Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33511 | 100756;100757;100758 | chr2:178536216;178536215;178536214 | chr2:179400943;179400942;179400941 |
| N2AB | 31870 | 95833;95834;95835 | chr2:178536216;178536215;178536214 | chr2:179400943;179400942;179400941 |
| N2A | 30943 | 93052;93053;93054 | chr2:178536216;178536215;178536214 | chr2:179400943;179400942;179400941 |
| N2B | 24446 | 73561;73562;73563 | chr2:178536216;178536215;178536214 | chr2:179400943;179400942;179400941 |
| Novex-1 | 24571 | 73936;73937;73938 | chr2:178536216;178536215;178536214 | chr2:179400943;179400942;179400941 |
| Novex-2 | 24638 | 74137;74138;74139 | chr2:178536216;178536215;178536214 | chr2:179400943;179400942;179400941 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/N | None | None | 0.219 | N | 0.516 | 0.21 | 0.289847578895 | gnomAD-4.0.0 | 2.40065E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.62501E-06 | 0 | 0 |
| S/R | None | None | 0.985 | N | 0.41 | 0.489 | 0.394837016283 | gnomAD-4.0.0 | 3.60098E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.93752E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1274 | likely_benign | 0.0977 | benign | -0.612 | Destabilizing | None | N | 0.176 | neutral | None | None | None | None | N |
| S/C | 0.2723 | likely_benign | 0.1909 | benign | -0.438 | Destabilizing | 0.995 | D | 0.427 | neutral | D | 0.571600774 | None | None | N |
| S/D | 0.7993 | likely_pathogenic | 0.6693 | pathogenic | -0.161 | Destabilizing | 0.865 | D | 0.472 | neutral | None | None | None | None | N |
| S/E | 0.843 | likely_pathogenic | 0.7436 | pathogenic | -0.233 | Destabilizing | 0.816 | D | 0.445 | neutral | None | None | None | None | N |
| S/F | 0.7279 | likely_pathogenic | 0.6186 | pathogenic | -1.106 | Destabilizing | 0.988 | D | 0.469 | neutral | None | None | None | None | N |
| S/G | 0.128 | likely_benign | 0.0916 | benign | -0.758 | Destabilizing | 0.006 | N | 0.178 | neutral | N | 0.480967003 | None | None | N |
| S/H | 0.7491 | likely_pathogenic | 0.648 | pathogenic | -1.316 | Destabilizing | 0.999 | D | 0.43 | neutral | None | None | None | None | N |
| S/I | 0.6986 | likely_pathogenic | 0.5975 | pathogenic | -0.345 | Destabilizing | 0.969 | D | 0.438 | neutral | D | 0.567020656 | None | None | N |
| S/K | 0.9585 | likely_pathogenic | 0.9058 | pathogenic | -0.624 | Destabilizing | 0.922 | D | 0.455 | neutral | None | None | None | None | N |
| S/L | 0.4034 | ambiguous | 0.3191 | benign | -0.345 | Destabilizing | 0.922 | D | 0.407 | neutral | None | None | None | None | N |
| S/M | 0.4133 | ambiguous | 0.3462 | ambiguous | 0.064 | Stabilizing | 0.999 | D | 0.43 | neutral | None | None | None | None | N |
| S/N | 0.3089 | likely_benign | 0.1931 | benign | -0.425 | Destabilizing | 0.219 | N | 0.516 | neutral | N | 0.501862351 | None | None | N |
| S/P | 0.9906 | likely_pathogenic | 0.9832 | pathogenic | -0.405 | Destabilizing | 0.958 | D | 0.417 | neutral | None | None | None | None | N |
| S/Q | 0.752 | likely_pathogenic | 0.6421 | pathogenic | -0.73 | Destabilizing | 0.988 | D | 0.461 | neutral | None | None | None | None | N |
| S/R | 0.9481 | likely_pathogenic | 0.8954 | pathogenic | -0.402 | Destabilizing | 0.985 | D | 0.41 | neutral | N | 0.504156616 | None | None | N |
| S/T | 0.1809 | likely_benign | 0.1344 | benign | -0.526 | Destabilizing | 0.219 | N | 0.462 | neutral | N | 0.505716002 | None | None | N |
| S/V | 0.5667 | likely_pathogenic | 0.4642 | ambiguous | -0.405 | Destabilizing | 0.689 | D | 0.412 | neutral | None | None | None | None | N |
| S/W | 0.8706 | likely_pathogenic | 0.8211 | pathogenic | -1.045 | Destabilizing | 0.999 | D | 0.571 | neutral | None | None | None | None | N |
| S/Y | 0.6664 | likely_pathogenic | 0.5527 | ambiguous | -0.79 | Destabilizing | 0.996 | D | 0.466 | 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.