Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18177 | 54754;54755;54756 | chr2:178604158;178604157;178604156 | chr2:179468885;179468884;179468883 |
| N2AB | 16536 | 49831;49832;49833 | chr2:178604158;178604157;178604156 | chr2:179468885;179468884;179468883 |
| N2A | 15609 | 47050;47051;47052 | chr2:178604158;178604157;178604156 | chr2:179468885;179468884;179468883 |
| N2B | 9112 | 27559;27560;27561 | chr2:178604158;178604157;178604156 | chr2:179468885;179468884;179468883 |
| Novex-1 | 9237 | 27934;27935;27936 | chr2:178604158;178604157;178604156 | chr2:179468885;179468884;179468883 |
| Novex-2 | 9304 | 28135;28136;28137 | chr2:178604158;178604157;178604156 | chr2:179468885;179468884;179468883 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/P | rs373546809  |
-0.4 | 0.003 | N | 0.316 | 0.164 | None | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 6.47E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/P | rs373546809 |
-0.4 | 0.003 | N | 0.316 | 0.164 | None | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/P | rs373546809 |
-0.4 | 0.003 | N | 0.316 | 0.164 | None | gnomAD-4.0.0 | 6.58233E-06 | None | None | None | None | N | None | 2.41604E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | None | None | 0.001 | N | 0.243 | 0.143 | 0.21279746466 | gnomAD-4.0.0 | 1.59486E-06 | None | None | None | None | N | None | 0 | 2.29053E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/V | None | None | 0.001 | N | 0.288 | 0.13 | 0.234412748748 | gnomAD-4.0.0 | 1.59478E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86467E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.3858 | ambiguous | 0.3381 | benign | -0.86 | Destabilizing | 0.316 | N | 0.423 | neutral | None | None | None | None | N |
| A/D | 0.1817 | likely_benign | 0.1298 | benign | -0.609 | Destabilizing | None | N | 0.215 | neutral | None | None | None | None | N |
| A/E | 0.1039 | likely_benign | 0.0964 | benign | -0.706 | Destabilizing | None | N | 0.149 | neutral | N | 0.402211778 | None | None | N |
| A/F | 0.3599 | ambiguous | 0.2765 | benign | -0.861 | Destabilizing | 0.051 | N | 0.477 | neutral | None | None | None | None | N |
| A/G | 0.1158 | likely_benign | 0.0923 | benign | -0.724 | Destabilizing | 0.001 | N | 0.203 | neutral | N | 0.476229534 | None | None | N |
| A/H | 0.3243 | likely_benign | 0.2721 | benign | -0.747 | Destabilizing | 0.018 | N | 0.463 | neutral | None | None | None | None | N |
| A/I | 0.3044 | likely_benign | 0.2468 | benign | -0.311 | Destabilizing | 0.008 | N | 0.373 | neutral | None | None | None | None | N |
| A/K | 0.3128 | likely_benign | 0.2947 | benign | -0.985 | Destabilizing | None | N | 0.205 | neutral | None | None | None | None | N |
| A/L | 0.1732 | likely_benign | 0.1339 | benign | -0.311 | Destabilizing | 0.002 | N | 0.318 | neutral | None | None | None | None | N |
| A/M | 0.2647 | likely_benign | 0.2036 | benign | -0.349 | Destabilizing | 0.116 | N | 0.494 | neutral | None | None | None | None | N |
| A/N | 0.1953 | likely_benign | 0.1438 | benign | -0.668 | Destabilizing | None | N | 0.301 | neutral | None | None | None | None | N |
| A/P | 0.7234 | likely_pathogenic | 0.7033 | pathogenic | -0.355 | Destabilizing | 0.003 | N | 0.316 | neutral | N | 0.491294987 | None | None | N |
| A/Q | 0.1536 | likely_benign | 0.1426 | benign | -0.881 | Destabilizing | None | N | 0.238 | neutral | None | None | None | None | N |
| A/R | 0.3036 | likely_benign | 0.2913 | benign | -0.544 | Destabilizing | 0.001 | N | 0.317 | neutral | None | None | None | None | N |
| A/S | 0.0853 | likely_benign | 0.0719 | benign | -0.97 | Destabilizing | None | N | 0.184 | neutral | N | 0.414661001 | None | None | N |
| A/T | 0.0922 | likely_benign | 0.0791 | benign | -0.974 | Destabilizing | 0.001 | N | 0.243 | neutral | N | 0.472709227 | None | None | N |
| A/V | 0.1561 | likely_benign | 0.1302 | benign | -0.355 | Destabilizing | 0.001 | N | 0.288 | neutral | N | 0.507899236 | None | None | N |
| A/W | 0.6778 | likely_pathogenic | 0.5839 | pathogenic | -1.081 | Destabilizing | 0.316 | N | 0.531 | neutral | None | None | None | None | N |
| A/Y | 0.4089 | ambiguous | 0.3268 | benign | -0.716 | Destabilizing | 0.051 | N | 0.473 | 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.