Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9950 | 30073;30074;30075 | chr2:178704624;178704623;178704622 | chr2:179569351;179569350;179569349 |
| N2AB | 9633 | 29122;29123;29124 | chr2:178704624;178704623;178704622 | chr2:179569351;179569350;179569349 |
| N2A | 8706 | 26341;26342;26343 | chr2:178704624;178704623;178704622 | chr2:179569351;179569350;179569349 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/C | None | None | 0.56 | None | 0.448 | 0.173 | 0.422040124859 | gnomAD-4.0.0 | 2.05436E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.70012E-06 | 0 | 0 |
| S/G | rs1560516000  |
None | None | None | 0.131 | 0.096 | 0.260249123532 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | N | None | 1.14758E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/G | rs1560516000 |
None | None | None | 0.131 | 0.096 | 0.260249123532 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/G | rs1560516000 |
None | None | None | 0.131 | 0.096 | 0.260249123532 | gnomAD-4.0.0 | 4.34098E-06 | None | None | None | None | N | None | 5.33846E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.80615E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0936 | likely_benign | 0.1066 | benign | -0.423 | Destabilizing | 0.007 | N | 0.235 | neutral | None | None | None | None | N |
| S/C | 0.1184 | likely_benign | 0.1709 | benign | -0.298 | Destabilizing | 0.56 | D | 0.448 | neutral | None | None | None | None | N |
| S/D | 0.3118 | likely_benign | 0.3421 | ambiguous | -0.228 | Destabilizing | 0.072 | N | 0.349 | neutral | None | None | None | None | N |
| S/E | 0.2992 | likely_benign | 0.3479 | ambiguous | -0.258 | Destabilizing | 0.016 | N | 0.324 | neutral | None | None | None | None | N |
| S/F | 0.2421 | likely_benign | 0.3103 | benign | -0.659 | Destabilizing | None | N | 0.317 | neutral | None | None | None | None | N |
| S/G | 0.1207 | likely_benign | 0.1362 | benign | -0.646 | Destabilizing | None | N | 0.131 | neutral | None | None | None | None | N |
| S/H | 0.1463 | likely_benign | 0.1674 | benign | -1.175 | Destabilizing | 0.001 | N | 0.258 | neutral | None | None | None | None | N |
| S/I | 0.1134 | likely_benign | 0.1421 | benign | 0.053 | Stabilizing | 0.029 | N | 0.557 | neutral | None | None | None | None | N |
| S/K | 0.213 | likely_benign | 0.2774 | benign | -0.774 | Destabilizing | None | N | 0.11 | neutral | None | None | None | None | N |
| S/L | 0.1177 | likely_benign | 0.1548 | benign | 0.053 | Stabilizing | None | N | 0.277 | neutral | None | None | None | None | N |
| S/M | 0.1544 | likely_benign | 0.1911 | benign | 0.202 | Stabilizing | 0.12 | N | 0.466 | neutral | None | None | None | None | N |
| S/N | 0.1168 | likely_benign | 0.1317 | benign | -0.594 | Destabilizing | 0.029 | N | 0.375 | neutral | None | None | None | None | N |
| S/P | 0.9559 | likely_pathogenic | 0.9612 | pathogenic | -0.071 | Destabilizing | 0.136 | N | 0.538 | neutral | None | None | None | None | N |
| S/Q | 0.1991 | likely_benign | 0.2336 | benign | -0.725 | Destabilizing | 0.072 | N | 0.403 | neutral | None | None | None | None | N |
| S/R | 0.1578 | likely_benign | 0.2029 | benign | -0.633 | Destabilizing | None | N | 0.167 | neutral | None | None | None | None | N |
| S/T | 0.0642 | likely_benign | 0.0693 | benign | -0.564 | Destabilizing | None | N | 0.117 | neutral | None | None | None | None | N |
| S/V | 0.1499 | likely_benign | 0.1976 | benign | -0.071 | Destabilizing | 0.016 | N | 0.439 | neutral | None | None | None | None | N |
| S/W | 0.3443 | ambiguous | 0.3936 | ambiguous | -0.717 | Destabilizing | 0.676 | D | 0.532 | neutral | None | None | None | None | N |
| S/Y | 0.1992 | likely_benign | 0.2557 | benign | -0.449 | Destabilizing | None | N | 0.324 | 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.