Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7441 | 22546;22547;22548 | chr2:178722466;178722465;178722464 | chr2:179587193;179587192;179587191 |
| N2AB | 7124 | 21595;21596;21597 | chr2:178722466;178722465;178722464 | chr2:179587193;179587192;179587191 |
| N2A | 6197 | 18814;18815;18816 | chr2:178722466;178722465;178722464 | chr2:179587193;179587192;179587191 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/G | None | None | 0.999 | N | 0.668 | 0.515 | 0.684510456746 | gnomAD-4.0.0 | 2.05309E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69898E-06 | 0 | 0 |
| R/P | None | None | 1.0 | N | 0.726 | 0.46 | 0.644673199507 | gnomAD-4.0.0 | 6.84359E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99648E-07 | 0 | 0 |
| R/Q | rs774382033  |
-0.402 | 1.0 | N | 0.661 | 0.291 | 0.280987212366 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 6.54E-05 | None | 0 | 8.9E-06 | 0 |
| R/Q | rs774382033 |
-0.402 | 1.0 | N | 0.661 | 0.291 | 0.280987212366 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| R/Q | rs774382033 |
-0.402 | 1.0 | N | 0.661 | 0.291 | 0.280987212366 | gnomAD-4.0.0 | 5.57865E-06 | None | None | None | None | N | None | 1.3359E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 5.08669E-06 | 1.09839E-05 | 1.60143E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.5591 | ambiguous | 0.4147 | ambiguous | -1.051 | Destabilizing | 0.998 | D | 0.61 | neutral | None | None | None | None | N |
| R/C | 0.258 | likely_benign | 0.1909 | benign | -1.016 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | N |
| R/D | 0.7948 | likely_pathogenic | 0.6948 | pathogenic | -0.328 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | N |
| R/E | 0.5329 | ambiguous | 0.395 | ambiguous | -0.184 | Destabilizing | 0.994 | D | 0.564 | neutral | None | None | None | None | N |
| R/F | 0.5815 | likely_pathogenic | 0.4548 | ambiguous | -0.757 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | N |
| R/G | 0.4051 | ambiguous | 0.2922 | benign | -1.392 | Destabilizing | 0.999 | D | 0.668 | neutral | N | 0.488783883 | None | None | N |
| R/H | 0.104 | likely_benign | 0.0903 | benign | -1.56 | Destabilizing | 1.0 | D | 0.669 | neutral | None | None | None | None | N |
| R/I | 0.39 | ambiguous | 0.2612 | benign | -0.117 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| R/K | 0.187 | likely_benign | 0.1642 | benign | -1.138 | Destabilizing | 0.45 | N | 0.31 | neutral | None | None | None | None | N |
| R/L | 0.3071 | likely_benign | 0.22 | benign | -0.117 | Destabilizing | 0.999 | D | 0.668 | neutral | N | 0.502275277 | None | None | N |
| R/M | 0.4533 | ambiguous | 0.3197 | benign | -0.413 | Destabilizing | 1.0 | D | 0.706 | prob.neutral | None | None | None | None | N |
| R/N | 0.6805 | likely_pathogenic | 0.5572 | ambiguous | -0.637 | Destabilizing | 1.0 | D | 0.661 | neutral | None | None | None | None | N |
| R/P | 0.8188 | likely_pathogenic | 0.7532 | pathogenic | -0.409 | Destabilizing | 1.0 | D | 0.726 | prob.delet. | N | 0.498165179 | None | None | N |
| R/Q | 0.1255 | likely_benign | 0.1022 | benign | -0.751 | Destabilizing | 1.0 | D | 0.661 | neutral | N | 0.491652852 | None | None | N |
| R/S | 0.5583 | ambiguous | 0.418 | ambiguous | -1.437 | Destabilizing | 0.998 | D | 0.675 | prob.neutral | None | None | None | None | N |
| R/T | 0.397 | ambiguous | 0.2552 | benign | -1.1 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | N |
| R/V | 0.474 | ambiguous | 0.342 | ambiguous | -0.409 | Destabilizing | 0.999 | D | 0.714 | prob.delet. | None | None | None | None | N |
| R/W | 0.2197 | likely_benign | 0.1592 | benign | -0.352 | Destabilizing | 1.0 | D | 0.663 | neutral | None | None | None | None | N |
| R/Y | 0.4099 | ambiguous | 0.3048 | benign | -0.078 | Destabilizing | 1.0 | D | 0.72 | prob.delet. | 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.