Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32327 | 97204;97205;97206 | chr2:178542875;178542874;178542873 | chr2:179407602;179407601;179407600 |
| N2AB | 30686 | 92281;92282;92283 | chr2:178542875;178542874;178542873 | chr2:179407602;179407601;179407600 |
| N2A | 29759 | 89500;89501;89502 | chr2:178542875;178542874;178542873 | chr2:179407602;179407601;179407600 |
| N2B | 23262 | 70009;70010;70011 | chr2:178542875;178542874;178542873 | chr2:179407602;179407601;179407600 |
| Novex-1 | 23387 | 70384;70385;70386 | chr2:178542875;178542874;178542873 | chr2:179407602;179407601;179407600 |
| Novex-2 | 23454 | 70585;70586;70587 | chr2:178542875;178542874;178542873 | chr2:179407602;179407601;179407600 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | None | None | None | N | 0.154 | 0.071 | 0.451023696535 | gnomAD-4.0.0 | 1.36843E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.31889E-05 | 0 |
| V/M | rs956461857  |
-0.325 | 0.73 | N | 0.405 | 0.101 | 0.571554507246 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.96E-06 | 0 |
| V/M | rs956461857 |
-0.325 | 0.73 | N | 0.405 | 0.101 | 0.571554507246 | gnomAD-4.0.0 | 6.36519E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.5754E-06 | 0 | 3.02371E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.1104 | likely_benign | 0.1154 | benign | -1.137 | Destabilizing | None | N | 0.154 | neutral | N | 0.447688644 | None | None | N |
| V/C | 0.527 | ambiguous | 0.5378 | ambiguous | -0.794 | Destabilizing | 0.54 | D | 0.455 | neutral | None | None | None | None | N |
| V/D | 0.1875 | likely_benign | 0.193 | benign | -1.122 | Destabilizing | 0.033 | N | 0.439 | neutral | None | None | None | None | N |
| V/E | 0.1824 | likely_benign | 0.1828 | benign | -1.137 | Destabilizing | None | N | 0.311 | neutral | N | 0.344945491 | None | None | N |
| V/F | 0.1497 | likely_benign | 0.1432 | benign | -0.863 | Destabilizing | 0.54 | D | 0.531 | neutral | None | None | None | None | N |
| V/G | 0.1584 | likely_benign | 0.1588 | benign | -1.413 | Destabilizing | 0.011 | N | 0.41 | neutral | N | 0.467757272 | None | None | N |
| V/H | 0.3219 | likely_benign | 0.3188 | benign | -0.896 | Destabilizing | 0.54 | D | 0.515 | neutral | None | None | None | None | N |
| V/I | 0.084 | likely_benign | 0.0822 | benign | -0.49 | Destabilizing | 0.064 | N | 0.399 | neutral | None | None | None | None | N |
| V/K | 0.2351 | likely_benign | 0.2487 | benign | -1.137 | Destabilizing | 0.033 | N | 0.422 | neutral | None | None | None | None | N |
| V/L | 0.1354 | likely_benign | 0.1287 | benign | -0.49 | Destabilizing | 0.011 | N | 0.317 | neutral | N | 0.414885579 | None | None | N |
| V/M | 0.1331 | likely_benign | 0.1269 | benign | -0.465 | Destabilizing | 0.73 | D | 0.405 | neutral | N | 0.486689749 | None | None | N |
| V/N | 0.1323 | likely_benign | 0.1386 | benign | -0.92 | Destabilizing | None | N | 0.385 | neutral | None | None | None | None | N |
| V/P | 0.4788 | ambiguous | 0.4363 | ambiguous | -0.671 | Destabilizing | 0.251 | N | 0.559 | neutral | None | None | None | None | N |
| V/Q | 0.1958 | likely_benign | 0.1986 | benign | -1.085 | Destabilizing | 0.076 | N | 0.525 | neutral | None | None | None | None | N |
| V/R | 0.2086 | likely_benign | 0.2182 | benign | -0.587 | Destabilizing | 0.001 | N | 0.401 | neutral | None | None | None | None | N |
| V/S | 0.1077 | likely_benign | 0.1161 | benign | -1.34 | Destabilizing | 0.003 | N | 0.315 | neutral | None | None | None | None | N |
| V/T | 0.1057 | likely_benign | 0.1119 | benign | -1.249 | Destabilizing | None | N | 0.139 | neutral | None | None | None | None | N |
| V/W | 0.7104 | likely_pathogenic | 0.7039 | pathogenic | -1.045 | Destabilizing | 0.931 | D | 0.523 | neutral | None | None | None | None | N |
| V/Y | 0.4006 | ambiguous | 0.3948 | ambiguous | -0.759 | Destabilizing | 0.781 | D | 0.529 | 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.