Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28626 | 86101;86102;86103 | chr2:178560256;178560255;178560254 | chr2:179424983;179424982;179424981 |
| N2AB | 26985 | 81178;81179;81180 | chr2:178560256;178560255;178560254 | chr2:179424983;179424982;179424981 |
| N2A | 26058 | 78397;78398;78399 | chr2:178560256;178560255;178560254 | chr2:179424983;179424982;179424981 |
| N2B | 19561 | 58906;58907;58908 | chr2:178560256;178560255;178560254 | chr2:179424983;179424982;179424981 |
| Novex-1 | 19686 | 59281;59282;59283 | chr2:178560256;178560255;178560254 | chr2:179424983;179424982;179424981 |
| Novex-2 | 19753 | 59482;59483;59484 | chr2:178560256;178560255;178560254 | chr2:179424983;179424982;179424981 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/F | None | None | None | N | 0.237 | 0.106 | 0.143124449307 | 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 |
| Y/H | rs1477861188  |
-2.102 | 0.741 | N | 0.689 | 0.227 | 0.370240404367 | 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 |
| Y/H | rs1477861188 |
-2.102 | 0.741 | N | 0.689 | 0.227 | 0.370240404367 | gnomAD-4.0.0 | 1.59119E-06 | None | None | None | None | N | None | 0 | 2.28624E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.333 | likely_benign | 0.3705 | ambiguous | -3.343 | Highly Destabilizing | 0.002 | N | 0.492 | neutral | None | None | None | None | N |
| Y/C | 0.0962 | likely_benign | 0.1015 | benign | -1.757 | Destabilizing | 0.915 | D | 0.67 | neutral | N | 0.46237759 | None | None | N |
| Y/D | 0.5286 | ambiguous | 0.5488 | ambiguous | -3.095 | Highly Destabilizing | 0.484 | N | 0.693 | prob.neutral | N | 0.473584057 | None | None | N |
| Y/E | 0.727 | likely_pathogenic | 0.7398 | pathogenic | -2.95 | Highly Destabilizing | 0.555 | D | 0.663 | neutral | None | None | None | None | N |
| Y/F | 0.0556 | likely_benign | 0.0594 | benign | -1.317 | Destabilizing | None | N | 0.237 | neutral | N | 0.372430376 | None | None | N |
| Y/G | 0.4406 | ambiguous | 0.4729 | ambiguous | -3.704 | Highly Destabilizing | 0.149 | N | 0.667 | neutral | None | None | None | None | N |
| Y/H | 0.1653 | likely_benign | 0.1626 | benign | -2.03 | Highly Destabilizing | 0.741 | D | 0.689 | prob.neutral | N | 0.473584057 | None | None | N |
| Y/I | 0.2956 | likely_benign | 0.3519 | ambiguous | -2.159 | Highly Destabilizing | 0.081 | N | 0.655 | neutral | None | None | None | None | N |
| Y/K | 0.6114 | likely_pathogenic | 0.6267 | pathogenic | -2.13 | Highly Destabilizing | 0.555 | D | 0.667 | neutral | None | None | None | None | N |
| Y/L | 0.2853 | likely_benign | 0.3152 | benign | -2.159 | Highly Destabilizing | 0.035 | N | 0.664 | neutral | None | None | None | None | N |
| Y/M | 0.3325 | likely_benign | 0.3704 | ambiguous | -1.771 | Destabilizing | 0.555 | D | 0.681 | prob.neutral | None | None | None | None | N |
| Y/N | 0.2405 | likely_benign | 0.2606 | benign | -2.629 | Highly Destabilizing | 0.741 | D | 0.658 | neutral | N | 0.508283238 | None | None | N |
| Y/P | 0.9794 | likely_pathogenic | 0.9832 | pathogenic | -2.564 | Highly Destabilizing | 0.555 | D | 0.698 | prob.neutral | None | None | None | None | N |
| Y/Q | 0.4527 | ambiguous | 0.4617 | ambiguous | -2.542 | Highly Destabilizing | 0.791 | D | 0.685 | prob.neutral | None | None | None | None | N |
| Y/R | 0.4523 | ambiguous | 0.4629 | ambiguous | -1.593 | Destabilizing | 0.555 | D | 0.66 | neutral | None | None | None | None | N |
| Y/S | 0.1401 | likely_benign | 0.1518 | benign | -3.044 | Highly Destabilizing | 0.062 | N | 0.643 | neutral | N | 0.377470836 | None | None | N |
| Y/T | 0.2593 | likely_benign | 0.293 | benign | -2.803 | Highly Destabilizing | 0.149 | N | 0.654 | neutral | None | None | None | None | N |
| Y/V | 0.2576 | likely_benign | 0.2867 | benign | -2.564 | Highly Destabilizing | 0.081 | N | 0.675 | neutral | None | None | None | None | N |
| Y/W | 0.3495 | ambiguous | 0.36 | ambiguous | -0.664 | Destabilizing | 0.555 | D | 0.68 | prob.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.