | -0.252 | Destabilizing | 0.999 | D | 0.555 | neutral | N | 0.451190309 | None | None | I |
| K/F | 0.8254 | likely_pathogenic | 0.8304 | pathogenic | -0.307 | Destabilizing | 1.0 | D | 0.72 | prob.delet. | None | None | None | None | I |
| K/G | 0.5106 | ambiguous | 0.4879 | ambiguous | -0.089 | Destabilizing | 1.0 | D | 0.592 | neutral | None | None | None | None | I |
| K/H | 0.4259 | ambiguous | 0.3989 | ambiguous | -0.254 | Destabilizing | 1.0 | D | 0.648 | neutral | None | None | None | None | I |
| K/I | 0.3507 | ambiguous | 0.3274 | benign | 0.303 | Stabilizing | 1.0 | D | 0.723 | prob.delet. | N | 0.484113591 | None | None | I |
| K/L | 0.4096 | ambiguous | 0.3849 | ambiguous | 0.303 | Stabilizing | 1.0 | D | 0.592 | neutral | None | None | None | None | I |
| K/M | 0.2812 | likely_benign | 0.265 | benign | 0.005 | Stabilizing | 1.0 | D | 0.647 | neutral | None | None | None | None | I |
| K/N | 0.4929 | ambiguous | 0.454 | ambiguous | 0.108 | Stabilizing | 1.0 | D | 0.663 | neutral | N | 0.50837453 | None | None | I |
| K/P | 0.5358 | ambiguous | 0.4978 | ambiguous | 0.24 | Stabilizing | 1.0 | D | 0.623 | neutral | None | None | None | None | I |
| K/Q | 0.2038 | likely_benign | 0.1751 | benign | -0.048 | Destabilizing | 1.0 | D | 0.655 | neutral | N | 0.4968881 | None | None | I |
| K/R | 0.0993 | likely_benign | 0.0928 | benign | -0.073 | Destabilizing | 0.999 | D | 0.507 | neutral | N | 0.507854455 | None | None | I |
| K/S | 0.434 | ambiguous | 0.3973 | ambiguous | -0.263 | Destabilizing | 0.999 | D | 0.585 | neutral | None | None | None | None | I |
| K/T | 0.1943 | likely_benign | 0.1755 | benign | -0.16 | Destabilizing | 1.0 | D | 0.607 | neutral | N | 0.467527985 | None | None | I |
| K/V | 0.3199 | likely_benign | 0.3028 | benign | 0.24 | Stabilizing | 1.0 | D | 0.663 | neutral | None | None | None | None | I |
| K/W | 0.8463 | likely_pathogenic | 0.8452 | pathogenic | -0.405 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | I |
| K/Y | 0.7164 | likely_pathogenic | 0.7156 | pathogenic | -0.044 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | None | None | None | None | I |
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.