Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9379 | 28360;28361;28362 | chr2:178711101;178711100;178711099 | chr2:179575828;179575827;179575826 |
| N2AB | 9062 | 27409;27410;27411 | chr2:178711101;178711100;178711099 | chr2:179575828;179575827;179575826 |
| N2A | 8135 | 24628;24629;24630 | chr2:178711101;178711100;178711099 | chr2:179575828;179575827;179575826 |
| 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/M | rs1060500516  |
-0.342 | 0.81 | None | 0.437 | 0.248 | None | gnomAD-2.1.1 | 2.15E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 4.71E-05 | 0 |
| I/M | rs1060500516 |
-0.342 | 0.81 | None | 0.437 | 0.248 | None | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 5.88E-05 | 0 | 0 |
| I/M | rs1060500516 |
-0.342 | 0.81 | None | 0.437 | 0.248 | None | gnomAD-4.0.0 | 1.98447E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.71385E-05 | 0 | 0 |
| I/T | None | None | 0.549 | None | 0.462 | 0.243 | 0.604632981478 | gnomAD-4.0.0 | 1.59446E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.0281E-05 |
| I/V | rs1220876999 |
None | 0.002 | None | 0.238 | 0.082 | 0.208816687407 | gnomAD-4.0.0 | 1.59433E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.77316E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.1521 | likely_benign | 0.1564 | benign | -0.458 | Destabilizing | 0.009 | N | 0.311 | neutral | None | None | None | None | I |
| I/C | 0.7159 | likely_pathogenic | 0.7802 | pathogenic | -0.812 | Destabilizing | 0.972 | D | 0.527 | neutral | None | None | None | None | I |
| I/D | 0.6146 | likely_pathogenic | 0.6918 | pathogenic | -0.295 | Destabilizing | 0.92 | D | 0.58 | neutral | None | None | None | None | I |
| I/E | 0.4665 | ambiguous | 0.5374 | ambiguous | -0.395 | Destabilizing | 0.92 | D | 0.551 | neutral | None | None | None | None | I |
| I/F | 0.1547 | likely_benign | 0.1724 | benign | -0.671 | Destabilizing | 0.739 | D | 0.412 | neutral | None | None | None | None | I |
| I/G | 0.5388 | ambiguous | 0.6072 | pathogenic | -0.541 | Destabilizing | 0.617 | D | 0.545 | neutral | None | None | None | None | I |
| I/H | 0.4946 | ambiguous | 0.5439 | ambiguous | 0.081 | Stabilizing | 0.992 | D | 0.573 | neutral | None | None | None | None | I |
| I/K | 0.3509 | ambiguous | 0.4111 | ambiguous | -0.343 | Destabilizing | 0.712 | D | 0.557 | neutral | None | None | None | None | I |
| I/L | 0.0895 | likely_benign | 0.0927 | benign | -0.364 | Destabilizing | 0.002 | N | 0.216 | neutral | None | None | None | None | I |
| I/M | 0.1024 | likely_benign | 0.1081 | benign | -0.61 | Destabilizing | 0.81 | D | 0.437 | neutral | None | None | None | None | I |
| I/N | 0.2837 | likely_benign | 0.3334 | benign | -0.211 | Destabilizing | 0.972 | D | 0.581 | neutral | None | None | None | None | I |
| I/P | 0.8073 | likely_pathogenic | 0.8615 | pathogenic | -0.369 | Destabilizing | 0.92 | D | 0.576 | neutral | None | None | None | None | I |
| I/Q | 0.3946 | ambiguous | 0.4545 | ambiguous | -0.402 | Destabilizing | 0.972 | D | 0.577 | neutral | None | None | None | None | I |
| I/R | 0.2411 | likely_benign | 0.2824 | benign | 0.134 | Stabilizing | 0.896 | D | 0.575 | neutral | None | None | None | None | I |
| I/S | 0.204 | likely_benign | 0.2258 | benign | -0.579 | Destabilizing | 0.447 | N | 0.554 | neutral | None | None | None | None | I |
| I/T | 0.1158 | likely_benign | 0.1197 | benign | -0.582 | Destabilizing | 0.549 | D | 0.462 | neutral | None | None | None | None | I |
| I/V | 0.0687 | likely_benign | 0.0689 | benign | -0.369 | Destabilizing | 0.002 | N | 0.238 | neutral | None | None | None | None | I |
| I/W | 0.7291 | likely_pathogenic | 0.8083 | pathogenic | -0.682 | Destabilizing | 0.992 | D | 0.595 | neutral | None | None | None | None | I |
| I/Y | 0.4892 | ambiguous | 0.5565 | ambiguous | -0.452 | Destabilizing | 0.92 | D | 0.521 | neutral | None | None | None | None | I |
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.