Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2493 | 7702;7703;7704 | chr2:178773579;178773578;178773577 | chr2:179638306;179638305;179638304 |
| N2AB | 2493 | 7702;7703;7704 | chr2:178773579;178773578;178773577 | chr2:179638306;179638305;179638304 |
| N2A | 2493 | 7702;7703;7704 | chr2:178773579;178773578;178773577 | chr2:179638306;179638305;179638304 |
| N2B | 2447 | 7564;7565;7566 | chr2:178773579;178773578;178773577 | chr2:179638306;179638305;179638304 |
| Novex-1 | 2447 | 7564;7565;7566 | chr2:178773579;178773578;178773577 | chr2:179638306;179638305;179638304 |
| Novex-2 | 2447 | 7564;7565;7566 | chr2:178773579;178773578;178773577 | chr2:179638306;179638305;179638304 |
| Novex-3 | 2493 | 7702;7703;7704 | chr2:178773579;178773578;178773577 | chr2:179638306;179638305;179638304 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/P | None | None | None | N | 0.294 | 0.354 | 0.221734844693 | gnomAD-4.0.0 | 1.36821E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79864E-06 | 0 | 0 |
| A/S | None | None | None | N | 0.24 | 0.102 | 0.151104730317 | gnomAD-4.0.0 | 1.36821E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79864E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.3832 | ambiguous | 0.3704 | ambiguous | -0.677 | Destabilizing | 0.676 | D | 0.596 | neutral | None | None | None | None | N |
| A/D | 0.3521 | ambiguous | 0.4002 | ambiguous | -1.311 | Destabilizing | None | N | 0.381 | neutral | N | 0.51269278 | None | None | N |
| A/E | 0.342 | ambiguous | 0.3667 | ambiguous | -1.261 | Destabilizing | 0.038 | N | 0.519 | neutral | None | None | None | None | N |
| A/F | 0.2951 | likely_benign | 0.3102 | benign | -0.737 | Destabilizing | 0.214 | N | 0.612 | neutral | None | None | None | None | N |
| A/G | 0.153 | likely_benign | 0.156 | benign | -1.087 | Destabilizing | 0.012 | N | 0.461 | neutral | N | 0.505857433 | None | None | N |
| A/H | 0.5004 | ambiguous | 0.5108 | ambiguous | -1.316 | Destabilizing | 0.676 | D | 0.591 | neutral | None | None | None | None | N |
| A/I | 0.2384 | likely_benign | 0.2475 | benign | -0.012 | Destabilizing | 0.038 | N | 0.513 | neutral | None | None | None | None | N |
| A/K | 0.583 | likely_pathogenic | 0.6107 | pathogenic | -1.163 | Destabilizing | 0.038 | N | 0.517 | neutral | None | None | None | None | N |
| A/L | 0.1919 | likely_benign | 0.1928 | benign | -0.012 | Destabilizing | 0.016 | N | 0.376 | neutral | None | None | None | None | N |
| A/M | 0.2009 | likely_benign | 0.2029 | benign | -0.055 | Destabilizing | 0.003 | N | 0.294 | neutral | None | None | None | None | N |
| A/N | 0.2446 | likely_benign | 0.2515 | benign | -1.053 | Destabilizing | 0.038 | N | 0.616 | neutral | None | None | None | None | N |
| A/P | 0.3553 | ambiguous | 0.3708 | ambiguous | -0.22 | Destabilizing | None | N | 0.294 | neutral | N | 0.502088615 | None | None | N |
| A/Q | 0.4248 | ambiguous | 0.4292 | ambiguous | -1.081 | Destabilizing | 0.214 | N | 0.611 | neutral | None | None | None | None | N |
| A/R | 0.5538 | ambiguous | 0.5838 | pathogenic | -0.938 | Destabilizing | 0.214 | N | 0.609 | neutral | None | None | None | None | N |
| A/S | 0.0901 | likely_benign | 0.0901 | benign | -1.389 | Destabilizing | None | N | 0.24 | neutral | N | 0.504786338 | None | None | N |
| A/T | 0.087 | likely_benign | 0.0878 | benign | -1.231 | Destabilizing | 0.001 | N | 0.219 | neutral | N | 0.424512556 | None | None | N |
| A/V | 0.1251 | likely_benign | 0.1299 | benign | -0.22 | Destabilizing | None | N | 0.135 | neutral | N | 0.40936462 | None | None | N |
| A/W | 0.673 | likely_pathogenic | 0.693 | pathogenic | -1.251 | Destabilizing | 0.864 | D | 0.643 | neutral | None | None | None | None | N |
| A/Y | 0.3709 | ambiguous | 0.3875 | ambiguous | -0.743 | Destabilizing | 0.356 | N | 0.605 | neutral | 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.