Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2304 | 7135;7136;7137 | chr2:178774354;178774353;178774352 | chr2:179639081;179639080;179639079 |
| N2AB | 2304 | 7135;7136;7137 | chr2:178774354;178774353;178774352 | chr2:179639081;179639080;179639079 |
| N2A | 2304 | 7135;7136;7137 | chr2:178774354;178774353;178774352 | chr2:179639081;179639080;179639079 |
| N2B | 2258 | 6997;6998;6999 | chr2:178774354;178774353;178774352 | chr2:179639081;179639080;179639079 |
| Novex-1 | 2258 | 6997;6998;6999 | chr2:178774354;178774353;178774352 | chr2:179639081;179639080;179639079 |
| Novex-2 | 2258 | 6997;6998;6999 | chr2:178774354;178774353;178774352 | chr2:179639081;179639080;179639079 |
| Novex-3 | 2304 | 7135;7136;7137 | chr2:178774354;178774353;178774352 | chr2:179639081;179639080;179639079 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/M | rs1412860664  |
-0.208 | 0.989 | D | 0.372 | 0.18 | 0.431490205687 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | N | None | 6.15E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/M | rs1412860664 |
-0.208 | 0.989 | D | 0.372 | 0.18 | 0.431490205687 | gnomAD-4.0.0 | 3.18128E-06 | None | None | None | None | N | None | 5.65419E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85687E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.1128 | likely_benign | 0.1065 | benign | -1.1 | Destabilizing | 0.454 | N | 0.252 | neutral | N | 0.498131477 | None | None | N |
| V/C | 0.6107 | likely_pathogenic | 0.6101 | pathogenic | -0.494 | Destabilizing | 0.998 | D | 0.368 | neutral | None | None | None | None | N |
| V/D | 0.2116 | likely_benign | 0.1868 | benign | -0.881 | Destabilizing | 0.842 | D | 0.396 | neutral | None | None | None | None | N |
| V/E | 0.1511 | likely_benign | 0.1397 | benign | -0.929 | Destabilizing | 0.801 | D | 0.359 | neutral | N | 0.499812953 | None | None | N |
| V/F | 0.1402 | likely_benign | 0.1313 | benign | -0.995 | Destabilizing | 0.974 | D | 0.382 | neutral | None | None | None | None | N |
| V/G | 0.1826 | likely_benign | 0.167 | benign | -1.345 | Destabilizing | 0.801 | D | 0.375 | neutral | D | 0.582517232 | None | None | N |
| V/H | 0.3184 | likely_benign | 0.3042 | benign | -0.893 | Destabilizing | 0.998 | D | 0.402 | neutral | None | None | None | None | N |
| V/I | 0.0673 | likely_benign | 0.0657 | benign | -0.553 | Destabilizing | 0.842 | D | 0.33 | neutral | None | None | None | None | N |
| V/K | 0.1305 | likely_benign | 0.1222 | benign | -0.873 | Destabilizing | 0.01 | N | 0.179 | neutral | None | None | None | None | N |
| V/L | 0.1512 | likely_benign | 0.1496 | benign | -0.553 | Destabilizing | 0.454 | N | 0.323 | neutral | N | 0.507709958 | None | None | N |
| V/M | 0.0887 | likely_benign | 0.0852 | benign | -0.349 | Destabilizing | 0.989 | D | 0.372 | neutral | D | 0.540494932 | None | None | N |
| V/N | 0.1342 | likely_benign | 0.1266 | benign | -0.55 | Destabilizing | 0.842 | D | 0.418 | neutral | None | None | None | None | N |
| V/P | 0.8901 | likely_pathogenic | 0.8763 | pathogenic | -0.7 | Destabilizing | 0.974 | D | 0.401 | neutral | None | None | None | None | N |
| V/Q | 0.1511 | likely_benign | 0.1434 | benign | -0.762 | Destabilizing | 0.949 | D | 0.397 | neutral | None | None | None | None | N |
| V/R | 0.1359 | likely_benign | 0.128 | benign | -0.316 | Destabilizing | 0.728 | D | 0.413 | neutral | None | None | None | None | N |
| V/S | 0.1255 | likely_benign | 0.1217 | benign | -0.963 | Destabilizing | 0.728 | D | 0.363 | neutral | None | None | None | None | N |
| V/T | 0.0852 | likely_benign | 0.0841 | benign | -0.911 | Destabilizing | 0.029 | N | 0.127 | neutral | None | None | None | None | N |
| V/W | 0.6983 | likely_pathogenic | 0.6727 | pathogenic | -1.154 | Destabilizing | 0.998 | D | 0.435 | neutral | None | None | None | None | N |
| V/Y | 0.4056 | ambiguous | 0.392 | ambiguous | -0.867 | Destabilizing | 0.991 | D | 0.383 | 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.