Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6043 | 18352;18353;18354 | chr2:178730273;178730272;178730271 | chr2:179595000;179594999;179594998 |
| N2AB | 5726 | 17401;17402;17403 | chr2:178730273;178730272;178730271 | chr2:179595000;179594999;179594998 |
| N2A | 4799 | 14620;14621;14622 | chr2:178730273;178730272;178730271 | chr2:179595000;179594999;179594998 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/R | rs1395649449  |
-0.594 | 0.998 | D | 0.866 | 0.797 | 0.887689743602 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.65E-05 | None | 0 | None | 0 | 0 | 0 |
| I/R | rs1395649449 |
-0.594 | 0.998 | D | 0.866 | 0.797 | 0.887689743602 | gnomAD-4.0.0 | 1.5933E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.78412E-05 | None | 0 | 0 | 0 | 0 | 0 |
| I/V | rs1390946265 |
-1.102 | 0.941 | N | 0.418 | 0.237 | 0.59028757549 | gnomAD-2.1.1 | 1.8E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.2E-05 | None | 1.31605E-04 | None | 0 | 0 | 0 |
| I/V | rs1390946265 |
-1.102 | 0.941 | N | 0.418 | 0.237 | 0.59028757549 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.93125E-04 | None | 0 | 0 | 0 | 2.06782E-04 | 0 |
| I/V | rs1390946265 |
-1.102 | 0.941 | N | 0.418 | 0.237 | 0.59028757549 | gnomAD-4.0.0 | 6.20014E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.23624E-05 | None | 0 | 0 | 1.69566E-06 | 6.59616E-05 | 1.60215E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.4559 | ambiguous | 0.5211 | ambiguous | -2.317 | Highly Destabilizing | 0.992 | D | 0.729 | prob.delet. | None | None | None | None | N |
| I/C | 0.7895 | likely_pathogenic | 0.7902 | pathogenic | -1.486 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | N |
| I/D | 0.9479 | likely_pathogenic | 0.9691 | pathogenic | -2.228 | Highly Destabilizing | 0.999 | D | 0.866 | deleterious | None | None | None | None | N |
| I/E | 0.854 | likely_pathogenic | 0.9077 | pathogenic | -2.11 | Highly Destabilizing | 0.999 | D | 0.863 | deleterious | None | None | None | None | N |
| I/F | 0.2606 | likely_benign | 0.2599 | benign | -1.477 | Destabilizing | 1.0 | D | 0.726 | prob.delet. | None | None | None | None | N |
| I/G | 0.7958 | likely_pathogenic | 0.8417 | pathogenic | -2.78 | Highly Destabilizing | 0.999 | D | 0.849 | deleterious | None | None | None | None | N |
| I/H | 0.8455 | likely_pathogenic | 0.8767 | pathogenic | -2.142 | Highly Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| I/K | 0.7189 | likely_pathogenic | 0.8082 | pathogenic | -1.692 | Destabilizing | 0.998 | D | 0.863 | deleterious | D | 0.534776352 | None | None | N |
| I/L | 0.1682 | likely_benign | 0.1884 | benign | -1.033 | Destabilizing | 0.973 | D | 0.467 | neutral | N | 0.514247284 | None | None | N |
| I/M | 0.1233 | likely_benign | 0.1312 | benign | -0.808 | Destabilizing | 0.999 | D | 0.684 | prob.neutral | D | 0.527686008 | None | None | N |
| I/N | 0.6927 | likely_pathogenic | 0.7595 | pathogenic | -1.695 | Destabilizing | 0.999 | D | 0.869 | deleterious | None | None | None | None | N |
| I/P | 0.901 | likely_pathogenic | 0.9231 | pathogenic | -1.436 | Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| I/Q | 0.7429 | likely_pathogenic | 0.8041 | pathogenic | -1.732 | Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | N |
| I/R | 0.6502 | likely_pathogenic | 0.7403 | pathogenic | -1.231 | Destabilizing | 0.998 | D | 0.866 | deleterious | D | 0.546132658 | None | None | N |
| I/S | 0.5493 | ambiguous | 0.6196 | pathogenic | -2.38 | Highly Destabilizing | 0.983 | D | 0.839 | deleterious | None | None | None | None | N |
| I/T | 0.4479 | ambiguous | 0.5179 | ambiguous | -2.132 | Highly Destabilizing | 0.543 | D | 0.496 | neutral | N | 0.516165118 | None | None | N |
| I/V | 0.0762 | likely_benign | 0.0756 | benign | -1.436 | Destabilizing | 0.941 | D | 0.418 | neutral | N | 0.445296126 | None | None | N |
| I/W | 0.844 | likely_pathogenic | 0.8617 | pathogenic | -1.745 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| I/Y | 0.6916 | likely_pathogenic | 0.7292 | pathogenic | -1.501 | Destabilizing | 1.0 | D | 0.755 | 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.