Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6612 | 20059;20060;20061 | chr2:178727744;178727743;178727742 | chr2:179592471;179592470;179592469 |
| N2AB | 6295 | 19108;19109;19110 | chr2:178727744;178727743;178727742 | chr2:179592471;179592470;179592469 |
| N2A | 5368 | 16327;16328;16329 | chr2:178727744;178727743;178727742 | chr2:179592471;179592470;179592469 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | None | None | 0.047 | N | 0.177 | 0.085 | 0.359151904892 | gnomAD-4.0.0 | 6.84395E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99703E-07 | 0 | 0 |
| V/E | rs751909040  |
-0.254 | 0.351 | N | 0.399 | 0.213 | 0.63942624558 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| V/E | rs751909040 |
-0.254 | 0.351 | N | 0.399 | 0.213 | 0.63942624558 | gnomAD-4.0.0 | 1.36879E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15974E-05 | 1.65722E-05 |
| V/M | None | None | 0.017 | N | 0.171 | 0.048 | 0.216624796971 | gnomAD-4.0.0 | 1.59229E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86069E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.0936 | likely_benign | 0.1036 | benign | -0.869 | Destabilizing | 0.047 | N | 0.177 | neutral | N | 0.472643017 | None | None | N |
| V/C | 0.6263 | likely_pathogenic | 0.66 | pathogenic | -0.668 | Destabilizing | 0.983 | D | 0.333 | neutral | None | None | None | None | N |
| V/D | 0.1819 | likely_benign | 0.1704 | benign | -0.413 | Destabilizing | 0.418 | N | 0.413 | neutral | None | None | None | None | N |
| V/E | 0.131 | likely_benign | 0.1324 | benign | -0.462 | Destabilizing | 0.351 | N | 0.399 | neutral | N | 0.47573925 | None | None | N |
| V/F | 0.1272 | likely_benign | 0.1283 | benign | -0.743 | Destabilizing | 0.716 | D | 0.403 | neutral | None | None | None | None | N |
| V/G | 0.1496 | likely_benign | 0.1557 | benign | -1.098 | Destabilizing | 0.351 | N | 0.381 | neutral | N | 0.461370017 | None | None | N |
| V/H | 0.3203 | likely_benign | 0.3165 | benign | -0.515 | Destabilizing | 0.94 | D | 0.358 | neutral | None | None | None | None | N |
| V/I | 0.0709 | likely_benign | 0.0734 | benign | -0.381 | Destabilizing | 0.002 | N | 0.193 | neutral | None | None | None | None | N |
| V/K | 0.1349 | likely_benign | 0.1289 | benign | -0.71 | Destabilizing | 0.01 | N | 0.249 | neutral | None | None | None | None | N |
| V/L | 0.1229 | likely_benign | 0.1296 | benign | -0.381 | Destabilizing | 0.001 | N | 0.126 | neutral | N | 0.511028046 | None | None | N |
| V/M | 0.078 | likely_benign | 0.0821 | benign | -0.403 | Destabilizing | 0.017 | N | 0.171 | neutral | N | 0.506699662 | None | None | N |
| V/N | 0.1406 | likely_benign | 0.137 | benign | -0.505 | Destabilizing | 0.418 | N | 0.41 | neutral | None | None | None | None | N |
| V/P | 0.7219 | likely_pathogenic | 0.7194 | pathogenic | -0.508 | Destabilizing | 0.94 | D | 0.419 | neutral | None | None | None | None | N |
| V/Q | 0.1483 | likely_benign | 0.1447 | benign | -0.678 | Destabilizing | 0.716 | D | 0.419 | neutral | None | None | None | None | N |
| V/R | 0.1325 | likely_benign | 0.1234 | benign | -0.19 | Destabilizing | 0.002 | N | 0.282 | neutral | None | None | None | None | N |
| V/S | 0.1216 | likely_benign | 0.1254 | benign | -0.969 | Destabilizing | 0.027 | N | 0.253 | neutral | None | None | None | None | N |
| V/T | 0.0911 | likely_benign | 0.0968 | benign | -0.907 | Destabilizing | 0.004 | N | 0.135 | neutral | None | None | None | None | N |
| V/W | 0.6028 | likely_pathogenic | 0.5802 | pathogenic | -0.867 | Destabilizing | 0.983 | D | 0.386 | neutral | None | None | None | None | N |
| V/Y | 0.3833 | ambiguous | 0.3864 | ambiguous | -0.575 | Destabilizing | 0.836 | D | 0.364 | 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.