Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3070 | 9433;9434;9435 | chr2:178768111;178768110;178768109 | chr2:179632838;179632837;179632836 |
| N2AB | 3070 | 9433;9434;9435 | chr2:178768111;178768110;178768109 | chr2:179632838;179632837;179632836 |
| N2A | 3070 | 9433;9434;9435 | chr2:178768111;178768110;178768109 | chr2:179632838;179632837;179632836 |
| N2B | 3024 | 9295;9296;9297 | chr2:178768111;178768110;178768109 | chr2:179632838;179632837;179632836 |
| Novex-1 | 3024 | 9295;9296;9297 | chr2:178768111;178768110;178768109 | chr2:179632838;179632837;179632836 |
| Novex-2 | 3024 | 9295;9296;9297 | chr2:178768111;178768110;178768109 | chr2:179632838;179632837;179632836 |
| Novex-3 | 3070 | 9433;9434;9435 | chr2:178768111;178768110;178768109 | chr2:179632838;179632837;179632836 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/P | rs530883294  |
-0.239 | 0.963 | N | 0.459 | 0.439 | 0.798563562665 | gnomAD-2.1.1 | 3.99E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 5.46E-05 | None | 0 | None | 0 | 0 | 0 |
| L/P | rs530883294 |
-0.239 | 0.963 | N | 0.459 | 0.439 | 0.798563562665 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 1.92234E-04 | None | 0 | 0 | 0 | 0 | 0 |
| L/P | rs530883294 |
-0.239 | 0.963 | N | 0.459 | 0.439 | 0.798563562665 | 1000 genomes | 1.99681E-04 | None | None | None | None | I | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
| L/P | rs530883294 |
-0.239 | 0.963 | N | 0.459 | 0.439 | 0.798563562665 | gnomAD-4.0.0 | 3.84112E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 7.28049E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.2935 | likely_benign | 0.4443 | ambiguous | -1.032 | Destabilizing | 0.25 | N | 0.399 | neutral | None | None | None | None | I |
| L/C | 0.7714 | likely_pathogenic | 0.8709 | pathogenic | -0.762 | Destabilizing | 0.977 | D | 0.398 | neutral | None | None | None | None | I |
| L/D | 0.8957 | likely_pathogenic | 0.9361 | pathogenic | -0.555 | Destabilizing | 0.92 | D | 0.458 | neutral | None | None | None | None | I |
| L/E | 0.6083 | likely_pathogenic | 0.7047 | pathogenic | -0.626 | Destabilizing | 0.92 | D | 0.455 | neutral | None | None | None | None | I |
| L/F | 0.2816 | likely_benign | 0.3789 | ambiguous | -0.823 | Destabilizing | 0.85 | D | 0.377 | neutral | None | None | None | None | I |
| L/G | 0.7317 | likely_pathogenic | 0.8317 | pathogenic | -1.247 | Destabilizing | 0.92 | D | 0.443 | neutral | None | None | None | None | I |
| L/H | 0.492 | ambiguous | 0.6097 | pathogenic | -0.4 | Destabilizing | 0.992 | D | 0.453 | neutral | None | None | None | None | I |
| L/I | 0.093 | likely_benign | 0.1592 | benign | -0.568 | Destabilizing | 0.009 | N | 0.204 | neutral | None | None | None | None | I |
| L/K | 0.5168 | ambiguous | 0.5622 | ambiguous | -0.712 | Destabilizing | 0.85 | D | 0.447 | neutral | None | None | None | None | I |
| L/M | 0.1238 | likely_benign | 0.1731 | benign | -0.513 | Destabilizing | 0.81 | D | 0.367 | neutral | N | 0.500697758 | None | None | I |
| L/N | 0.5592 | ambiguous | 0.7292 | pathogenic | -0.508 | Destabilizing | 0.92 | D | 0.46 | neutral | None | None | None | None | I |
| L/P | 0.5136 | ambiguous | 0.6294 | pathogenic | -0.689 | Destabilizing | 0.963 | D | 0.459 | neutral | N | 0.506954722 | None | None | I |
| L/Q | 0.2665 | likely_benign | 0.3559 | ambiguous | -0.753 | Destabilizing | 0.963 | D | 0.451 | neutral | N | 0.49508914 | None | None | I |
| L/R | 0.4541 | ambiguous | 0.4855 | ambiguous | -0.053 | Destabilizing | 0.896 | D | 0.458 | neutral | N | 0.5044951 | None | None | I |
| L/S | 0.3902 | ambiguous | 0.5731 | pathogenic | -1.001 | Destabilizing | 0.447 | N | 0.467 | neutral | None | None | None | None | I |
| L/T | 0.2131 | likely_benign | 0.3511 | ambiguous | -0.964 | Destabilizing | 0.009 | N | 0.252 | neutral | None | None | None | None | I |
| L/V | 0.0909 | likely_benign | 0.1533 | benign | -0.689 | Destabilizing | 0.002 | N | 0.191 | neutral | N | 0.459648004 | None | None | I |
| L/W | 0.4937 | ambiguous | 0.5845 | pathogenic | -0.817 | Destabilizing | 0.992 | D | 0.513 | neutral | None | None | None | None | I |
| L/Y | 0.6597 | likely_pathogenic | 0.7614 | pathogenic | -0.608 | Destabilizing | 0.92 | D | 0.4 | 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.