Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32141 | 96646;96647;96648 | chr2:178543552;178543551;178543550 | chr2:179408279;179408278;179408277 |
| N2AB | 30500 | 91723;91724;91725 | chr2:178543552;178543551;178543550 | chr2:179408279;179408278;179408277 |
| N2A | 29573 | 88942;88943;88944 | chr2:178543552;178543551;178543550 | chr2:179408279;179408278;179408277 |
| N2B | 23076 | 69451;69452;69453 | chr2:178543552;178543551;178543550 | chr2:179408279;179408278;179408277 |
| Novex-1 | 23201 | 69826;69827;69828 | chr2:178543552;178543551;178543550 | chr2:179408279;179408278;179408277 |
| Novex-2 | 23268 | 70027;70028;70029 | chr2:178543552;178543551;178543550 | chr2:179408279;179408278;179408277 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/L | None | None | 0.983 | N | 0.409 | 0.171 | 0.593771126905 | gnomAD-4.0.0 | 6.85147E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15966E-05 | 0 |
| I/N | rs753559586  |
None | 1.0 | N | 0.795 | 0.512 | 0.828995217034 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/N | rs753559586 |
None | 1.0 | N | 0.795 | 0.512 | 0.828995217034 | gnomAD-4.0.0 | 4.05964E-06 | None | None | None | None | N | None | 1.74672E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 3.61476E-06 | 0 | 0 |
| I/V | rs794729249 |
None | 0.987 | N | 0.419 | 0.115 | 0.554518586217 | gnomAD-4.0.0 | 8.90692E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.52258E-05 | None | 0 | 0 | 8.99518E-06 | 0 | 3.31488E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.8018 | likely_pathogenic | 0.7109 | pathogenic | -2.62 | Highly Destabilizing | 1.0 | D | 0.603 | neutral | None | None | None | None | N |
| I/C | 0.9027 | likely_pathogenic | 0.8629 | pathogenic | -2.049 | Highly Destabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | N |
| I/D | 0.9928 | likely_pathogenic | 0.9881 | pathogenic | -3.16 | Highly Destabilizing | 1.0 | D | 0.766 | deleterious | None | None | None | None | N |
| I/E | 0.9747 | likely_pathogenic | 0.9579 | pathogenic | -3.009 | Highly Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| I/F | 0.5459 | ambiguous | 0.4582 | ambiguous | -1.607 | Destabilizing | 1.0 | D | 0.758 | deleterious | N | 0.46797497 | None | None | N |
| I/G | 0.9811 | likely_pathogenic | 0.9656 | pathogenic | -3.087 | Highly Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | N |
| I/H | 0.9018 | likely_pathogenic | 0.8496 | pathogenic | -2.386 | Highly Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| I/K | 0.9115 | likely_pathogenic | 0.8563 | pathogenic | -2.032 | Highly Destabilizing | 0.999 | D | 0.766 | deleterious | None | None | None | None | N |
| I/L | 0.303 | likely_benign | 0.2653 | benign | -1.292 | Destabilizing | 0.983 | D | 0.409 | neutral | N | 0.486867816 | None | None | N |
| I/M | 0.3055 | likely_benign | 0.251 | benign | -1.279 | Destabilizing | 1.0 | D | 0.771 | deleterious | N | 0.500829345 | None | None | N |
| I/N | 0.9117 | likely_pathogenic | 0.8633 | pathogenic | -2.249 | Highly Destabilizing | 1.0 | D | 0.795 | deleterious | N | 0.464060949 | None | None | N |
| I/P | 0.9944 | likely_pathogenic | 0.9929 | pathogenic | -1.714 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| I/Q | 0.9323 | likely_pathogenic | 0.8876 | pathogenic | -2.256 | Highly Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| I/R | 0.8379 | likely_pathogenic | 0.7463 | pathogenic | -1.532 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| I/S | 0.8458 | likely_pathogenic | 0.7513 | pathogenic | -2.873 | Highly Destabilizing | 1.0 | D | 0.713 | prob.delet. | N | 0.467566442 | None | None | N |
| I/T | 0.5226 | ambiguous | 0.3688 | ambiguous | -2.599 | Highly Destabilizing | 1.0 | D | 0.719 | prob.delet. | N | 0.493793788 | None | None | N |
| I/V | 0.0855 | likely_benign | 0.0804 | benign | -1.714 | Destabilizing | 0.987 | D | 0.419 | neutral | N | 0.48074992 | None | None | N |
| I/W | 0.9553 | likely_pathogenic | 0.9412 | pathogenic | -1.944 | Destabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | N |
| I/Y | 0.8829 | likely_pathogenic | 0.8478 | pathogenic | -1.723 | Destabilizing | 1.0 | D | 0.755 | deleterious | 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.