Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 4862 | 14809;14810;14811 | chr2:178735862;178735861;178735860 | chr2:179600589;179600588;179600587 |
| N2AB | 4545 | 13858;13859;13860 | chr2:178735862;178735861;178735860 | chr2:179600589;179600588;179600587 |
| N2A | 3618 | 11077;11078;11079 | chr2:178735862;178735861;178735860 | chr2:179600589;179600588;179600587 |
| 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 | rs952359009  |
-1.246 | None | N | 0.272 | 0.227 | 0.46123363591 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| R/G | rs952359009 |
-1.246 | None | N | 0.272 | 0.227 | 0.46123363591 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 7.23E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| R/G | rs952359009 |
-1.246 | None | N | 0.272 | 0.227 | 0.46123363591 | gnomAD-4.0.0 | 1.97075E-05 | None | None | None | None | N | None | 7.23484E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| R/S | rs1260217446 |
None | 0.012 | N | 0.551 | 0.15 | 0.255777322467 | gnomAD-4.0.0 | 1.59123E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77531E-05 | None | 0 | 0 | 0 | 0 | 0 |
| R/T | None | None | 0.055 | N | 0.587 | 0.122 | 0.45783149361 | gnomAD-4.0.0 | 1.59123E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85799E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.2693 | likely_benign | 0.1979 | benign | -0.838 | Destabilizing | 0.016 | N | 0.485 | neutral | None | None | None | None | N |
| R/C | 0.1906 | likely_benign | 0.1656 | benign | -0.885 | Destabilizing | 0.864 | D | 0.521 | neutral | None | None | None | None | N |
| R/D | 0.6466 | likely_pathogenic | 0.5304 | ambiguous | 0.094 | Stabilizing | 0.072 | N | 0.554 | neutral | None | None | None | None | N |
| R/E | 0.2736 | likely_benign | 0.2022 | benign | 0.227 | Stabilizing | 0.016 | N | 0.509 | neutral | None | None | None | None | N |
| R/F | 0.6047 | likely_pathogenic | 0.5012 | ambiguous | -0.655 | Destabilizing | 0.628 | D | 0.552 | neutral | None | None | None | None | N |
| R/G | 0.1551 | likely_benign | 0.1111 | benign | -1.141 | Destabilizing | None | N | 0.272 | neutral | N | 0.506423914 | None | None | N |
| R/H | 0.1221 | likely_benign | 0.1088 | benign | -1.337 | Destabilizing | 0.356 | N | 0.588 | neutral | None | None | None | None | N |
| R/I | 0.3017 | likely_benign | 0.2337 | benign | -0.025 | Destabilizing | 0.295 | N | 0.565 | neutral | D | 0.529489965 | None | None | N |
| R/K | 0.0965 | likely_benign | 0.0788 | benign | -0.728 | Destabilizing | None | N | 0.118 | neutral | D | 0.554489894 | None | None | N |
| R/L | 0.2841 | likely_benign | 0.2288 | benign | -0.025 | Destabilizing | 0.072 | N | 0.561 | neutral | None | None | None | None | N |
| R/M | 0.2449 | likely_benign | 0.1943 | benign | -0.457 | Destabilizing | 0.628 | D | 0.586 | neutral | None | None | None | None | N |
| R/N | 0.5126 | ambiguous | 0.4081 | ambiguous | -0.31 | Destabilizing | 0.072 | N | 0.535 | neutral | None | None | None | None | N |
| R/P | 0.762 | likely_pathogenic | 0.691 | pathogenic | -0.276 | Destabilizing | 0.356 | N | 0.603 | neutral | None | None | None | None | N |
| R/Q | 0.0945 | likely_benign | 0.0817 | benign | -0.443 | Destabilizing | 0.001 | N | 0.135 | neutral | None | None | None | None | N |
| R/S | 0.3603 | ambiguous | 0.2634 | benign | -1.127 | Destabilizing | 0.012 | N | 0.551 | neutral | N | 0.470269227 | None | None | N |
| R/T | 0.1792 | likely_benign | 0.1333 | benign | -0.808 | Destabilizing | 0.055 | N | 0.587 | neutral | N | 0.505273834 | None | None | N |
| R/V | 0.4075 | ambiguous | 0.3083 | benign | -0.276 | Destabilizing | 0.072 | N | 0.589 | neutral | None | None | None | None | N |
| R/W | 0.2136 | likely_benign | 0.1833 | benign | -0.31 | Destabilizing | 0.864 | D | 0.541 | neutral | None | None | None | None | N |
| R/Y | 0.4336 | ambiguous | 0.3505 | ambiguous | -0.03 | Destabilizing | 0.356 | N | 0.562 | neutral | 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.