Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16091 | 48496;48497;48498 | chr2:178616520;178616519;178616518 | chr2:179481247;179481246;179481245 |
| N2AB | 14450 | 43573;43574;43575 | chr2:178616520;178616519;178616518 | chr2:179481247;179481246;179481245 |
| N2A | 13523 | 40792;40793;40794 | chr2:178616520;178616519;178616518 | chr2:179481247;179481246;179481245 |
| N2B | 7026 | 21301;21302;21303 | chr2:178616520;178616519;178616518 | chr2:179481247;179481246;179481245 |
| Novex-1 | 7151 | 21676;21677;21678 | chr2:178616520;178616519;178616518 | chr2:179481247;179481246;179481245 |
| Novex-2 | 7218 | 21877;21878;21879 | chr2:178616520;178616519;178616518 | chr2:179481247;179481246;179481245 |
| 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/I | rs369143612  |
-0.712 | 0.064 | N | 0.382 | 0.097 | None | gnomAD-2.1.1 | 3.94E-05 | None | None | None | None | N | None | 2.48488E-04 | 2.83E-05 | None | 0 | 0 | None | 9.81E-05 | None | 0 | 0 | 1.40805E-04 |
| V/I | rs369143612 |
-0.712 | 0.064 | N | 0.382 | 0.097 | None | gnomAD-3.1.2 | 5.93E-05 | None | None | None | None | N | None | 1.69115E-04 | 6.57E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07469E-04 | 0 |
| V/I | rs369143612 |
-0.712 | 0.064 | N | 0.382 | 0.097 | None | gnomAD-4.0.0 | 1.05436E-05 | None | None | None | None | N | None | 1.06826E-04 | 5.00701E-05 | None | 0 | 0 | None | 0 | 0 | 1.6965E-06 | 4.39464E-05 | 0 |
| V/L | rs369143612 |
None | None | N | 0.157 | 0.126 | 0.0806252709748 | gnomAD-3.1.2 | 6.59E-06 | None | None | None | None | N | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/L | rs369143612 |
None | None | N | 0.157 | 0.126 | 0.0806252709748 | gnomAD-4.0.0 | 6.58692E-06 | None | None | None | None | N | None | 2.41593E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 | 0.1854 | likely_benign | 0.2109 | benign | -2.32 | Highly Destabilizing | 0.01 | N | 0.297 | neutral | N | 0.47618372 | None | None | N |
| V/C | 0.547 | ambiguous | 0.5974 | pathogenic | -2.035 | Highly Destabilizing | 0.628 | D | 0.578 | neutral | None | None | None | None | N |
| V/D | 0.393 | ambiguous | 0.4431 | ambiguous | -3.228 | Highly Destabilizing | 0.029 | N | 0.573 | neutral | N | 0.497376595 | None | None | N |
| V/E | 0.2567 | likely_benign | 0.2852 | benign | -3.081 | Highly Destabilizing | 0.016 | N | 0.531 | neutral | None | None | None | None | N |
| V/F | 0.1934 | likely_benign | 0.1978 | benign | -1.344 | Destabilizing | 0.208 | N | 0.583 | neutral | N | 0.481079485 | None | None | N |
| V/G | 0.3312 | likely_benign | 0.3632 | ambiguous | -2.758 | Highly Destabilizing | None | N | 0.56 | neutral | N | 0.509206661 | None | None | N |
| V/H | 0.4962 | ambiguous | 0.5188 | ambiguous | -2.256 | Highly Destabilizing | 0.356 | N | 0.599 | neutral | None | None | None | None | N |
| V/I | 0.0726 | likely_benign | 0.0776 | benign | -1.111 | Destabilizing | 0.064 | N | 0.382 | neutral | N | 0.400537948 | None | None | N |
| V/K | 0.4381 | ambiguous | 0.4405 | ambiguous | -1.982 | Destabilizing | 0.016 | N | 0.517 | neutral | None | None | None | None | N |
| V/L | 0.1414 | likely_benign | 0.1338 | benign | -1.111 | Destabilizing | None | N | 0.157 | neutral | N | 0.458354485 | None | None | N |
| V/M | 0.1232 | likely_benign | 0.1287 | benign | -1.247 | Destabilizing | 0.12 | N | 0.538 | neutral | None | None | None | None | N |
| V/N | 0.3042 | likely_benign | 0.3674 | ambiguous | -2.206 | Highly Destabilizing | None | N | 0.542 | neutral | None | None | None | None | N |
| V/P | 0.9725 | likely_pathogenic | 0.9732 | pathogenic | -1.49 | Destabilizing | 0.325 | N | 0.597 | neutral | None | None | None | None | N |
| V/Q | 0.2944 | likely_benign | 0.3251 | benign | -2.184 | Highly Destabilizing | 0.001 | N | 0.446 | neutral | None | None | None | None | N |
| V/R | 0.3416 | ambiguous | 0.3534 | ambiguous | -1.583 | Destabilizing | 0.072 | N | 0.593 | neutral | None | None | None | None | N |
| V/S | 0.2006 | likely_benign | 0.2447 | benign | -2.715 | Highly Destabilizing | 0.016 | N | 0.537 | neutral | None | None | None | None | N |
| V/T | 0.1419 | likely_benign | 0.17 | benign | -2.459 | Highly Destabilizing | 0.031 | N | 0.364 | neutral | None | None | None | None | N |
| V/W | 0.7433 | likely_pathogenic | 0.7363 | pathogenic | -1.777 | Destabilizing | 0.864 | D | 0.623 | neutral | None | None | None | None | N |
| V/Y | 0.4999 | ambiguous | 0.5289 | ambiguous | -1.532 | Destabilizing | 0.356 | N | 0.587 | 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.