Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31325 | 94198;94199;94200 | chr2:178547653;178547652;178547651 | chr2:179412380;179412379;179412378 |
| N2AB | 29684 | 89275;89276;89277 | chr2:178547653;178547652;178547651 | chr2:179412380;179412379;179412378 |
| N2A | 28757 | 86494;86495;86496 | chr2:178547653;178547652;178547651 | chr2:179412380;179412379;179412378 |
| N2B | 22260 | 67003;67004;67005 | chr2:178547653;178547652;178547651 | chr2:179412380;179412379;179412378 |
| Novex-1 | 22385 | 67378;67379;67380 | chr2:178547653;178547652;178547651 | chr2:179412380;179412379;179412378 |
| Novex-2 | 22452 | 67579;67580;67581 | chr2:178547653;178547652;178547651 | chr2:179412380;179412379;179412378 |
| 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/L | rs143679526  |
-0.065 | 1.0 | N | 0.772 | 0.49 | None | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | N | None | 1.29182E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| S/L | rs143679526 |
-0.065 | 1.0 | N | 0.772 | 0.49 | None | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 7.24E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.06954E-04 | 0 |
| S/L | rs143679526 |
-0.065 | 1.0 | N | 0.772 | 0.49 | None | 1000 genomes | 3.99361E-04 | None | None | None | None | N | None | 1.5E-03 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| S/L | rs143679526 |
-0.065 | 1.0 | N | 0.772 | 0.49 | None | gnomAD-4.0.0 | 8.675E-06 | None | None | None | None | N | None | 6.66631E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 6.78076E-06 | 1.09786E-05 | 0 |
| S/T | None | None | 0.999 | N | 0.487 | 0.363 | 0.392855499163 | gnomAD-4.0.0 | 1.59105E-06 | None | None | None | None | N | None | 0 | 2.28655E-05 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1754 | likely_benign | 0.1693 | benign | -0.401 | Destabilizing | 0.997 | D | 0.451 | neutral | N | 0.521604826 | None | None | N |
| S/C | 0.1825 | likely_benign | 0.172 | benign | -0.776 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| S/D | 0.8106 | likely_pathogenic | 0.7909 | pathogenic | -1.805 | Destabilizing | 0.999 | D | 0.599 | neutral | None | None | None | None | N |
| S/E | 0.876 | likely_pathogenic | 0.8608 | pathogenic | -1.763 | Destabilizing | 0.999 | D | 0.579 | neutral | None | None | None | None | N |
| S/F | 0.257 | likely_benign | 0.2969 | benign | -0.777 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| S/G | 0.1886 | likely_benign | 0.1596 | benign | -0.638 | Destabilizing | 0.999 | D | 0.498 | neutral | None | None | None | None | N |
| S/H | 0.5542 | ambiguous | 0.5509 | ambiguous | -1.203 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| S/I | 0.5424 | ambiguous | 0.5835 | pathogenic | 0.125 | Stabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| S/K | 0.9716 | likely_pathogenic | 0.9652 | pathogenic | -0.684 | Destabilizing | 0.999 | D | 0.583 | neutral | None | None | None | None | N |
| S/L | 0.3028 | likely_benign | 0.3163 | benign | 0.125 | Stabilizing | 1.0 | D | 0.772 | deleterious | N | 0.51938917 | None | None | N |
| S/M | 0.3156 | likely_benign | 0.3199 | benign | 0.375 | Stabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| S/N | 0.2922 | likely_benign | 0.2679 | benign | -1.125 | Destabilizing | 0.999 | D | 0.576 | neutral | None | None | None | None | N |
| S/P | 0.9967 | likely_pathogenic | 0.9964 | pathogenic | -0.018 | Destabilizing | 1.0 | D | 0.84 | deleterious | D | 0.530745476 | None | None | N |
| S/Q | 0.815 | likely_pathogenic | 0.7969 | pathogenic | -1.321 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| S/R | 0.9597 | likely_pathogenic | 0.9516 | pathogenic | -0.549 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| S/T | 0.1409 | likely_benign | 0.148 | benign | -0.841 | Destabilizing | 0.999 | D | 0.487 | neutral | N | 0.51583086 | None | None | N |
| S/V | 0.497 | ambiguous | 0.5224 | ambiguous | -0.018 | Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | N |
| S/W | 0.5474 | ambiguous | 0.5715 | pathogenic | -0.943 | Destabilizing | 1.0 | D | 0.835 | deleterious | N | 0.512805805 | None | None | N |
| S/Y | 0.2355 | likely_benign | 0.2578 | benign | -0.522 | Destabilizing | 1.0 | D | 0.859 | deleterious | 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.