Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29183 | 87772;87773;87774 | chr2:178557807;178557806;178557805 | chr2:179422534;179422533;179422532 |
| N2AB | 27542 | 82849;82850;82851 | chr2:178557807;178557806;178557805 | chr2:179422534;179422533;179422532 |
| N2A | 26615 | 80068;80069;80070 | chr2:178557807;178557806;178557805 | chr2:179422534;179422533;179422532 |
| N2B | 20118 | 60577;60578;60579 | chr2:178557807;178557806;178557805 | chr2:179422534;179422533;179422532 |
| Novex-1 | 20243 | 60952;60953;60954 | chr2:178557807;178557806;178557805 | chr2:179422534;179422533;179422532 |
| Novex-2 | 20310 | 61153;61154;61155 | chr2:178557807;178557806;178557805 | chr2:179422534;179422533;179422532 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/E | rs747056438  |
0.141 | 0.638 | N | 0.447 | 0.264 | None | gnomAD-2.1.1 | 8.03E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 8.86E-06 | 0 |
| A/E | rs747056438 |
0.141 | 0.638 | N | 0.447 | 0.264 | 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 |
| A/E | rs747056438 |
0.141 | 0.638 | N | 0.447 | 0.264 | None | gnomAD-4.0.0 | 9.29465E-06 | None | None | None | None | N | None | 0 | 1.66644E-05 | None | 0 | 0 | None | 0 | 0 | 1.18659E-05 | 0 | 0 |
| A/T | None | None | 0.004 | N | 0.357 | 0.095 | 0.158396225186 | gnomAD-4.0.0 | 1.20034E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31253E-06 | 0 | 0 |
| A/V | None | None | 0.201 | N | 0.4 | 0.212 | 0.387689773709 | gnomAD-4.0.0 | 6.84166E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99429E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.6132 | likely_pathogenic | 0.6877 | pathogenic | -0.784 | Destabilizing | 0.947 | D | 0.465 | neutral | None | None | None | None | N |
| A/D | 0.5444 | ambiguous | 0.6919 | pathogenic | -0.238 | Destabilizing | 0.7 | D | 0.583 | neutral | None | None | None | None | N |
| A/E | 0.5194 | ambiguous | 0.6481 | pathogenic | -0.368 | Destabilizing | 0.638 | D | 0.447 | neutral | N | 0.42937695 | None | None | N |
| A/F | 0.6129 | likely_pathogenic | 0.6886 | pathogenic | -0.829 | Destabilizing | 0.826 | D | 0.58 | neutral | None | None | None | None | N |
| A/G | 0.2005 | likely_benign | 0.2622 | benign | -0.397 | Destabilizing | 0.334 | N | 0.385 | neutral | N | 0.410905833 | None | None | N |
| A/H | 0.7249 | likely_pathogenic | 0.7954 | pathogenic | -0.353 | Destabilizing | 0.011 | N | 0.435 | neutral | None | None | None | None | N |
| A/I | 0.384 | ambiguous | 0.467 | ambiguous | -0.31 | Destabilizing | 0.539 | D | 0.487 | neutral | None | None | None | None | N |
| A/K | 0.7302 | likely_pathogenic | 0.814 | pathogenic | -0.589 | Destabilizing | 0.7 | D | 0.475 | neutral | None | None | None | None | N |
| A/L | 0.2726 | likely_benign | 0.3278 | benign | -0.31 | Destabilizing | 0.25 | N | 0.465 | neutral | None | None | None | None | N |
| A/M | 0.3001 | likely_benign | 0.3607 | ambiguous | -0.493 | Destabilizing | 0.947 | D | 0.51 | neutral | None | None | None | None | N |
| A/N | 0.3829 | ambiguous | 0.4798 | ambiguous | -0.284 | Destabilizing | 0.7 | D | 0.582 | neutral | None | None | None | None | N |
| A/P | 0.1805 | likely_benign | 0.2341 | benign | -0.28 | Destabilizing | 0.781 | D | 0.475 | neutral | N | 0.460009288 | None | None | N |
| A/Q | 0.5572 | ambiguous | 0.6297 | pathogenic | -0.507 | Destabilizing | 0.826 | D | 0.47 | neutral | None | None | None | None | N |
| A/R | 0.6553 | likely_pathogenic | 0.7348 | pathogenic | -0.178 | Destabilizing | 0.7 | D | 0.485 | neutral | None | None | None | None | N |
| A/S | 0.1161 | likely_benign | 0.1381 | benign | -0.54 | Destabilizing | 0.201 | N | 0.419 | neutral | N | 0.433804122 | None | None | N |
| A/T | 0.1067 | likely_benign | 0.1296 | benign | -0.578 | Destabilizing | 0.004 | N | 0.357 | neutral | N | 0.367272486 | None | None | N |
| A/V | 0.1672 | likely_benign | 0.214 | benign | -0.28 | Destabilizing | 0.201 | N | 0.4 | neutral | N | 0.463049593 | None | None | N |
| A/W | 0.8899 | likely_pathogenic | 0.9185 | pathogenic | -0.976 | Destabilizing | 0.982 | D | 0.693 | prob.neutral | None | None | None | None | N |
| A/Y | 0.7292 | likely_pathogenic | 0.787 | pathogenic | -0.624 | Destabilizing | 0.7 | D | 0.568 | 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.