Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28560 | 85903;85904;85905 | chr2:178560454;178560453;178560452 | chr2:179425181;179425180;179425179 |
| N2AB | 26919 | 80980;80981;80982 | chr2:178560454;178560453;178560452 | chr2:179425181;179425180;179425179 |
| N2A | 25992 | 78199;78200;78201 | chr2:178560454;178560453;178560452 | chr2:179425181;179425180;179425179 |
| N2B | 19495 | 58708;58709;58710 | chr2:178560454;178560453;178560452 | chr2:179425181;179425180;179425179 |
| Novex-1 | 19620 | 59083;59084;59085 | chr2:178560454;178560453;178560452 | chr2:179425181;179425180;179425179 |
| Novex-2 | 19687 | 59284;59285;59286 | chr2:178560454;178560453;178560452 | chr2:179425181;179425180;179425179 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | rs748636733  |
-0.583 | 0.999 | N | 0.553 | 0.485 | 0.41337360676 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| T/A | rs748636733 |
-0.583 | 0.999 | N | 0.553 | 0.485 | 0.41337360676 | gnomAD-4.0.0 | 1.59183E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85856E-06 | 0 | 0 |
| T/S | rs1703208399 |
None | 0.999 | N | 0.554 | 0.292 | 0.330589388543 | gnomAD-4.0.0 | 1.59182E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85851E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.1832 | likely_benign | 0.1436 | benign | -0.748 | Destabilizing | 0.999 | D | 0.553 | neutral | N | 0.476866194 | None | None | N |
| T/C | 0.6537 | likely_pathogenic | 0.6047 | pathogenic | -0.432 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | N |
| T/D | 0.7623 | likely_pathogenic | 0.6778 | pathogenic | -0.106 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| T/E | 0.7158 | likely_pathogenic | 0.6228 | pathogenic | -0.133 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| T/F | 0.5353 | ambiguous | 0.4196 | ambiguous | -0.98 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | N |
| T/G | 0.4405 | ambiguous | 0.3832 | ambiguous | -0.969 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | N |
| T/H | 0.5633 | ambiguous | 0.4343 | ambiguous | -1.288 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| T/I | 0.3922 | ambiguous | 0.3034 | benign | -0.264 | Destabilizing | 1.0 | D | 0.8 | deleterious | N | 0.503109491 | None | None | N |
| T/K | 0.5405 | ambiguous | 0.4398 | ambiguous | -0.646 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| T/L | 0.2085 | likely_benign | 0.1636 | benign | -0.264 | Destabilizing | 0.999 | D | 0.703 | prob.neutral | None | None | None | None | N |
| T/M | 0.167 | likely_benign | 0.1363 | benign | 0.076 | Stabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | N |
| T/N | 0.281 | likely_benign | 0.2104 | benign | -0.531 | Destabilizing | 1.0 | D | 0.7 | prob.neutral | N | 0.490210736 | None | None | N |
| T/P | 0.5185 | ambiguous | 0.4395 | ambiguous | -0.394 | Destabilizing | 1.0 | D | 0.805 | deleterious | N | 0.507594202 | None | None | N |
| T/Q | 0.5206 | ambiguous | 0.4251 | ambiguous | -0.739 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | N |
| T/R | 0.494 | ambiguous | 0.386 | ambiguous | -0.385 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| T/S | 0.1758 | likely_benign | 0.1423 | benign | -0.803 | Destabilizing | 0.999 | D | 0.554 | neutral | N | 0.458142419 | None | None | N |
| T/V | 0.28 | likely_benign | 0.2329 | benign | -0.394 | Destabilizing | 0.999 | D | 0.629 | neutral | None | None | None | None | N |
| T/W | 0.8853 | likely_pathogenic | 0.8224 | pathogenic | -0.907 | Destabilizing | 1.0 | D | 0.748 | deleterious | None | None | None | None | N |
| T/Y | 0.6222 | likely_pathogenic | 0.493 | ambiguous | -0.668 | Destabilizing | 1.0 | D | 0.779 | 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.