Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16024 | 48295;48296;48297 | chr2:178616819;178616818;178616817 | chr2:179481546;179481545;179481544 |
| N2AB | 14383 | 43372;43373;43374 | chr2:178616819;178616818;178616817 | chr2:179481546;179481545;179481544 |
| N2A | 13456 | 40591;40592;40593 | chr2:178616819;178616818;178616817 | chr2:179481546;179481545;179481544 |
| N2B | 6959 | 21100;21101;21102 | chr2:178616819;178616818;178616817 | chr2:179481546;179481545;179481544 |
| Novex-1 | 7084 | 21475;21476;21477 | chr2:178616819;178616818;178616817 | chr2:179481546;179481545;179481544 |
| Novex-2 | 7151 | 21676;21677;21678 | chr2:178616819;178616818;178616817 | chr2:179481546;179481545;179481544 |
| 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/A | rs750357667  |
-0.539 | 1.0 | N | 0.689 | 0.307 | 0.184867976434 | gnomAD-2.1.1 | 8.08E-06 | None | None | None | None | N | None | 1.29383E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/A | rs750357667 |
-0.539 | 1.0 | N | 0.689 | 0.307 | 0.184867976434 | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 1.20825E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/A | rs750357667 |
-0.539 | 1.0 | N | 0.689 | 0.307 | 0.184867976434 | gnomAD-4.0.0 | 5.58132E-06 | None | None | None | None | N | None | 1.06983E-04 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.60267E-05 |
| P/L | None | None | 1.0 | N | 0.773 | 0.464 | 0.584336440749 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.07533E-05 | 0 |
| P/S | rs750357667 |
-0.337 | 1.0 | N | 0.751 | 0.332 | 0.154104182512 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.95E-06 | 0 |
| P/S | rs750357667 |
-0.337 | 1.0 | N | 0.751 | 0.332 | 0.154104182512 | gnomAD-4.0.0 | 2.73843E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59944E-05 | 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 | 0.2571 | likely_benign | 0.2582 | benign | -0.884 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | N | 0.459533773 | None | None | N |
| P/C | 0.7435 | likely_pathogenic | 0.7662 | pathogenic | -0.73 | Destabilizing | 1.0 | D | 0.76 | deleterious | None | None | None | None | N |
| P/D | 0.597 | likely_pathogenic | 0.6202 | pathogenic | -0.661 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| P/E | 0.4629 | ambiguous | 0.4789 | ambiguous | -0.764 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| P/F | 0.8201 | likely_pathogenic | 0.8398 | pathogenic | -1.006 | Destabilizing | 1.0 | D | 0.74 | deleterious | None | None | None | None | N |
| P/G | 0.5099 | ambiguous | 0.533 | ambiguous | -1.058 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| P/H | 0.4127 | ambiguous | 0.4206 | ambiguous | -0.567 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| P/I | 0.7192 | likely_pathogenic | 0.7441 | pathogenic | -0.56 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| P/K | 0.4934 | ambiguous | 0.5173 | ambiguous | -0.65 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| P/L | 0.4305 | ambiguous | 0.4394 | ambiguous | -0.56 | Destabilizing | 1.0 | D | 0.773 | deleterious | N | 0.502433441 | None | None | N |
| P/M | 0.7173 | likely_pathogenic | 0.7425 | pathogenic | -0.386 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| P/N | 0.5063 | ambiguous | 0.5415 | ambiguous | -0.37 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | N |
| P/Q | 0.3839 | ambiguous | 0.3945 | ambiguous | -0.675 | Destabilizing | 1.0 | D | 0.765 | deleterious | N | 0.459533773 | None | None | N |
| P/R | 0.3356 | likely_benign | 0.3391 | benign | -0.057 | Destabilizing | 1.0 | D | 0.788 | deleterious | N | 0.433927109 | None | None | N |
| P/S | 0.3053 | likely_benign | 0.3125 | benign | -0.788 | Destabilizing | 1.0 | D | 0.751 | deleterious | N | 0.442419266 | None | None | N |
| P/T | 0.2888 | likely_benign | 0.2957 | benign | -0.794 | Destabilizing | 1.0 | D | 0.745 | deleterious | N | 0.461243714 | None | None | N |
| P/V | 0.531 | ambiguous | 0.56 | ambiguous | -0.632 | Destabilizing | 1.0 | D | 0.77 | deleterious | None | None | None | None | N |
| P/W | 0.8945 | likely_pathogenic | 0.9029 | pathogenic | -1.049 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| P/Y | 0.7267 | likely_pathogenic | 0.753 | pathogenic | -0.765 | Destabilizing | 1.0 | D | 0.757 | 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.