Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28899 | 86920;86921;86922 | chr2:178559437;178559436;178559435 | chr2:179424164;179424163;179424162 |
| N2AB | 27258 | 81997;81998;81999 | chr2:178559437;178559436;178559435 | chr2:179424164;179424163;179424162 |
| N2A | 26331 | 79216;79217;79218 | chr2:178559437;178559436;178559435 | chr2:179424164;179424163;179424162 |
| N2B | 19834 | 59725;59726;59727 | chr2:178559437;178559436;178559435 | chr2:179424164;179424163;179424162 |
| Novex-1 | 19959 | 60100;60101;60102 | chr2:178559437;178559436;178559435 | chr2:179424164;179424163;179424162 |
| Novex-2 | 20026 | 60301;60302;60303 | chr2:178559437;178559436;178559435 | chr2:179424164;179424163;179424162 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/G | None | None | 0.906 | N | 0.729 | 0.391 | 0.773852624734 | gnomAD-4.0.0 | 3.18291E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.54662E-05 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.7408 | likely_pathogenic | 0.7194 | pathogenic | -1.794 | Destabilizing | 0.935 | D | 0.591 | neutral | None | None | None | None | N |
| C/D | 0.9767 | likely_pathogenic | 0.9729 | pathogenic | -1.234 | Destabilizing | 0.999 | D | 0.749 | deleterious | None | None | None | None | N |
| C/E | 0.9838 | likely_pathogenic | 0.9815 | pathogenic | -1.018 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| C/F | 0.6923 | likely_pathogenic | 0.7011 | pathogenic | -1.186 | Destabilizing | 1.0 | D | 0.732 | prob.delet. | N | 0.470354826 | None | None | N |
| C/G | 0.5438 | ambiguous | 0.5392 | ambiguous | -2.16 | Highly Destabilizing | 0.906 | D | 0.729 | prob.delet. | N | 0.500428972 | None | None | N |
| C/H | 0.9191 | likely_pathogenic | 0.9174 | pathogenic | -2.376 | Highly Destabilizing | 0.999 | D | 0.788 | deleterious | None | None | None | None | N |
| C/I | 0.7213 | likely_pathogenic | 0.7048 | pathogenic | -0.809 | Destabilizing | 0.999 | D | 0.661 | neutral | None | None | None | None | N |
| C/K | 0.9879 | likely_pathogenic | 0.9872 | pathogenic | -1.037 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| C/L | 0.7617 | likely_pathogenic | 0.7719 | pathogenic | -0.809 | Destabilizing | 0.998 | D | 0.605 | neutral | None | None | None | None | N |
| C/M | 0.8593 | likely_pathogenic | 0.8568 | pathogenic | 0.183 | Stabilizing | 1.0 | D | 0.675 | prob.neutral | None | None | None | None | N |
| C/N | 0.8554 | likely_pathogenic | 0.8394 | pathogenic | -1.528 | Destabilizing | 0.765 | D | 0.565 | neutral | None | None | None | None | N |
| C/P | 0.9765 | likely_pathogenic | 0.9743 | pathogenic | -1.113 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | N |
| C/Q | 0.9452 | likely_pathogenic | 0.9411 | pathogenic | -1.13 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| C/R | 0.9298 | likely_pathogenic | 0.9242 | pathogenic | -1.388 | Destabilizing | 1.0 | D | 0.785 | deleterious | N | 0.468652398 | None | None | N |
| C/S | 0.5735 | likely_pathogenic | 0.5505 | ambiguous | -1.901 | Destabilizing | 0.93 | D | 0.602 | neutral | N | 0.485750308 | None | None | N |
| C/T | 0.7386 | likely_pathogenic | 0.7075 | pathogenic | -1.486 | Destabilizing | 0.971 | D | 0.645 | neutral | None | None | None | None | N |
| C/V | 0.628 | likely_pathogenic | 0.6067 | pathogenic | -1.113 | Destabilizing | 0.99 | D | 0.644 | neutral | None | None | None | None | N |
| C/W | 0.8902 | likely_pathogenic | 0.8954 | pathogenic | -1.472 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | N | 0.484825004 | None | None | N |
| C/Y | 0.8157 | likely_pathogenic | 0.8226 | pathogenic | -1.315 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | N | 0.500047757 | 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.