Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19687 | 59284;59285;59286 | chr2:178593060;178593059;178593058 | chr2:179457787;179457786;179457785 |
| N2AB | 18046 | 54361;54362;54363 | chr2:178593060;178593059;178593058 | chr2:179457787;179457786;179457785 |
| N2A | 17119 | 51580;51581;51582 | chr2:178593060;178593059;178593058 | chr2:179457787;179457786;179457785 |
| N2B | 10622 | 32089;32090;32091 | chr2:178593060;178593059;178593058 | chr2:179457787;179457786;179457785 |
| Novex-1 | 10747 | 32464;32465;32466 | chr2:178593060;178593059;178593058 | chr2:179457787;179457786;179457785 |
| Novex-2 | 10814 | 32665;32666;32667 | chr2:178593060;178593059;178593058 | chr2:179457787;179457786;179457785 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/L | rs1215759243  |
-0.397 | 0.135 | N | 0.531 | 0.244 | 0.319402600006 | gnomAD-2.1.1 | 6.38E-05 | None | None | None | None | N | None | 2.29621E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/L | rs1215759243 |
-0.397 | 0.135 | N | 0.531 | 0.244 | 0.319402600006 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 9.67E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/L | rs1215759243 |
-0.397 | 0.135 | N | 0.531 | 0.244 | 0.319402600006 | gnomAD-4.0.0 | 2.63238E-05 | None | None | None | None | N | None | 9.66931E-05 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.3085 | likely_benign | 0.2574 | benign | -1.899 | Destabilizing | 0.99 | D | 0.699 | prob.neutral | N | 0.492524459 | None | None | N |
| P/C | 0.7812 | likely_pathogenic | 0.7761 | pathogenic | -1.459 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | N |
| P/D | 0.9977 | likely_pathogenic | 0.9969 | pathogenic | -2.583 | Highly Destabilizing | 0.999 | D | 0.757 | deleterious | None | None | None | None | N |
| P/E | 0.9909 | likely_pathogenic | 0.9865 | pathogenic | -2.454 | Highly Destabilizing | 0.999 | D | 0.765 | deleterious | None | None | None | None | N |
| P/F | 0.953 | likely_pathogenic | 0.9461 | pathogenic | -1.198 | Destabilizing | 0.323 | N | 0.679 | prob.neutral | None | None | None | None | N |
| P/G | 0.931 | likely_pathogenic | 0.9186 | pathogenic | -2.352 | Highly Destabilizing | 0.999 | D | 0.761 | deleterious | None | None | None | None | N |
| P/H | 0.9786 | likely_pathogenic | 0.9727 | pathogenic | -2.163 | Highly Destabilizing | 1.0 | D | 0.739 | prob.delet. | D | 0.538140718 | None | None | N |
| P/I | 0.4901 | ambiguous | 0.4648 | ambiguous | -0.678 | Destabilizing | 0.991 | D | 0.783 | deleterious | None | None | None | None | N |
| P/K | 0.991 | likely_pathogenic | 0.9873 | pathogenic | -1.676 | Destabilizing | 0.999 | D | 0.758 | deleterious | None | None | None | None | N |
| P/L | 0.3595 | ambiguous | 0.301 | benign | -0.678 | Destabilizing | 0.135 | N | 0.531 | neutral | N | 0.481874923 | None | None | N |
| P/M | 0.7472 | likely_pathogenic | 0.71 | pathogenic | -0.657 | Destabilizing | 0.996 | D | 0.771 | deleterious | None | None | None | None | N |
| P/N | 0.9919 | likely_pathogenic | 0.9909 | pathogenic | -1.757 | Destabilizing | 0.999 | D | 0.748 | deleterious | None | None | None | None | N |
| P/Q | 0.9749 | likely_pathogenic | 0.9651 | pathogenic | -1.746 | Destabilizing | 0.999 | D | 0.704 | prob.neutral | None | None | None | None | N |
| P/R | 0.9769 | likely_pathogenic | 0.9689 | pathogenic | -1.361 | Destabilizing | 0.999 | D | 0.749 | deleterious | D | 0.526619829 | None | None | N |
| P/S | 0.8916 | likely_pathogenic | 0.86 | pathogenic | -2.276 | Highly Destabilizing | 0.999 | D | 0.773 | deleterious | N | 0.519782974 | None | None | N |
| P/T | 0.6048 | likely_pathogenic | 0.5443 | ambiguous | -2.03 | Highly Destabilizing | 0.997 | D | 0.771 | deleterious | D | 0.52611285 | None | None | N |
| P/V | 0.3175 | likely_benign | 0.2914 | benign | -1.055 | Destabilizing | 0.971 | D | 0.749 | deleterious | None | None | None | None | N |
| P/W | 0.9926 | likely_pathogenic | 0.9907 | pathogenic | -1.684 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | N |
| P/Y | 0.9858 | likely_pathogenic | 0.983 | pathogenic | -1.33 | Destabilizing | 0.991 | D | 0.811 | 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.