Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35168 | 105727;105728;105729 | chr2:178531113;178531112;178531111 | chr2:179395840;179395839;179395838 |
| N2AB | 33527 | 100804;100805;100806 | chr2:178531113;178531112;178531111 | chr2:179395840;179395839;179395838 |
| N2A | 32600 | 98023;98024;98025 | chr2:178531113;178531112;178531111 | chr2:179395840;179395839;179395838 |
| N2B | 26103 | 78532;78533;78534 | chr2:178531113;178531112;178531111 | chr2:179395840;179395839;179395838 |
| Novex-1 | 26228 | 78907;78908;78909 | chr2:178531113;178531112;178531111 | chr2:179395840;179395839;179395838 |
| Novex-2 | 26295 | 79108;79109;79110 | chr2:178531113;178531112;178531111 | chr2:179395840;179395839;179395838 |
| 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/L | rs1382618116  |
None | 0.007 | N | 0.167 | 0.071 | 0.442363741745 | gnomAD-4.0.0 | 1.59087E-06 | None | None | None | None | N | None | 5.65227E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/M | rs1382618116 |
-0.528 | 0.371 | N | 0.268 | 0.14 | 0.512539161327 | gnomAD-2.1.1 | 8.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 6.54E-05 | None | 0 | 0 | 0 |
| V/M | rs1382618116 |
-0.528 | 0.371 | N | 0.268 | 0.14 | 0.512539161327 | gnomAD-4.0.0 | 3.18174E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.86541E-05 | 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 | 0.1178 | likely_benign | 0.1084 | benign | -0.477 | Destabilizing | None | N | 0.102 | neutral | N | 0.508275743 | None | None | N |
| V/C | 0.6481 | likely_pathogenic | 0.6394 | pathogenic | -0.633 | Destabilizing | 0.438 | N | 0.314 | neutral | None | None | None | None | N |
| V/D | 0.2133 | likely_benign | 0.1885 | benign | -0.008 | Destabilizing | 0.099 | N | 0.371 | neutral | None | None | None | None | N |
| V/E | 0.1477 | likely_benign | 0.1455 | benign | -0.106 | Destabilizing | 0.077 | N | 0.353 | neutral | N | 0.458577641 | None | None | N |
| V/F | 0.1191 | likely_benign | 0.1137 | benign | -0.598 | Destabilizing | 0.438 | N | 0.373 | neutral | None | None | None | None | N |
| V/G | 0.1278 | likely_benign | 0.1174 | benign | -0.628 | Destabilizing | None | N | 0.191 | neutral | N | 0.49047895 | None | None | N |
| V/H | 0.356 | ambiguous | 0.3363 | benign | -0.181 | Destabilizing | 0.704 | D | 0.349 | neutral | None | None | None | None | N |
| V/I | 0.0791 | likely_benign | 0.0804 | benign | -0.224 | Destabilizing | 0.001 | N | 0.153 | neutral | None | None | None | None | N |
| V/K | 0.1782 | likely_benign | 0.162 | benign | -0.4 | Destabilizing | 0.099 | N | 0.357 | neutral | None | None | None | None | N |
| V/L | 0.1242 | likely_benign | 0.1226 | benign | -0.224 | Destabilizing | 0.007 | N | 0.167 | neutral | N | 0.46829599 | None | None | N |
| V/M | 0.1118 | likely_benign | 0.1141 | benign | -0.336 | Destabilizing | 0.371 | N | 0.268 | neutral | N | 0.49047895 | None | None | N |
| V/N | 0.1633 | likely_benign | 0.1453 | benign | -0.16 | Destabilizing | 0.099 | N | 0.397 | neutral | None | None | None | None | N |
| V/P | 0.2116 | likely_benign | 0.192 | benign | -0.273 | Destabilizing | None | N | 0.194 | neutral | None | None | None | None | N |
| V/Q | 0.1749 | likely_benign | 0.1712 | benign | -0.366 | Destabilizing | 0.438 | N | 0.403 | neutral | None | None | None | None | N |
| V/R | 0.1698 | likely_benign | 0.1531 | benign | 0.061 | Stabilizing | 0.182 | N | 0.411 | neutral | None | None | None | None | N |
| V/S | 0.1295 | likely_benign | 0.1179 | benign | -0.579 | Destabilizing | 0.002 | N | 0.161 | neutral | None | None | None | None | N |
| V/T | 0.1357 | likely_benign | 0.1296 | benign | -0.572 | Destabilizing | 0.001 | N | 0.107 | neutral | None | None | None | None | N |
| V/W | 0.6389 | likely_pathogenic | 0.6311 | pathogenic | -0.686 | Destabilizing | 0.9 | D | 0.351 | neutral | None | None | None | None | N |
| V/Y | 0.3777 | ambiguous | 0.3562 | ambiguous | -0.382 | Destabilizing | 0.704 | D | 0.351 | 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.