Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17719 | 53380;53381;53382 | chr2:178607533;178607532;178607531 | chr2:179472260;179472259;179472258 |
| N2AB | 16078 | 48457;48458;48459 | chr2:178607533;178607532;178607531 | chr2:179472260;179472259;179472258 |
| N2A | 15151 | 45676;45677;45678 | chr2:178607533;178607532;178607531 | chr2:179472260;179472259;179472258 |
| N2B | 8654 | 26185;26186;26187 | chr2:178607533;178607532;178607531 | chr2:179472260;179472259;179472258 |
| Novex-1 | 8779 | 26560;26561;26562 | chr2:178607533;178607532;178607531 | chr2:179472260;179472259;179472258 |
| Novex-2 | 8846 | 26761;26762;26763 | chr2:178607533;178607532;178607531 | chr2:179472260;179472259;179472258 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs564121832  |
-1.473 | 0.027 | N | 0.288 | 0.079 | 0.543031892603 | gnomAD-2.1.1 | 1.28815E-04 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 9.15092E-04 | None | 0 | 3.56E-05 | 0 |
| V/A | rs564121832 |
-1.473 | 0.027 | N | 0.288 | 0.079 | 0.543031892603 | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 1.0352E-03 | 0 |
| V/A | rs564121832 |
-1.473 | 0.027 | N | 0.288 | 0.079 | 0.543031892603 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| V/A | rs564121832 |
-1.473 | 0.027 | N | 0.288 | 0.079 | 0.543031892603 | gnomAD-4.0.0 | 7.43864E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 3.3036E-04 | 2.71335E-05 | 8.78503E-04 | 9.60922E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.1505 | likely_benign | 0.1459 | benign | -0.94 | Destabilizing | 0.027 | N | 0.288 | neutral | N | 0.481686574 | None | None | N |
| V/C | 0.6289 | likely_pathogenic | 0.6214 | pathogenic | -0.808 | Destabilizing | 0.935 | D | 0.401 | neutral | None | None | None | None | N |
| V/D | 0.2041 | likely_benign | 0.22 | benign | -0.612 | Destabilizing | 0.081 | N | 0.431 | neutral | None | None | None | None | N |
| V/E | 0.1342 | likely_benign | 0.1625 | benign | -0.635 | Destabilizing | None | N | 0.221 | neutral | N | 0.427833447 | None | None | N |
| V/F | 0.151 | likely_benign | 0.1523 | benign | -0.704 | Destabilizing | 0.38 | N | 0.398 | neutral | None | None | None | None | N |
| V/G | 0.2082 | likely_benign | 0.2295 | benign | -1.206 | Destabilizing | 0.117 | N | 0.453 | neutral | N | 0.505622227 | None | None | N |
| V/H | 0.3624 | ambiguous | 0.3705 | ambiguous | -0.685 | Destabilizing | 0.555 | D | 0.467 | neutral | None | None | None | None | N |
| V/I | 0.077 | likely_benign | 0.0727 | benign | -0.341 | Destabilizing | None | N | 0.199 | neutral | N | 0.446805997 | None | None | N |
| V/K | 0.1919 | likely_benign | 0.2277 | benign | -0.904 | Destabilizing | 0.081 | N | 0.395 | neutral | None | None | None | None | N |
| V/L | 0.1455 | likely_benign | 0.1409 | benign | -0.341 | Destabilizing | 0.009 | N | 0.322 | neutral | N | 0.484188162 | None | None | N |
| V/M | 0.1196 | likely_benign | 0.1154 | benign | -0.405 | Destabilizing | 0.38 | N | 0.392 | neutral | None | None | None | None | N |
| V/N | 0.1689 | likely_benign | 0.1749 | benign | -0.743 | Destabilizing | 0.38 | N | 0.457 | neutral | None | None | None | None | N |
| V/P | 0.8674 | likely_pathogenic | 0.89 | pathogenic | -0.504 | Destabilizing | 0.555 | D | 0.437 | neutral | None | None | None | None | N |
| V/Q | 0.1677 | likely_benign | 0.1959 | benign | -0.879 | Destabilizing | 0.007 | N | 0.284 | neutral | None | None | None | None | N |
| V/R | 0.2064 | likely_benign | 0.2334 | benign | -0.42 | Destabilizing | 0.235 | N | 0.459 | neutral | None | None | None | None | N |
| V/S | 0.1528 | likely_benign | 0.1505 | benign | -1.215 | Destabilizing | 0.081 | N | 0.407 | neutral | None | None | None | None | N |
| V/T | 0.1267 | likely_benign | 0.1216 | benign | -1.124 | Destabilizing | 0.149 | N | 0.261 | neutral | None | None | None | None | N |
| V/W | 0.7516 | likely_pathogenic | 0.736 | pathogenic | -0.872 | Destabilizing | 0.935 | D | 0.521 | neutral | None | None | None | None | N |
| V/Y | 0.4376 | ambiguous | 0.4319 | ambiguous | -0.571 | Destabilizing | 0.555 | D | 0.397 | 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.