Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 4628 | 14107;14108;14109 | chr2:178739351;178739350;178739349 | chr2:179604078;179604077;179604076 |
| N2AB | 4311 | 13156;13157;13158 | chr2:178739351;178739350;178739349 | chr2:179604078;179604077;179604076 |
| N2A | None | None | chr2:None | chr2:None |
| N2B | 4265 | 13018;13019;13020 | chr2:178739351;178739350;178739349 | chr2:179604078;179604077;179604076 |
| Novex-1 | 4390 | 13393;13394;13395 | chr2:178739351;178739350;178739349 | chr2:179604078;179604077;179604076 |
| Novex-2 | 4457 | 13594;13595;13596 | chr2:178739351;178739350;178739349 | chr2:179604078;179604077;179604076 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/C | None | None | None | N | 0.341 | 0.117 | 0.441324992753 | gnomAD-4.0.0 | 6.8421E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.9945E-07 | 0 | 0 |
| S/F | rs794729602  |
-0.625 | 0.171 | D | 0.584 | 0.136 | None | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 1.65948E-04 |
| S/F | rs794729602 |
-0.625 | 0.171 | D | 0.584 | 0.136 | None | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 5.88E-05 | 0 | 0 |
| S/F | rs794729602 |
-0.625 | 0.171 | D | 0.584 | 0.136 | None | gnomAD-4.0.0 | 2.10703E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.71229E-05 | 0 | 3.20256E-05 |
| S/Y | rs794729602 |
None | 0.093 | D | 0.575 | 0.168 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| S/Y | rs794729602 |
None | 0.093 | D | 0.575 | 0.168 | None | gnomAD-4.0.0 | 1.85914E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.54277E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.08 | likely_benign | 0.0803 | benign | -0.503 | Destabilizing | 0.005 | N | 0.349 | neutral | N | 0.507216879 | None | None | N |
| S/C | 0.1117 | likely_benign | 0.1113 | benign | -0.684 | Destabilizing | None | N | 0.341 | neutral | N | 0.512850799 | None | None | N |
| S/D | 0.2991 | likely_benign | 0.327 | benign | -1.637 | Destabilizing | 0.072 | N | 0.427 | neutral | None | None | None | None | N |
| S/E | 0.3645 | ambiguous | 0.3737 | ambiguous | -1.583 | Destabilizing | 0.016 | N | 0.384 | neutral | None | None | None | None | N |
| S/F | 0.1647 | likely_benign | 0.1453 | benign | -0.717 | Destabilizing | 0.171 | N | 0.584 | neutral | D | 0.55473219 | None | None | N |
| S/G | 0.1155 | likely_benign | 0.1355 | benign | -0.777 | Destabilizing | 0.031 | N | 0.385 | neutral | None | None | None | None | N |
| S/H | 0.2736 | likely_benign | 0.2588 | benign | -1.336 | Destabilizing | 0.001 | N | 0.341 | neutral | None | None | None | None | N |
| S/I | 0.1541 | likely_benign | 0.1522 | benign | 0.127 | Stabilizing | 0.001 | N | 0.352 | neutral | None | None | None | None | N |
| S/K | 0.4733 | ambiguous | 0.4904 | ambiguous | -0.739 | Destabilizing | 0.038 | N | 0.41 | neutral | None | None | None | None | N |
| S/L | 0.1116 | likely_benign | 0.1131 | benign | 0.127 | Stabilizing | 0.016 | N | 0.444 | neutral | None | None | None | None | N |
| S/M | 0.2041 | likely_benign | 0.2016 | benign | 0.374 | Stabilizing | 0.214 | N | 0.546 | neutral | None | None | None | None | N |
| S/N | 0.1313 | likely_benign | 0.1461 | benign | -1.133 | Destabilizing | 0.038 | N | 0.447 | neutral | None | None | None | None | N |
| S/P | 0.5938 | likely_pathogenic | 0.6673 | pathogenic | -0.049 | Destabilizing | 0.106 | N | 0.557 | neutral | D | 0.553201687 | None | None | N |
| S/Q | 0.3859 | ambiguous | 0.3812 | ambiguous | -1.259 | Destabilizing | None | N | 0.343 | neutral | None | None | None | None | N |
| S/R | 0.3728 | ambiguous | 0.3866 | ambiguous | -0.662 | Destabilizing | 0.038 | N | 0.547 | neutral | None | None | None | None | N |
| S/T | 0.0798 | likely_benign | 0.0809 | benign | -0.866 | Destabilizing | None | N | 0.249 | neutral | N | 0.471751015 | None | None | N |
| S/V | 0.1541 | likely_benign | 0.146 | benign | -0.049 | Destabilizing | None | N | 0.336 | neutral | None | None | None | None | N |
| S/W | 0.3195 | likely_benign | 0.3023 | benign | -0.882 | Destabilizing | 0.864 | D | 0.591 | neutral | None | None | None | None | N |
| S/Y | 0.1501 | likely_benign | 0.137 | benign | -0.492 | Destabilizing | 0.093 | N | 0.575 | neutral | D | 0.553641358 | 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.