Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16051 | 48376;48377;48378 | chr2:178616738;178616737;178616736 | chr2:179481465;179481464;179481463 |
| N2AB | 14410 | 43453;43454;43455 | chr2:178616738;178616737;178616736 | chr2:179481465;179481464;179481463 |
| N2A | 13483 | 40672;40673;40674 | chr2:178616738;178616737;178616736 | chr2:179481465;179481464;179481463 |
| N2B | 6986 | 21181;21182;21183 | chr2:178616738;178616737;178616736 | chr2:179481465;179481464;179481463 |
| Novex-1 | 7111 | 21556;21557;21558 | chr2:178616738;178616737;178616736 | chr2:179481465;179481464;179481463 |
| Novex-2 | 7178 | 21757;21758;21759 | chr2:178616738;178616737;178616736 | chr2:179481465;179481464;179481463 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/I | None | None | 0.82 | D | 0.644 | 0.314 | 0.507213507908 | gnomAD-4.0.0 | 2.05405E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 3.48036E-05 | 0 |
| N/S | rs534426018  |
-0.43 | 0.034 | D | 0.293 | 0.161 | 0.187945064343 | gnomAD-2.1.1 | 2.83E-05 | None | None | None | None | N | None | 6.47E-05 | 0 | None | 0 | 1.67654E-04 | None | 0 | None | 0 | 2.68E-05 | 0 |
| N/S | rs534426018 |
-0.43 | 0.034 | D | 0.293 | 0.161 | 0.187945064343 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| N/S | rs534426018 |
-0.43 | 0.034 | D | 0.293 | 0.161 | 0.187945064343 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| N/S | rs534426018 |
-0.43 | 0.034 | D | 0.293 | 0.161 | 0.187945064343 | gnomAD-4.0.0 | 1.48831E-05 | None | None | None | None | N | None | 5.34045E-05 | 0 | None | 0 | 2.23414E-04 | None | 0 | 1.65344E-04 | 5.08841E-06 | 2.19727E-05 | 1.60241E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.3734 | ambiguous | 0.4283 | ambiguous | -0.888 | Destabilizing | 0.633 | D | 0.609 | neutral | None | None | None | None | N |
| N/C | 0.3733 | ambiguous | 0.4521 | ambiguous | -0.144 | Destabilizing | 0.996 | D | 0.725 | prob.delet. | None | None | None | None | N |
| N/D | 0.3084 | likely_benign | 0.3182 | benign | -0.706 | Destabilizing | 0.722 | D | 0.538 | neutral | D | 0.59775155 | None | None | N |
| N/E | 0.5639 | ambiguous | 0.5955 | pathogenic | -0.621 | Destabilizing | 0.775 | D | 0.53 | neutral | None | None | None | None | N |
| N/F | 0.7067 | likely_pathogenic | 0.7416 | pathogenic | -0.592 | Destabilizing | 0.923 | D | 0.721 | prob.delet. | None | None | None | None | N |
| N/G | 0.5509 | ambiguous | 0.5915 | pathogenic | -1.218 | Destabilizing | 0.633 | D | 0.529 | neutral | None | None | None | None | N |
| N/H | 0.1366 | likely_benign | 0.1339 | benign | -0.908 | Destabilizing | 0.949 | D | 0.534 | neutral | D | 0.556818088 | None | None | N |
| N/I | 0.3281 | likely_benign | 0.3694 | ambiguous | -0.053 | Destabilizing | 0.82 | D | 0.644 | neutral | D | 0.532257251 | None | None | N |
| N/K | 0.4136 | ambiguous | 0.43 | ambiguous | -0.419 | Destabilizing | 0.565 | D | 0.533 | neutral | N | 0.493853627 | None | None | N |
| N/L | 0.4001 | ambiguous | 0.4461 | ambiguous | -0.053 | Destabilizing | 0.011 | N | 0.5 | neutral | None | None | None | None | N |
| N/M | 0.4686 | ambiguous | 0.5222 | ambiguous | 0.36 | Stabilizing | 0.979 | D | 0.686 | prob.neutral | None | None | None | None | N |
| N/P | 0.9679 | likely_pathogenic | 0.9692 | pathogenic | -0.302 | Destabilizing | 0.961 | D | 0.675 | neutral | None | None | None | None | N |
| N/Q | 0.4602 | ambiguous | 0.4863 | ambiguous | -1.038 | Destabilizing | 0.923 | D | 0.519 | neutral | None | None | None | None | N |
| N/R | 0.4017 | ambiguous | 0.4321 | ambiguous | -0.374 | Destabilizing | 0.923 | D | 0.53 | neutral | None | None | None | None | N |
| N/S | 0.1229 | likely_benign | 0.1387 | benign | -1.009 | Destabilizing | 0.034 | N | 0.293 | neutral | D | 0.553138135 | None | None | N |
| N/T | 0.1494 | likely_benign | 0.1797 | benign | -0.743 | Destabilizing | 0.565 | D | 0.521 | neutral | N | 0.501862335 | None | None | N |
| N/V | 0.333 | likely_benign | 0.3815 | ambiguous | -0.302 | Destabilizing | 0.858 | D | 0.648 | neutral | None | None | None | None | N |
| N/W | 0.8499 | likely_pathogenic | 0.8718 | pathogenic | -0.331 | Destabilizing | 0.996 | D | 0.741 | deleterious | None | None | None | None | N |
| N/Y | 0.2933 | likely_benign | 0.3169 | benign | -0.149 | Destabilizing | 0.983 | D | 0.694 | prob.neutral | D | 0.600345634 | 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.