Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28395 | 85408;85409;85410 | chr2:178560949;178560948;178560947 | chr2:179425676;179425675;179425674 |
| N2AB | 26754 | 80485;80486;80487 | chr2:178560949;178560948;178560947 | chr2:179425676;179425675;179425674 |
| N2A | 25827 | 77704;77705;77706 | chr2:178560949;178560948;178560947 | chr2:179425676;179425675;179425674 |
| N2B | 19330 | 58213;58214;58215 | chr2:178560949;178560948;178560947 | chr2:179425676;179425675;179425674 |
| Novex-1 | 19455 | 58588;58589;58590 | chr2:178560949;178560948;178560947 | chr2:179425676;179425675;179425674 |
| Novex-2 | 19522 | 58789;58790;58791 | chr2:178560949;178560948;178560947 | chr2:179425676;179425675;179425674 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/S | None | None | 0.997 | N | 0.695 | 0.487 | 0.323615622048 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| G/V | rs2154159192  |
None | 0.995 | D | 0.733 | 0.455 | 0.657895878264 | gnomAD-4.0.0 | 1.36844E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99454E-07 | 0 | 1.65662E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.3642 | ambiguous | 0.3158 | benign | -0.255 | Destabilizing | 0.983 | D | 0.515 | neutral | D | 0.530971014 | None | None | I |
| G/C | 0.3896 | ambiguous | 0.3307 | benign | -0.98 | Destabilizing | 0.652 | D | 0.595 | neutral | D | 0.531984972 | None | None | I |
| G/D | 0.245 | likely_benign | 0.206 | benign | -0.546 | Destabilizing | 1.0 | D | 0.676 | prob.neutral | N | 0.491617487 | None | None | I |
| G/E | 0.35 | ambiguous | 0.2889 | benign | -0.702 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | I |
| G/F | 0.8562 | likely_pathogenic | 0.8139 | pathogenic | -0.976 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | I |
| G/H | 0.5363 | ambiguous | 0.4635 | ambiguous | -0.355 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | I |
| G/I | 0.7009 | likely_pathogenic | 0.6026 | pathogenic | -0.47 | Destabilizing | 0.998 | D | 0.764 | deleterious | None | None | None | None | I |
| G/K | 0.5593 | ambiguous | 0.4786 | ambiguous | -0.743 | Destabilizing | 0.999 | D | 0.739 | prob.delet. | None | None | None | None | I |
| G/L | 0.7827 | likely_pathogenic | 0.7308 | pathogenic | -0.47 | Destabilizing | 0.996 | D | 0.728 | prob.delet. | None | None | None | None | I |
| G/M | 0.7535 | likely_pathogenic | 0.6964 | pathogenic | -0.632 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | I |
| G/N | 0.2586 | likely_benign | 0.2391 | benign | -0.457 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | None | None | None | None | I |
| G/P | 0.9799 | likely_pathogenic | 0.9709 | pathogenic | -0.371 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | I |
| G/Q | 0.4398 | ambiguous | 0.378 | ambiguous | -0.712 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | I |
| G/R | 0.4187 | ambiguous | 0.3399 | benign | -0.315 | Destabilizing | 1.0 | D | 0.745 | deleterious | N | 0.50784033 | None | None | I |
| G/S | 0.1524 | likely_benign | 0.1377 | benign | -0.604 | Destabilizing | 0.997 | D | 0.695 | prob.neutral | N | 0.499824932 | None | None | I |
| G/T | 0.4018 | ambiguous | 0.3463 | ambiguous | -0.691 | Destabilizing | 0.998 | D | 0.713 | prob.delet. | None | None | None | None | I |
| G/V | 0.6081 | likely_pathogenic | 0.51 | ambiguous | -0.371 | Destabilizing | 0.995 | D | 0.733 | prob.delet. | D | 0.531984972 | None | None | I |
| G/W | 0.7202 | likely_pathogenic | 0.6339 | pathogenic | -1.097 | Destabilizing | 1.0 | D | 0.754 | deleterious | None | None | None | None | I |
| G/Y | 0.7028 | likely_pathogenic | 0.6267 | pathogenic | -0.779 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | I |
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.