Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22005 | 66238;66239;66240 | chr2:178582443;178582442;178582441 | chr2:179447170;179447169;179447168 |
| N2AB | 20364 | 61315;61316;61317 | chr2:178582443;178582442;178582441 | chr2:179447170;179447169;179447168 |
| N2A | 19437 | 58534;58535;58536 | chr2:178582443;178582442;178582441 | chr2:179447170;179447169;179447168 |
| N2B | 12940 | 39043;39044;39045 | chr2:178582443;178582442;178582441 | chr2:179447170;179447169;179447168 |
| Novex-1 | 13065 | 39418;39419;39420 | chr2:178582443;178582442;178582441 | chr2:179447170;179447169;179447168 |
| Novex-2 | 13132 | 39619;39620;39621 | chr2:178582443;178582442;178582441 | chr2:179447170;179447169;179447168 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/H | rs747951231  |
-0.405 | 0.954 | N | 0.493 | 0.263 | 0.232513804876 | gnomAD-2.1.1 | 4.44E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.26883E-04 | None | 0 | 8.92E-06 | 0 |
| Q/H | rs747951231 |
-0.405 | 0.954 | N | 0.493 | 0.263 | 0.232513804876 | gnomAD-4.0.0 | 3.21742E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59899E-06 | 4.98736E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.327 | likely_benign | 0.3183 | benign | -0.366 | Destabilizing | 0.209 | N | 0.399 | neutral | None | None | None | None | N |
| Q/C | 0.8554 | likely_pathogenic | 0.8629 | pathogenic | 0.149 | Stabilizing | 0.991 | D | 0.469 | neutral | None | None | None | None | N |
| Q/D | 0.9072 | likely_pathogenic | 0.9223 | pathogenic | -0.089 | Destabilizing | 0.561 | D | 0.37 | neutral | None | None | None | None | N |
| Q/E | 0.2028 | likely_benign | 0.2227 | benign | -0.097 | Destabilizing | 0.285 | N | 0.403 | neutral | N | 0.436686924 | None | None | N |
| Q/F | 0.926 | likely_pathogenic | 0.922 | pathogenic | -0.443 | Destabilizing | 0.818 | D | 0.501 | neutral | None | None | None | None | N |
| Q/G | 0.7011 | likely_pathogenic | 0.6863 | pathogenic | -0.596 | Destabilizing | 0.561 | D | 0.481 | neutral | None | None | None | None | N |
| Q/H | 0.6788 | likely_pathogenic | 0.68 | pathogenic | -0.512 | Destabilizing | 0.954 | D | 0.493 | neutral | N | 0.51622793 | None | None | N |
| Q/I | 0.5022 | ambiguous | 0.4959 | ambiguous | 0.162 | Stabilizing | 0.39 | N | 0.495 | neutral | None | None | None | None | N |
| Q/K | 0.2045 | likely_benign | 0.2538 | benign | -0.027 | Destabilizing | 0.166 | N | 0.413 | neutral | N | 0.415277076 | None | None | N |
| Q/L | 0.2514 | likely_benign | 0.2264 | benign | 0.162 | Stabilizing | None | N | 0.276 | neutral | N | 0.42709158 | None | None | N |
| Q/M | 0.4373 | ambiguous | 0.4079 | ambiguous | 0.529 | Stabilizing | 0.818 | D | 0.481 | neutral | None | None | None | None | N |
| Q/N | 0.6683 | likely_pathogenic | 0.6773 | pathogenic | -0.417 | Destabilizing | 0.561 | D | 0.357 | neutral | None | None | None | None | N |
| Q/P | 0.3133 | likely_benign | 0.2781 | benign | 0.015 | Stabilizing | 0.662 | D | 0.528 | neutral | N | 0.450005725 | None | None | N |
| Q/R | 0.2418 | likely_benign | 0.2878 | benign | 0.13 | Stabilizing | 0.003 | N | 0.187 | neutral | N | 0.453891392 | None | None | N |
| Q/S | 0.5333 | ambiguous | 0.5001 | ambiguous | -0.436 | Destabilizing | 0.209 | N | 0.402 | neutral | None | None | None | None | N |
| Q/T | 0.3661 | ambiguous | 0.3583 | ambiguous | -0.276 | Destabilizing | 0.002 | N | 0.248 | neutral | None | None | None | None | N |
| Q/V | 0.2934 | likely_benign | 0.2912 | benign | 0.015 | Stabilizing | 0.209 | N | 0.446 | neutral | None | None | None | None | N |
| Q/W | 0.93 | likely_pathogenic | 0.9367 | pathogenic | -0.36 | Destabilizing | 0.991 | D | 0.481 | neutral | None | None | None | None | N |
| Q/Y | 0.8905 | likely_pathogenic | 0.8882 | pathogenic | -0.131 | Destabilizing | 0.965 | D | 0.529 | 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.