Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2341 | 7246;7247;7248 | chr2:178774243;178774242;178774241 | chr2:179638970;179638969;179638968 |
| N2AB | 2341 | 7246;7247;7248 | chr2:178774243;178774242;178774241 | chr2:179638970;179638969;179638968 |
| N2A | 2341 | 7246;7247;7248 | chr2:178774243;178774242;178774241 | chr2:179638970;179638969;179638968 |
| N2B | 2295 | 7108;7109;7110 | chr2:178774243;178774242;178774241 | chr2:179638970;179638969;179638968 |
| Novex-1 | 2295 | 7108;7109;7110 | chr2:178774243;178774242;178774241 | chr2:179638970;179638969;179638968 |
| Novex-2 | 2295 | 7108;7109;7110 | chr2:178774243;178774242;178774241 | chr2:179638970;179638969;179638968 |
| Novex-3 | 2341 | 7246;7247;7248 | chr2:178774243;178774242;178774241 | chr2:179638970;179638969;179638968 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/N | rs781736462  |
0.239 | 0.979 | N | 0.517 | 0.179 | 0.203808441222 | gnomAD-2.1.1 | 1.59E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 1.76E-05 | 1.63292E-04 |
| D/N | rs781736462 |
0.239 | 0.979 | N | 0.517 | 0.179 | 0.203808441222 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 1.30959E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.78011E-04 |
| D/N | rs781736462 |
0.239 | 0.979 | N | 0.517 | 0.179 | 0.203808441222 | gnomAD-4.0.0 | 7.43525E-06 | None | None | None | None | N | None | 0 | 3.33422E-05 | None | 0 | 0 | None | 0 | 0 | 6.77978E-06 | 1.09789E-05 | 1.60036E-05 |
| D/V | None | None | 0.669 | N | 0.549 | 0.316 | 0.439445477881 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| D/Y | rs781736462 |
0.127 | 0.996 | N | 0.534 | 0.412 | 0.467839254973 | gnomAD-2.1.1 | 7.97E-06 | None | None | None | None | N | None | 0 | 5.79E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| D/Y | rs781736462 |
0.127 | 0.996 | N | 0.534 | 0.412 | 0.467839254973 | gnomAD-4.0.0 | 8.20911E-06 | None | None | None | None | N | None | 0 | 6.70961E-05 | None | 0 | 0 | None | 0 | 0 | 7.1945E-06 | 0 | 1.65579E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.1075 | likely_benign | 0.1001 | benign | 0.146 | Stabilizing | 0.012 | N | 0.322 | neutral | N | 0.448560027 | None | None | N |
| D/C | 0.4265 | ambiguous | 0.3993 | ambiguous | -0.201 | Destabilizing | 0.998 | D | 0.544 | neutral | None | None | None | None | N |
| D/E | 0.1398 | likely_benign | 0.1283 | benign | -0.34 | Destabilizing | 0.121 | N | 0.275 | neutral | N | 0.414562129 | None | None | N |
| D/F | 0.4937 | ambiguous | 0.4662 | ambiguous | 0.199 | Stabilizing | 0.991 | D | 0.535 | neutral | None | None | None | None | N |
| D/G | 0.0921 | likely_benign | 0.085 | benign | None | Stabilizing | 0.005 | N | 0.268 | neutral | N | 0.414859081 | None | None | N |
| D/H | 0.1803 | likely_benign | 0.1691 | benign | 0.837 | Stabilizing | 0.999 | D | 0.508 | neutral | N | 0.493867536 | None | None | N |
| D/I | 0.4122 | ambiguous | 0.3868 | ambiguous | 0.467 | Stabilizing | 0.949 | D | 0.544 | neutral | None | None | None | None | N |
| D/K | 0.2217 | likely_benign | 0.2081 | benign | 0.549 | Stabilizing | 0.842 | D | 0.544 | neutral | None | None | None | None | N |
| D/L | 0.3321 | likely_benign | 0.3161 | benign | 0.467 | Stabilizing | 0.949 | D | 0.54 | neutral | None | None | None | None | N |
| D/M | 0.5444 | ambiguous | 0.5205 | ambiguous | 0.139 | Stabilizing | 0.998 | D | 0.539 | neutral | None | None | None | None | N |
| D/N | 0.0772 | likely_benign | 0.074 | benign | 0.073 | Stabilizing | 0.979 | D | 0.517 | neutral | N | 0.444311126 | None | None | N |
| D/P | 0.7073 | likely_pathogenic | 0.6712 | pathogenic | 0.381 | Stabilizing | 0.974 | D | 0.519 | neutral | None | None | None | None | N |
| D/Q | 0.2162 | likely_benign | 0.1989 | benign | 0.124 | Stabilizing | 0.949 | D | 0.487 | neutral | None | None | None | None | N |
| D/R | 0.2394 | likely_benign | 0.225 | benign | 0.837 | Stabilizing | 0.949 | D | 0.546 | neutral | None | None | None | None | N |
| D/S | 0.0933 | likely_benign | 0.0892 | benign | 0.038 | Stabilizing | 0.525 | D | 0.424 | neutral | None | None | None | None | N |
| D/T | 0.2534 | likely_benign | 0.2387 | benign | 0.171 | Stabilizing | 0.842 | D | 0.552 | neutral | None | None | None | None | N |
| D/V | 0.2572 | likely_benign | 0.2394 | benign | 0.381 | Stabilizing | 0.669 | D | 0.549 | neutral | N | 0.449639523 | None | None | N |
| D/W | 0.803 | likely_pathogenic | 0.7863 | pathogenic | 0.261 | Stabilizing | 0.998 | D | 0.613 | neutral | None | None | None | None | N |
| D/Y | 0.1893 | likely_benign | 0.1787 | benign | 0.441 | Stabilizing | 0.996 | D | 0.534 | neutral | N | 0.493650739 | 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.