Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14871 | 44836;44837;44838 | chr2:178624669;178624668;178624667 | chr2:179489396;179489395;179489394 |
| N2AB | 13230 | 39913;39914;39915 | chr2:178624669;178624668;178624667 | chr2:179489396;179489395;179489394 |
| N2A | 12303 | 37132;37133;37134 | chr2:178624669;178624668;178624667 | chr2:179489396;179489395;179489394 |
| N2B | 5806 | 17641;17642;17643 | chr2:178624669;178624668;178624667 | chr2:179489396;179489395;179489394 |
| Novex-1 | 5931 | 18016;18017;18018 | chr2:178624669;178624668;178624667 | chr2:179489396;179489395;179489394 |
| Novex-2 | 5998 | 18217;18218;18219 | chr2:178624669;178624668;178624667 | chr2:179489396;179489395;179489394 |
| 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 | rs2058765049  |
None | 0.625 | N | 0.521 | 0.185 | 0.287603790349 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/A | rs2058765049 |
None | 0.625 | N | 0.521 | 0.185 | 0.287603790349 | gnomAD-4.0.0 | 2.03041E-06 | None | None | None | None | N | None | 1.74825E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.2051E-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 | 0.2824 | likely_benign | 0.2974 | benign | -1.096 | Destabilizing | 0.625 | D | 0.521 | neutral | N | 0.329320186 | None | None | N |
| V/C | 0.8051 | likely_pathogenic | 0.8308 | pathogenic | -0.803 | Destabilizing | 0.998 | D | 0.529 | neutral | None | None | None | None | N |
| V/D | 0.466 | ambiguous | 0.4527 | ambiguous | -0.94 | Destabilizing | 0.728 | D | 0.559 | neutral | None | None | None | None | N |
| V/E | 0.2802 | likely_benign | 0.2634 | benign | -0.975 | Destabilizing | 0.051 | N | 0.463 | neutral | N | 0.350905675 | None | None | N |
| V/F | 0.193 | likely_benign | 0.1943 | benign | -0.871 | Destabilizing | 0.949 | D | 0.543 | neutral | None | None | None | None | N |
| V/G | 0.381 | ambiguous | 0.3847 | ambiguous | -1.359 | Destabilizing | 0.891 | D | 0.566 | neutral | N | 0.391554274 | None | None | N |
| V/H | 0.629 | likely_pathogenic | 0.6372 | pathogenic | -0.847 | Destabilizing | 0.998 | D | 0.636 | neutral | None | None | None | None | N |
| V/I | 0.0819 | likely_benign | 0.0841 | benign | -0.496 | Destabilizing | 0.016 | N | 0.305 | neutral | None | None | None | None | N |
| V/K | 0.438 | ambiguous | 0.421 | ambiguous | -1.093 | Destabilizing | 0.842 | D | 0.543 | neutral | None | None | None | None | N |
| V/L | 0.2152 | likely_benign | 0.22 | benign | -0.496 | Destabilizing | 0.454 | N | 0.493 | neutral | N | 0.345074059 | None | None | N |
| V/M | 0.1606 | likely_benign | 0.1587 | benign | -0.431 | Destabilizing | 0.934 | D | 0.557 | neutral | N | 0.330026194 | None | None | N |
| V/N | 0.3603 | ambiguous | 0.3594 | ambiguous | -0.859 | Destabilizing | 0.974 | D | 0.62 | neutral | None | None | None | None | N |
| V/P | 0.9158 | likely_pathogenic | 0.9267 | pathogenic | -0.66 | Destabilizing | 0.991 | D | 0.585 | neutral | None | None | None | None | N |
| V/Q | 0.3725 | ambiguous | 0.3642 | ambiguous | -1.041 | Destabilizing | 0.949 | D | 0.594 | neutral | None | None | None | None | N |
| V/R | 0.4002 | ambiguous | 0.3931 | ambiguous | -0.527 | Destabilizing | 0.949 | D | 0.628 | neutral | None | None | None | None | N |
| V/S | 0.2969 | likely_benign | 0.2985 | benign | -1.301 | Destabilizing | 0.728 | D | 0.549 | neutral | None | None | None | None | N |
| V/T | 0.1892 | likely_benign | 0.1929 | benign | -1.23 | Destabilizing | 0.029 | N | 0.325 | neutral | None | None | None | None | N |
| V/W | 0.8548 | likely_pathogenic | 0.8641 | pathogenic | -1.033 | Destabilizing | 0.998 | D | 0.679 | prob.neutral | None | None | None | None | N |
| V/Y | 0.6219 | likely_pathogenic | 0.6224 | pathogenic | -0.753 | Destabilizing | 0.991 | D | 0.544 | 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.