Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15588 | 46987;46988;46989 | chr2:178618788;178618787;178618786 | chr2:179483515;179483514;179483513 |
| N2AB | 13947 | 42064;42065;42066 | chr2:178618788;178618787;178618786 | chr2:179483515;179483514;179483513 |
| N2A | 13020 | 39283;39284;39285 | chr2:178618788;178618787;178618786 | chr2:179483515;179483514;179483513 |
| N2B | 6523 | 19792;19793;19794 | chr2:178618788;178618787;178618786 | chr2:179483515;179483514;179483513 |
| Novex-1 | 6648 | 20167;20168;20169 | chr2:178618788;178618787;178618786 | chr2:179483515;179483514;179483513 |
| Novex-2 | 6715 | 20368;20369;20370 | chr2:178618788;178618787;178618786 | chr2:179483515;179483514;179483513 |
| 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 | 0.003 | N | 0.175 | 0.142 | 0.463328977263 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 6.33473E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/M | rs768229241  |
-0.391 | 0.655 | N | 0.475 | 0.139 | 0.465721554213 | gnomAD-2.1.1 | 8.1E-06 | None | None | None | None | N | None | 0 | 2.92E-05 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| V/M | rs768229241 |
-0.391 | 0.655 | N | 0.475 | 0.139 | 0.465721554213 | gnomAD-4.0.0 | 4.79013E-06 | None | None | None | None | N | None | 0 | 2.29421E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 2.87043E-05 | 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 | 0.1198 | benign | -1.198 | Destabilizing | 0.003 | N | 0.175 | neutral | N | 0.463795427 | None | None | N |
| V/C | 0.551 | ambiguous | 0.6582 | pathogenic | -0.886 | Destabilizing | 0.94 | D | 0.501 | neutral | None | None | None | None | N |
| V/D | 0.1908 | likely_benign | 0.2351 | benign | -0.826 | Destabilizing | 0.418 | N | 0.521 | neutral | None | None | None | None | N |
| V/E | 0.1596 | likely_benign | 0.1889 | benign | -0.86 | Destabilizing | 0.351 | N | 0.509 | neutral | N | 0.479042106 | None | None | N |
| V/F | 0.1283 | likely_benign | 0.1609 | benign | -0.999 | Destabilizing | 0.716 | D | 0.573 | neutral | None | None | None | None | N |
| V/G | 0.1515 | likely_benign | 0.1925 | benign | -1.469 | Destabilizing | 0.001 | N | 0.391 | neutral | N | 0.465506486 | None | None | N |
| V/H | 0.3107 | likely_benign | 0.3866 | ambiguous | -0.927 | Destabilizing | 0.94 | D | 0.523 | neutral | None | None | None | None | N |
| V/I | 0.0713 | likely_benign | 0.082 | benign | -0.58 | Destabilizing | 0.002 | N | 0.18 | neutral | None | None | None | None | N |
| V/K | 0.2044 | likely_benign | 0.2486 | benign | -0.983 | Destabilizing | 0.418 | N | 0.508 | neutral | None | None | None | None | N |
| V/L | 0.1298 | likely_benign | 0.1694 | benign | -0.58 | Destabilizing | 0.017 | N | 0.27 | neutral | N | 0.48408601 | None | None | N |
| V/M | 0.1036 | likely_benign | 0.136 | benign | -0.473 | Destabilizing | 0.655 | D | 0.475 | neutral | N | 0.485155052 | None | None | N |
| V/N | 0.1234 | likely_benign | 0.1573 | benign | -0.775 | Destabilizing | 0.418 | N | 0.513 | neutral | None | None | None | None | N |
| V/P | 0.6815 | likely_pathogenic | 0.6556 | pathogenic | -0.75 | Destabilizing | 0.593 | D | 0.547 | neutral | None | None | None | None | N |
| V/Q | 0.1888 | likely_benign | 0.2234 | benign | -0.97 | Destabilizing | 0.836 | D | 0.597 | neutral | None | None | None | None | N |
| V/R | 0.2011 | likely_benign | 0.2406 | benign | -0.433 | Destabilizing | 0.418 | N | 0.585 | neutral | None | None | None | None | N |
| V/S | 0.0988 | likely_benign | 0.1277 | benign | -1.283 | Destabilizing | 0.004 | N | 0.309 | neutral | None | None | None | None | N |
| V/T | 0.0827 | likely_benign | 0.1034 | benign | -1.206 | Destabilizing | 0.004 | N | 0.193 | neutral | None | None | None | None | N |
| V/W | 0.6447 | likely_pathogenic | 0.7343 | pathogenic | -1.128 | Destabilizing | 0.983 | D | 0.545 | neutral | None | None | None | None | N |
| V/Y | 0.359 | ambiguous | 0.4319 | ambiguous | -0.838 | Destabilizing | 0.836 | D | 0.541 | 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.