Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28527 | 85804;85805;85806 | chr2:178560553;178560552;178560551 | chr2:179425280;179425279;179425278 |
| N2AB | 26886 | 80881;80882;80883 | chr2:178560553;178560552;178560551 | chr2:179425280;179425279;179425278 |
| N2A | 25959 | 78100;78101;78102 | chr2:178560553;178560552;178560551 | chr2:179425280;179425279;179425278 |
| N2B | 19462 | 58609;58610;58611 | chr2:178560553;178560552;178560551 | chr2:179425280;179425279;179425278 |
| Novex-1 | 19587 | 58984;58985;58986 | chr2:178560553;178560552;178560551 | chr2:179425280;179425279;179425278 |
| Novex-2 | 19654 | 59185;59186;59187 | chr2:178560553;178560552;178560551 | chr2:179425280;179425279;179425278 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | None | None | 0.016 | N | 0.443 | 0.097 | 0.0401082797425 | gnomAD-4.0.0 | 6.84438E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99559E-07 | 0 | 0 |
| G/D | rs886038882  |
None | 0.946 | N | 0.835 | 0.293 | 0.236890367714 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/D | rs886038882 |
None | 0.946 | N | 0.835 | 0.293 | 0.236890367714 | gnomAD-4.0.0 | 3.09951E-06 | None | None | None | None | N | None | 1.33526E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 3.39072E-06 | 0 | 0 |
| G/S | rs1703237348 |
None | 0.716 | N | 0.733 | 0.275 | 0.269111216191 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/S | rs1703237348 |
None | 0.716 | N | 0.733 | 0.275 | 0.269111216191 | gnomAD-4.0.0 | 6.57341E-06 | None | None | None | None | N | None | 0 | 6.55222E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.0553 | likely_benign | 0.0561 | benign | -1.176 | Destabilizing | 0.016 | N | 0.443 | neutral | N | 0.260802223 | None | None | N |
| G/C | 0.3137 | likely_benign | 0.3072 | benign | -1.228 | Destabilizing | 0.993 | D | 0.839 | deleterious | N | 0.504893429 | None | None | N |
| G/D | 0.9557 | likely_pathogenic | 0.9693 | pathogenic | -2.488 | Highly Destabilizing | 0.946 | D | 0.835 | deleterious | N | 0.46987062 | None | None | N |
| G/E | 0.958 | likely_pathogenic | 0.9583 | pathogenic | -2.234 | Highly Destabilizing | 0.959 | D | 0.814 | deleterious | None | None | None | None | N |
| G/F | 0.9785 | likely_pathogenic | 0.9724 | pathogenic | -0.499 | Destabilizing | 0.994 | D | 0.874 | deleterious | None | None | None | None | N |
| G/H | 0.9793 | likely_pathogenic | 0.9792 | pathogenic | -2.051 | Highly Destabilizing | 0.998 | D | 0.829 | deleterious | None | None | None | None | N |
| G/I | 0.7797 | likely_pathogenic | 0.7645 | pathogenic | 0.077 | Stabilizing | 0.959 | D | 0.873 | deleterious | None | None | None | None | N |
| G/K | 0.9873 | likely_pathogenic | 0.9858 | pathogenic | -1.006 | Destabilizing | 0.959 | D | 0.814 | deleterious | None | None | None | None | N |
| G/L | 0.8394 | likely_pathogenic | 0.8095 | pathogenic | 0.077 | Stabilizing | 0.921 | D | 0.83 | deleterious | None | None | None | None | N |
| G/M | 0.8953 | likely_pathogenic | 0.8798 | pathogenic | -0.52 | Destabilizing | 0.994 | D | 0.84 | deleterious | None | None | None | None | N |
| G/N | 0.9402 | likely_pathogenic | 0.9439 | pathogenic | -1.489 | Destabilizing | 0.979 | D | 0.82 | deleterious | None | None | None | None | N |
| G/P | 0.816 | likely_pathogenic | 0.862 | pathogenic | -0.305 | Destabilizing | 0.959 | D | 0.82 | deleterious | None | None | None | None | N |
| G/Q | 0.9699 | likely_pathogenic | 0.9686 | pathogenic | -1.146 | Destabilizing | 0.994 | D | 0.861 | deleterious | None | None | None | None | N |
| G/R | 0.9543 | likely_pathogenic | 0.9497 | pathogenic | -1.334 | Destabilizing | 0.946 | D | 0.837 | deleterious | N | 0.46987062 | None | None | N |
| G/S | 0.1759 | likely_benign | 0.1823 | benign | -1.781 | Destabilizing | 0.716 | D | 0.733 | prob.delet. | N | 0.453848533 | None | None | N |
| G/T | 0.4604 | ambiguous | 0.4492 | ambiguous | -1.411 | Destabilizing | 0.921 | D | 0.803 | deleterious | None | None | None | None | N |
| G/V | 0.4892 | ambiguous | 0.4615 | ambiguous | -0.305 | Destabilizing | 0.898 | D | 0.825 | deleterious | N | 0.504199996 | None | None | N |
| G/W | 0.9681 | likely_pathogenic | 0.9642 | pathogenic | -1.291 | Destabilizing | 0.998 | D | 0.825 | deleterious | None | None | None | None | N |
| G/Y | 0.9704 | likely_pathogenic | 0.9669 | pathogenic | -0.821 | Destabilizing | 0.998 | D | 0.871 | 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.